Research Explorer

Your browser does not support JavaScript or JavaScript is not enabled. Without JavaScript some functions of this webapplication may be disabled or cause error messages. To enable JavaScript, please consult the manual of your browser or contact your system administrator.

Researcher

Martine Cools

Publications & Research Data

Awards & Distinctions

201 Results

2026

Contemporary global management of 21-hydroxylase deficiency congenital adrenal hyperplasia in early infancy : a multi-national registry study

David B N LimJillian BryceSalma R AliXanthippi TseretopoulouNiels H BirkebaekSabine E HannemaAriadna Campos-MartorellMaria ClementeUta NeumannChrista E Flück et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Effects of gender-affirming hormone therapy from adolescence to adulthood on bone mineral density, body composition and muscle strength

Silvia CianciaJeroen VervalckeDaniel KlinkGuy T'SjoenMartine Cools

A1 Journal Article in ECLINICALMEDICINE

ENDO-ERN expert opinion : addressing the endocrine needs in considering genital surgery in disorders/differences in sex development individuals in Europe

Hedi L Claahsen-van der GrintenClaus H GravholtEmily K WhiteManuela BrösamleLexi BreenArlene SmythLuca PersaniOlaf HiortAngelica Lindén HirschbergAnna Gradone et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

European Society for Paediatric Endocrinology (ESPE) and European Society of Endocrinology (ESE) joint clinical practice guidance for healthcare transition from paediatric to adult endocrine care

Enora Le RouxKirstine StochholmMartin FassnachtImelda CoynePhilippe TouraineKrystallenia AlexandrakiMalgorzata WasniewskaJudith P. Van EckVictoria Di GuistoAmanda Helm et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

European Society for Paediatric Endocrinology and European Society of Endocrinology joint clinical practice guidance for healthcare transition from paediatric to adult endocrine care

Enora Le RouxKirstine StochholmMartin FassnachtImelda CoynePhilippe TouraineKrystallenia I. AlexandrakiMalgorzata WasniewskaJudith P. van EckVictoria Di GuistoAmanda Helm et al.

A1 Journal Article in HORMONE RESEARCH IN PAEDIATRICS

Gonadal function and its evolution in 46,XX testicular/ovotesticular DSD

Margherita SepichSilvano BertelloniNina TyutyushevaAngela Lucas-HeraldInas MazenMartine CoolsRuben Van PaemelŞükran PoyrazoğluOlaf HiortUlla Döhnert et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Long-term effects of gender-affirming hormone therapy from adolescence to adulthood on voice

Silvia CianciaClara LeynsDaniel KlinkJeroen VervalckeGuy T'SjoenMartine CoolsEvelien D'haeseleer

A1 Journal Article in JOURNAL OF VOICE

The role of testicular ultrasonography as a screening tool for testicular dysfunction in hypospadias

Maaike KroonAnne-Françoise SpinoitPiet HoebekeAlexander SpringerUrsula TonnhoferStefan RiedlManuela HiessAhmed MahmoudErik Van LaeckeMartine Cools et al.

A1 Journal Article in BJU INTERNATIONAL

2025

A laser capture microdissection-based method for high-sensitivity transcriptomics from archived FFPE tissue slides with single-cell resolution using LCM-FFPEseq

Elise CallensHannes SyrynKoen DeserrannoGuillaume CattebekeHenri CouckuytJulie Van De VeldeDanique BerrevoetAaron VerplanckeDieter DeforceWard De Spiegelaere et al.

Approach to the patient with a difference of sexual development

Hannes SyrynElfride De BaereMartine Cools

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Blood pressure and its associations in 554 children and young people with congenital adrenal hyperplasia

Neil R LawrenceIrina BacilaJoseph TongeJeremy DawsonGary S CollinsZi-Qiang LangJillian BryceMalika AlimussinaMinglu ChenSalma Rashid Ali et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Effects of puberty suppression on bone, body composition, handgrip strength and glucolipid profile in early-pubertal transgender adolescents

Silvia CianciaVanessa DuboisMargarita CraenDaniel KlinkCharlotte VerrokenDirk VanderschuerenMartine Cools

A1 Journal Article in INTERNATIONAL JOURNAL OF TRANSGENDER HEALTH

EndoCompass project : endocrinology across the lifespan

Evelien F GeversMartine CoolsAnita C Hokken-KoelegaYulia MatskevichAart Jan van der LelyMathis GrossmannGudmundur Johannsson

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

EndoCompass project : research roadmap for reproductive and developmental endocrinology

Martine CoolsCsilla KrauszAnders JuulDjuro MacutMarianne Skovsager AndersenAnna-Maria AnderssonCynthia L AndoniadouS Faisal AhmedJulie BakkerAnu Bashamboo et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

EndoCompass Project : research roadmap for reproductive and developmental endocrinology

Martine CoolsCsilla KrauszAnders JuulDjuro MacutMarianne Skovsager AndersenAnna-Maria AnderssonCynthia L. AndoniadouS. Faisal AhmedJulie BakkerAnu Bashamboo et al.

A1 Journal Article in HORMONE RESEARCH IN PAEDIATRICS

Endocrine management of transgender and gender diverse adolescents : expert opinion of the ESPE Working Group on Gender Incongruence and the Endo-ERN main thematic group on Sexual Development and Maturation

Sabine E. HannemaKanetee BusiahGary ButlerHedi L. Claahsen-van de GrintenMartine CoolsAneta M. Gawlik-StarzykDaniel KlinkKatharina M. MainLaetitia MartinerieAnnette Richter-Unruh et al.

A1 Journal Article in HORMONE RESEARCH IN PAEDIATRICS

Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency

LS BoogersHT BruggenwirthKP WolffenbuttelR HersmusJ BryceSF AhmedAK Lucas-HeraldF BaronioMartine CoolsM Ellaithi et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Gynecomastia and its management in boys with partial androgen insensitivity syndrome

Supitcha PatjamontriAngela K Lucas-HeraldJillian BryceErica van den AkkerMartine CoolsEvgenia GlobaGil Guerra-JuniorOlaf HiortPaul HofmanPaul-Martin Holterhus et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

How accurate is Tanner’s formula in estimating target height?

Silvia CianciaPaula Ribes CajasMartine Cools

A1 Journal Article in BMC PEDIATRICS

Multi-stakeholder opinion statement on the care of individuals born with differences of sex development : common ground and opportunities for improvement

Martine CoolsEarl Y. ChengJoanne HallJulie AldersonAnne-Marie Amies OelschlagerAdam H. BalenYee-Ming ChanMitchell E. GeffnerClaus H. GravholtTülay Güran et al.

A1 Journal Article in HORMONE RESEARCH IN PAEDIATRICS

Navigating endocrine care in transgender adolescents : the challenge of sexual dimorphism

Silvia CianciaMartine CoolsDaniel Klink

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants : findings from the international SF1next study

Chrysanthi KouriIdoia Martinez de LapiscinaRawda Naamneh-ElzenatyGrit SommerKay-Sara SauterChrista E. FlückSaygin AbaliZehra Yavas AbaliS. Faisal AhmedLeyla Akin et al.

A1 Journal Article in EBIOMEDICINE

Phenotypic variation and pubertal outcomes in males and females with 46,XY partial gonadal dysgenesis

Rieko Tadokoro-CuccaroIeuan A HughesMartine CoolsKoen Van de VijverBerenice Bilharinho de MendonçaSorahia DomeniceRafael Loch BatistaRenata Thomazini DallagoElaine F CostaNathalia Lisboa Gomes et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Role of the pediatrician in the initial management of a newborn with differences of sex development or hypospadias

Saskia van der StraatenHannes SyrynArianne DessensMartine CoolsLloyd Tack

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

The attitudes of transgender and gender-diverse adolescents and their parents regarding fertility, parenthood, and fertility preservation before the start of puberty suppression or gender-affirming hormone therapy

Tessa H. R. StolkNorah M. van MelloLidewij S. BoogersAndreas MeissnerJudith A. F. HuirneAlessandra D. FisherSilvia CianciaDaniel KlinkMartine CoolsSabine E. Hannema et al.

A1 Journal Article in JOURNAL OF SEXUAL MEDICINE

The gender incongruence module in the European Registries for Rare Endocrine & Bone Conditions (EuRREB) : first results, current insights, and future directions

Silvia CianciaMariya CherenkoDaniel KlinkKanetee BusiahAneta Gawlik-StarzykWiktoria KempinskaHedi L Claahsen-van der GrintenS Faisal AhmedSabine E HannemaMartine Cools

A1 Journal Article in ENDOCRINE CONNECTIONS

2024

A European Network for the Investigation of Gender Incongruence in adolescents

Lidewij S BoogersChantal M WiepjesAnnemieke S StaphorsiusDaniel T KlinkSilvia CianciaAlessia RomaniTessa H R StolkEmmy van den BoogaardThomas D SteensmaAnnelou L C de Vries et al.

A1 Journal Article in JOURNAL OF SEXUAL MEDICINE

Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis

Hannes SyrynJulie Van De VeldeGriet De ClercqHannah VerdinAnnelies DheedeneFrank PeelmanAndrew SinclairKatie L AyersRoss A D BathgateMartine Cools et al.

A1 Journal Article in HUMAN REPRODUCTION

Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development : the SF1next study

Rawda Naamneh ElzenatyIdoia Martinez de LapiscinaChrysanthi KouriKay-Sara SauterGrit SommerLuis CastañoChrista E FlückMartine Cools[missing] SF1next Study Grp

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Chrysanthi KouriGrit SommerIdoia Martinez de LapiscinaRawda Naamneh ElzenatyLloyd TackMartine CoolsS. Faisal AhmedChrista E. FlückSaygin AbaliZehra Yavas Abali et al.

A1 Journal Article in EBIOMEDICINE

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cécile BrachetAlexander LaemmleMartine CoolsKay-Sara SauterElfride De BaereArnaud VanlanderAmit V PandeyTherina du ToitClarissa D VoegelClaudine Heinrichs et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cecile BrachetAlexander LaemmleMartine CoolsKay-Sara SauterElfride De BaereArnaud VanlanderAmit V. PandeyTherina Du ToitClarissa D. VoegelClaudine Heinrichs et al.

Policy for transitioning childhood-onset growth hormone deficiency from pediatric to adult endocrine care in Belgium

Willem StaelsJean De SchepperMarianne BeckerPhilippe LysyDaniel KlinkKarl LoggheMarieken den BrinkerAnne RochtusBruno LapauwMartine Cools et al.

A1 Journal Article in FRONTIERS IN ENDOCRINOLOGY

Temporal trends in acute adrenal insufficiency events in children with congenital adrenal hyperplasia during 2019-2022

Xanthippi TseretopoulouSalma R AliJillian BryceNadia AminNavoda AtapattuTania A S S BachegaFederico BaronioRita OrtolanoNiels H BirkebaekWalter Bonfig et al.

A2 Journal Article in JOURNAL OF THE ENDOCRINE SOCIETY

Working towards convergence of the clinical management of differences of sex development/intersex conditions and the human rights framework : a case study

Martine CoolsEmmanuelle VerhagenPiet HoebekeEline Van HoeckePieter Cannoot

A1 Journal Article in CLINICAL ENDOCRINOLOGY

2023

Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development

Hannes SyrynHannah VerdinJulie Van De VeldeMarianne BeckerCécile BrachetMarieke Den BrinkerSylvia DepoorterJulie FudvoyeDaniel KlinkPhilippe Lysy et al.

Early puberty suppression and gender-affirming hormones do not alter final height in transgender adolescents

Silvia CianciaDaniel KlinkMargarita CraenMartine Cools

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Efficacy and safety of a 4-year combination therapy of growth hormone and gonadotropin-releasing hormone analogue in pubertal girls with short predicted adult height

Hilde DotremontAnnick FranceClaudine HeinrichsSylvie TenoutasseCécile BrachetMartine CoolsKathleen De WaeleGuy MassaMarie-Christine LebrethonInge Gies et al.

A1 Journal Article in FRONTIERS IN ENDOCRINOLOGY

Electronic reporting of rare endocrine conditions within a clinical network : results from the EuRRECa project

S R AliJ BryceA L Priego-ZuritaM CherenkoC SmytheT M de RooijMartine CoolsT DanneH KatugampolaO M Dekkers et al.

A1 Journal Article in ENDOCRINE CONNECTIONS

Etiology, histology and long-term outcome of bilateral testicular regression : a large Belgian series

Lloyd TackCecile BrachetVeronique BeauloyeClaudine HeinrichsE BorosKathleen De WaeleSaskia van der StraatenSara Van AkenAnnelies LemayAnne Rochtus et al.

A1 Journal Article in HUMAN REPRODUCTION OPEN

Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia : a retrospective multicenter cohort study

Mariska A M SchröderMihaela NeacşuBas P H AdriaansenFred C G J SweepS Faisal AhmedSalma R AliTânia A S S BachegaFederico BaronioNiels Holtum BirkebækChristiaan de Bruin et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Individuals with numerical and structural variations of sex chromosomes : interdisciplinary management with focus on fertility potential

Anders JuulClaus H. GravholtMichel De VosEkaterina KoledovaMartine Cools

A1 Journal Article in FRONTIERS IN ENDOCRINOLOGY

Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia

Beatrice RighiSalma R. AliJillian BryceJeremy W. TomlinsonWalter BonfigFederico BaronioEduardo C. CostaGuilherme Guaragna-FilhoGuy T'SjoenMartine Cools et al.

A1 Journal Article in ENDOCRINE

Outcome of COVID-19 infections in patients with adrenal insufficiency and excess

Hanna F. NowotnyJillian BryceSalma R. AliRoberta GiordanoFederico BaronioIrina ChifuLea TschaidseMartine CoolsErica L. T. van den AkkerHenrik Falhammar et al.

A1 Journal Article in ENDOCRINE CONNECTIONS

Ovotesticular difference of sex development : genetic background, histological features and clinical management

Hannes SyrynKoen Van de VijverMartine Cools

A1 Journal Article in HORMONE RESEARCH IN PAEDIATRICS

Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia

Trine Holm JohannsenJakob AlbrethsenVassos NeocleousFederico BaronioMartine CoolsLise AksglaedeNiels JørgensenPeter ChristiansenMeropi ToumbaPavlos Fanis et al.

A1 Journal Article in ENDOCRINE CONNECTIONS

RXFP2 : validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Hannes SyrynHannah VerdinJulie Van De VeldeFrank PeelmanMarianne BeckerCecile BrachetMarieke den BrinkerSylvia DepoorterJulie FudvoyeDaniel Klink et al.

Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study

Martine CoolsCelien GrijpJana NeirinckSimon TavernierPetra SchelstraeteJulie Van De VeldeLieve MorbéeElfride De BaereCarolien BonroyYolande van Bever et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Testosterone restores body composition, bone mass, and bone strength following early puberty suppression in a mouse model mimicking the clinical strategy in trans boys

Vanessa DuboisSilvia CianciaStefanie DomsSarah El KharrazVera SommersNa Ri KimKarel DavidJolien Van DijckRoger Valle TenneyChrista Maes et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

2022

Effects of long-term puberty suppression and gender-affirming hormones on body composition and metabolic profile in a preclinical mouse model and a cohort of transboys

Vanessa DuboisSilvia CianciaFrank ClaessensMargarita CraenSara El KharrazNari KimDaniel KlinkVera SommersDirk VanderschuerenMartine Cools

Endocrine outcome and seminal parameters in young adult men born with hypospadias : a cross-sectional cohort study

Lloyd TackAnne-Françoise SpinoitPiet HoebekeStefan RiedlAlexander SpringerUrsula TonnhoferManuela HiessJulia WeningerAhmed MahmoudKelly Tilleman et al.

A1 Journal Article in EBIOMEDICINE

Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

Lloyd TackSaskia van der StraatenStefan RiedlAlexander SpringerPaul‐Martin HolterhusNadine C. HornigZofia KolesinskaMarek NiedzielaFederico BaronioAntonio Balsamo et al.

A1 Journal Article in CLINICAL ENDOCRINOLOGY

Impact of gender affirming treatment on bone health in transgender and gender diverse youth

Silvia CianciaVanessa DuboisMartine Cools

A1 Journal Article in ENDOCRINE CONNECTIONS

Long-term GnRHa use and bone health in transgender adolescents : can a mouse model inform clinical practice?

Silvia CianciaVanessa DuboisFrank ClaessensMargarita CraenStefanie DomsSara El KharrazNari KimDaniel KlinkDirk VanderschuerenMartine Cools

Long-term outcomes of hypospadias : urological and psychosexual function and endocrine-reproductive capacity

Lloyd TackMartine CoolsAnne-Françoise SpinoitHannah Verdin

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Hanna NowotnyUta NeumannVéronique Tardy-GuidolletS Faisal AhmedFederico BaronioTadej BattelinoJérôme BertheratOliver BlankensteinMarco BonomiClaire Bouvattier et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres

Luca PersaniMartine CoolsStamatina IoakimS. Faisal AhmedSilvia AndonovaMagdalena Avbelj-StefanijaFederico BaronioJerome BouligandHennie T. BruggenwirthJustin H. Davies et al.

A1 Journal Article in ENDOCRINE CONNECTIONS

Treatment of congenital adrenal hyperplasia in children aged 0-3 years : a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure

Uta NeumannAnnelieke van der LindeRuth E KroneNils P KroneAyla GüvenTülay GüranHeba ElsedfySukran PoyrazogluFeyza DarendelilerTania A Bachega et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

2021

Adolescent and young adult urogenital outcome following childhood hypospadias repair : perfection revisited

Lloyd TackAlexander SpringerStefan RiedlUrsula TonnhoferManuela HiessJulia WeningerAhmed MahmoudErik Van LaeckePiet HoebekeMartine Cools et al.

A1 Journal Article in JOURNAL OF UROLOGY

Approach to the virilizing girl at puberty

Maristella SantiStefanie GrafMazen ZeinoMartine CoolsKoen Van de VijverMafalda TrippelNijas AliuChrista E. Flück

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Assessing the health-related management of people with differences of sex development

Martina JürgensenMarion RappUlla DöhnertFabian-Simon FrielitzFaisal AhmedMartine CoolsUte ThyenOlaf Hiort

A1 Journal Article in ENDOCRINE

ENDO-ERN expert opinion on the differential diagnosis of pubertal delay

Luca PersaniMarco BonomiMartine CoolsMehul DattaniLeo DunkelClaus H. GravholtAnders Juul

A1 Journal Article in ENDOCRINE

Fertility and sexuality issues in congenital lifelong urology patients : male aspects

Anne-Françoise SpinoitMieke WaterschootCéline SinattiTariq AbbasNina CallensMartine CoolsRizwan HamidMoneer K. HannaPankaj JoshiRosalia Misseri et al.

A1 Journal Article in WORLD JOURNAL OF UROLOGY

Gonadectomy in conditions affecting sex development : a registry-based cohort study

Angela K Lucas-HeraldJillian BryceAndreas KyriakouMarie Lindhardt LjubicicWiebke ArltLaura AudiAntonio BalsamoFederico BaronioSilvano BertelloniMarkus Bettendorf et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Hervorming van de geslachtsregistratie : suggesties UGent en UZ Gent

Guy T'SjoenMartine CoolsJoz MotmansGerd VerscheldenPieter Cannoot

A2 Journal Article in TIJDSCHRIFT VOOR FAMILIERECHT

Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

Celien GrijpSimon TavernierJana NeirinckMaha Abdullhadi-AtwanJulie Van De VeldeDorien BaetensHannah VerdinLieve MorbéeElfride De BaereDavid Zangen et al.

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : data from the I-CAH registry

Irina BacilaNicole FreemanEleni DanielMarija SandrkJillian BryceSalma Rashid AliZehra Yavas AbalıNavoda AtapattuTania A BachegaAntonio Balsamo et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia

Beatrice RighiSalma R. AliJillian BryceJeremy W. TomlinsonWalter BonfigFederico BaronioEduardo C. CostaGuilherme Guaragna FilhoGuy T'SjoenMartine Cools et al.

Multidisciplinary approach to the child with sex chromosomal mosaicism including a Y-containing cell line

Bauke DeboMarlies Van LoockeKatya De GrooteEls De LeenheerMartine Cools

A1 Journal Article in INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH

Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research

J. de GraafF. de VriesA. DirksonO. HiortA.M. PereiraM. KorbonitsMartine Cools[missing] Res Sci Work Package Endo-ERN

A1 Journal Article in ENDOCRINE

Testosterone therapy and its monitoring in adolescent boys with hypogonadism : results of an international survey from the I-DSD Registry

Marianna R. StancampianoAngela K. Lucas-HeraldJillian BryceGianni RussoGraziano BareraAntonio BalsamoFederico BaronioSilvano BertelloniMargherita ValianiMartine Cools et al.

A1 Journal Article in SEXUAL DEVELOPMENT

2020

Androgen receptor expression in preputial dartos tissue correlates with physiological androgen exposure in congenital malformations of the penis and in controls

Lloyd TackMarleen PraetJo Van DorpeBernhard HaidSarah BuelensPiet HoebekeErik Van LaeckeMartine CoolsAnne-Françoise Spinoit

A1 Journal Article in JOURNAL OF PEDIATRIC UROLOGY

Clinical findings and follow-up of 46,XY and 45,X/46,XY testicular dysgenesis

Juliana G.R. AndradeHelena Fabbri-ScalletAna P. dos SantosMartine CoolsRalf WernerOlaf HiortMaricilda P. de MelloGil Guerra-JúniorAndrea T. Maciel-Guerra

A1 Journal Article in SEXUAL DEVELOPMENT

Families with pediatric type 1 diabetes : a comparison with the general population on child well-being, parental distress, and parenting behavior

Cynthia Van GampelaereKoen LuyckxSaskia van der StraatenJolien LaridaenEveline R. GoethalsKristina CasteelsJesse VanbesienMarieke den BrinkerSylvia DepoorterDaniel Klink et al.

A1 Journal Article in PEDIATRIC DIABETES

Novel model to study the physiological effects of temporary or prolonged sex steroid deficiency in male mice

Na Ri KimRougin KhalilKarel DavidLeen AntonioDieter SchollaertLudo DeboelErik Van HerckNele WardenierMartine CoolsBrigitte Decallonne et al.

A1 Journal Article in AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Parental stress, anxiety and trait mindfulness : associations with parent–child mealtime interactions in children with type 1 diabetes

Cynthia Van GampelaereKoen LuyckxEveline R. GoethalsSaskia van der StraatenJolien LaridaenKristina CasteelsJesse VanbesienSylvia DepoorterDaniel KlinkMartine Cools et al.

A1 Journal Article in JOURNAL OF BEHAVIORAL MEDICINE

Psychosexual outcome, sexual function, and long-term satisfaction of adolescent and young adult men after childhood hypospadias repair

Lloyd TackAlexander SpringerStefan RiedlUrsula TonnhoferJulia WeningerManuela HiessErik Van LaeckePiet HoebekeAnne-Françoise SpinoitMartine Cools et al.

A1 Journal Article in JOURNAL OF SEXUAL MEDICINE

Rare and special robotic surgery indications in the pediatric population : ectopic organs and differences of sexual development

Kristel FerongMieke WaterschootCéline SinattiErik Van LaeckeMartine CoolsPiet HoebekeAnne-Françoise Spinoit

A1 Journal Article in WORLD JOURNAL OF UROLOGY

Real-world estimates of adrenal insufficiency–related adverse events in children with congenital adrenal hyperplasia

Salma R AliJillian BryceHoura HaghpanahanJames D LewseyLi En TanNavoda AtapattuNiels H BirkebaekOliver BlankensteinUta NeumannAntonio Balsamo et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The EuRRECa project as a model for data access and governance policies for rare disease registries that collect clinical outcomes

Salma R. AliJillian BryceLi En TanOlaf HiortAlberto M. PereiraErica L. T. van den AkkerNatasha M. Appelman-DijkstraJerome BertheratMartine CoolsOlaf M. Dekkers et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH

The External Genitalia Score (EGS) : a European multicenter validation study

Saskia van der StraatenAlexander SpringerAleksandra ZecicDoris HebenstreitUrsula TonnhoferAneta GawlikMalgorzata BaumertKamila SzeligaSara DebulpaepAn Desloovere et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

Yolande van BeverHennie T BrüggenwirthKatja P WolffenbuttelArianne B DessensIrene A L GroenenbergMaarten F C M KnapenElfride De BaereMartine CoolsConny M A van Ravenswaaij-ArtsBirgit Sikkema-Raddatz et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2019

45,X/46,XY gonadal dysgenesis, 46,XX/46,XY chimerism (and variants), and 46,XX testicular and ovotesticular DSD

Bookchapter in Encyclopedia of endocrine diseases, Volume 5

Addressing gaps in care of people with conditions affecting sex development and maturation

Olaf HiortMartine CoolsAlexander SpringerKen McElreaveyAndy GreenfieldStefan A. WudyAlexandra KulleS. Faisal AhmedArianne DessensAntonio Balsamo et al.

A1 Journal Article in NATURE REVIEWS ENDOCRINOLOGY

Atypie du développement génital et risque tumoral : synthèse de la réunion scientifique du 25 mai 2018 organisée par le ' Centre de référence des maladies rares du développement génital du fœtus à l’adulte '

Cécile Faure ConterDaniela Brindusa GorduzaPierre-Yves MureJean-Pierre PracrosPierre MouriquandClaire BouvattierJean-Pierre SiffroiIngrid PlottonClaire-Lise GayMartine Cools et al.

A1 Journal Article in BULLETIN DU CANCER

Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

Marie Lindhardt LjubicicAnne JørgensenCarlo AceriniJuliana AndradeAntonio BalsamoSilvano BertelloniMartine CoolsRieko Tadokoro CuccaroFeyza DarendelilerChrista E Flück et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

De 'differences of sex development' in een notendop

Mieke WaterschootL. De WeirdtErik Van LaeckePiet HoebekeMartine CoolsAnne-Françoise Spinoit

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Mindfulness, worries, and parenting in parents of children with type 1 diabetes

Cynthia Van GampelaereKoen LuyckxDimitri Van RyckeghemSaskia van der StraatenJolien LaridaenEveline R GoethalsKristina CasteelsJesse VanbesienMarieke den BrinkerMartine Cools et al.

A1 Journal Article in JOURNAL OF PEDIATRIC PSYCHOLOGY

Sexual and fertility issues in congenital lifelong urology patients

Gunter De WinAnne-Françoise SpinoitTariq AbbasNina CallensMartine CoolsRebecca DeansRizwan HamidMoneer K. HannaPankaj JoshiRose Khavari et al.

Bookchapter in Congenital lifelong urology : caring for the adolescent and adult patient with congenital and childhood GU conditions

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD) : recommendations from the COST action DSDnet

Christa FlückAnna NordenströmS Faisal AhmedSalma R AliMarta BerraJoanne HallBirgit KöhlerVickie PasterskiRalitsa RobevaKatinka Schweizer et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

The current landscape of European registries for rare endocrine conditions

S R AliJ BryceMartine CoolsM KorbonitsJ G BeunD TaruscioT DanneM DattaniO M DekkersA Linglart et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Update on the genetics of differences of sex development (DSD)

Dorien BaetensHannah VerdinElfride De BaereMartine Cools

A1 Journal Article in BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

2018

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Dorien BaetensTülay GüranBerenice B MendoncaNathalia L GomesLode De CauwerFrank PeelmanHannah VerdinMarnik VuylstekeMalaïka Van der LindenHans Stoop et al.

A1 Journal Article in GENETICS IN MEDICINE

Caring for individuals with a difference of sex development (DSD) : a Consensus Statement

Martine CoolsAnna NordenströmRalitsa RobevaJoanne HallPuck WesterveldChrista FlückBirgit KöhlerMarta BerraAlexander SpringerKatinka Schweizer et al.

A1 Journal Article in NATURE REVIEWS ENDOCRINOLOGY

Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS Type II)

Nadine C HornigPascal RodensHelmuth DörrNina C HubnerAlexandra E KulleHans-Udo SchweikertMaik WelzelSusanne BensOlaf HiortRalf Werner et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Evaluation of DSD training schools organized by cost action BM1303 'DSDnet'

R. BertalanA. Lucas-HeraldZ. KolesinskaM. BerraMartine CoolsA. BalsamoO. Hiort

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

FOG2/ZFPM2 is a noval disease gene for primary ovarian insufficiency

Dorien BaetensNiels De VrieseNick ReynaertAnne BachelotPhilippe TouraineJerome DulonPetra De SutterFranchis De ZegherMartine CoolsElfride De Baere

Genetics in endocrinology : approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD) : position paper of EU COST Action BM 1303 ‘DSDnet’

L AudíS F AhmedN KroneMartine CoolsK McElreaveyP M HolterhusA GreenfieldA BashambooO HiortS A Wudy et al.

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Histological assessment of gonads in DSD : relevance for clinical management

Johannes A. SpoorJ. Wolter OosterhuisRemko HersmusKatharina BiermannKatja P. WolffenbuttelMartine CoolsZainab KazmiSyed F. AhmedLeendert H.J. Looijenga

A1 Journal Article in SEXUAL DEVELOPMENT

Involving Individuals with disorders of sex development and their parents in exploring new models of shared learning : proceedings from a dsdnet cost action workshop

Joanne HallCaroline SandersArianne DessensJillian BryceNina CallensMartine CoolsMariam KourimeAndreas KyriakouAlexander SpringerLaura Audi et al.

A1 Journal Article in SEXUAL DEVELOPMENT

Management of gonads in adults with androgen insensitivity : an international survey

Lloyd TackEllen MarisLeendert HJ LooijengaSabine E HannemaLaura AudiBirgit KoehlerPaul-Martin HolterhusStefan RiedlAmy WisniewskiChrista E Flueck et al.

A1 Journal Article in HORMONE RESEARCH IN PAEDIATRICS

Modulation of VEGF-A signaling by beta cells : during pregnancy and islet transplantation

Willem StaelsHarry HeimbergMartine CoolsNico De Leu

Proandrogenic and antiandrogenic progestins in transgender youth : differential effects on body composition and bone metabolism

Lloyd TackMargarita CraenBruno LapauwStefan GoemaereKaatje ToyeJean KaufmanSARA VANDEWALLEGuy T'SjoenHans-Georg ZmierczakMartine Cools

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The 'External Genitalia Score' to describe external genitalia in male and female infants : a European multicenter validation study

Saskia van der StraatenAlexander SpringerDoris HebenstreitAleksandra ZezicUrsula TonnhoferAneta GawlikMalgorzata BaumertKamila SzeligaSara DebulpaepAn Desloovere et al.

2017

Birth weight in different etiologies of disorders of sex development

S PoyrazogluF DarendelilerS AhmedL HughesJ BryceJ JiangM RodieO Hiorts HannemaS Bertelloni et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis

J SchaefersMartine CoolsKATHLEEN DE WAELEI GiesV BeauloyeP LysyI FrancoisD BeckersJean De Schepper

A1 Journal Article in CLINICAL ENDOCRINOLOGY

Conditional islet hypovascularisation does not preclude beta cell expansion during pregnancy in mice

Willem StaelsYves HeremansGunter LeuckxNaomi Van GassenCiro SalinnoSofie De GroefMartine CoolsEli KeshetYuval DorHarry Heimberg et al.

A1 Journal Article in DIABETOLOGIA

Consecutive cyproterone acetate and estradiol treatment in late-pubertal transgender female adolescents

Lloyd TackRobin HeyseMargarita CraenKarlien DhondtHEIDI VANDEN BOSSCHEJolien LaridaenMartine Cools

A1 Journal Article in JOURNAL OF SEXUAL MEDICINE

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients : the paradigm of congenital hypogonadotropic hypogonadism

Corin BadiuMarco BonomiIvan BorshchevskyMartine CoolsMargarita CraenCristina GhervanMichael HauschildEli HershkovitzErik HrabovszkyAnders Juul et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Diagnostiek bij disorders/differences of sex development (DSD)

Yolande van BeverHennie BruggenwirthArianne DessensSabine HannemaKatja WolffenbuttelElfride De BaereMartine CoolsMaaike HaadsmaConny van Ravenswaaij-ArtsBirgit Sikkema-Radatz et al.

Een holistisch zorgbeleid voor Differences of Sex Development

Nina CallensTim van der GriftMartine Cools

A2 Journal Article in TIJDSCHRIFT VOOR SEKSUOLOGIE

FOG2 (ZFPM2) is a candidate disease gene for primary ovarian insufficiency

Dorien BaetensAnne BachelotNiels De VrieseFranchis De ZegherNele ReynaertJerome DulonBernadette DhontPetra De SutterPhilippe TouraineElfride De Baere et al.

Genetic defects of female sexual differentiation

Martine CoolsHedi L Claahsen- Van der GrintenElfride De BaereNina CallensArianne Dessens

Bookchapter in Hormones, brain and behavior

Global application of the assessment of communication skills of paediatric endocrinology fellows in the management of differences in sex development using the Espe E-Learning.Org portal

Laura J.C. KranenburgSam T.H. ReerdsMartine CoolsJulie AldersonMiriam MuscarellaEllie MagriteMartijn KuiperShereen AbdelgaffarAntonio BalsamoRaja Brauner et al.

A1 Journal Article in HORMONE RESEARCH IN PAEDIATRICS

Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity : prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling

Martine CoolsKP WolffenbuttelR HersmusBB MendoncaJ KaprovaSLS DropH StoopAJM GillisJW OosterhuisEMF Costa et al.

A1 Journal Article in HUMAN REPRODUCTION

Non-coding variation in disorders of sex development

Dorien BaetensBerenice Bilharinho de MendonçaHannah VerdinMartine CoolsElfride De Baere

A1 Journal Article in CLINICAL GENETICS

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Dorien BaetensHans StoopFrank PeelmanAnne-Laure TodeschiniToon RosseelFrauke CoppietersReiner VeitiaLeendert LooijengaElfride De BaereMartine Cools

A1 Journal Article in GENETICS IN MEDICINE

SeX(X)Y genes : unraveling the molecular pathogenesis of disorders of sex development

Dorien BaetensMartine CoolsElfride De Baere

SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management

Cindy ColsonEstelle AubryMaryse CartignyAmélie-Anne RémyHélène FranquetXavier LeroyGéraldine KéchidChristine LefèvreRémi BessonMartine Cools et al.

A1 Journal Article in CLINICAL GENETICS

Update on the pathophysiology and risk factors for the development of malignant testicular germ cell tumors in complete androgen insensitivity syndrome

Martine CoolsLeendert Looijenga

A1 Journal Article in SEXUAL DEVELOPMENT

2016

A recurrent germline mutation in the 5’UTR of the androgen receptor causes complete androgen insensitivity by activating aberrant uORF translation

Nadine C HornigCarine de BeaufortFriederike DenzerMartine CoolsMartin WabitschMartin UkatAlexandra E KulleHans-Udo SchweikertRalf WernerOlaf Hiort et al.

A1 Journal Article in PLOS ONE

Cognitive, emotional,and psychosocial functioning of girls treated with pharmacological puberty blockage for idiopathic central precocious puberty

Slawomir WojniuszNina CallensStefan SütterlinStein AnderssonJean De SchepperInge GiesJesse VanbesienKathleen De WaeleSara Van AkenMargarita Craen et al.

A1 Journal Article in FRONTIERS IN PSYCHOLOGY

Consecutive lynestrenol and cross-sex hormone treatment in biological female adolescents with gender dysphoria : a retrospective analysis

Lloyd TackMargarita CraenKarlien DhondtHEIDI VANDEN BOSSCHEJolien LaridaenMartine Cools

A1 Journal Article in BIOLOGY OF SEX DIFFERENCES

Costs of pleasure and the benefits of pain : self-perceived genital sensation, anatomy and sexual dysfunction

Nina CallensGuy BronselaerPetra De SutterGRETA DE CUYPEREGuy T'SjoenPiet HoebekeMartine Cools

A1 Journal Article in SEXUAL HEALTH

De genetische revolutie in beeld gebracht : nieuwe diagnostische mogelijkheden voor aandoeningen van de geslachtsontwikkeling

Dorien BaetensMartine CoolsElfride De Baere

A4 Journal Article in GUNAÏKEIA (NEDERLANDSE EDITIE)

Disorders of sex development : insights from targeted gene sequencing of a large international patient cohort

Stefanie EggersSimon SadedinJocelyn A. van den BergenGorjana RobevskaThomas OhnesorgJacqueline HewittLuke LambethAurore BoutyIngrid M. KnarstonTiong Yang Tan et al.

A1 Journal Article in GENOME BIOLOGY

Global application of assessment of competencies of paediatric endocrinology fellows in the management of differences of sex development (DSD) using the ESPE e-learning.org portal

Laura KranenburgSam TH ReerdsMartine CoolsJulie AldersonMiriam MuscarellaKalinka GrijpinkCharmian A QuigleyStenvert LS Drop

A2 Journal Article in MEDICAL SCIENCE EDUCATOR

Gonadal dysgenesis in disorders of sex development : diagnosis and surgical management

KP WolffenbuttelR HersmusH StoopK BiermannPiet HoebekeMartine CoolsLHJ Looijenga

A1 Journal Article in JOURNAL OF PEDIATRIC UROLOGY

Identification of an AR mutation-negative class of androgen insensitivity by determining endogenous AR activity

N. C. HornigM. UkatH. U. SchweikertO. HiortR. WernerS. L. S. DropMartine CoolsI. A. HughesL. AudiS. F. Ahmed et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Response to the Council of Europe Human Rights commissioner's issue paper on human rights and intersex people

Martine CoolsMargaret SimmondsSue ElfordJoke GorterS. Faisal AhmedFranco D’AlbertonAlex SpringerOlaf Hiort

Editorial material

The contribution of the androgen receptor (AR) in human spatial learning and memory : a study in women with complete androgen insensitivity syndrome (CAIS)

Sven MüllerTina VerwilstA Van BranteghemGuy T'SjoenMartine Cools

A1 Journal Article in HORMONES AND BEHAVIOR

The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene

A. Lucas-HeraldS. BertelloniA. JuulJ. BryceJ. JiangM. RodieR. SinnottM. BoroujerdiM. Lindhardt JohansenO. Hiort et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

2015

Calcium and bone homeostasis in heterozygous carrier's of CYP24A1 mutations: a cross-sectional study

Martine CoolsStefan GoemaereDorien BaetensAnn RaesAn DesloovereJean KaufmanJean De SchepperIvo JansDirk VanderschuerenJaak Billen et al.

A1 Journal Article in BONE

Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome

Veronique BeauloyeKarlien DhondtW BuysseA NyakasaneF ZechJean De SchepperSara Van AkenKATHLEEN DE WAELEMargarita CraenI Gies et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Hyperparathyreoïdie bij kinderen: presentatie en behandeling van een parathyreoïdadenoom

Delphine GrysonKATHLEEN DE WAELESara Van AkenWouter HuvenneMartine CoolsHubert VermeerschJean De Schepper

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Sexual quality of life after total phalloplasty in men with penile deficiency: an exploratory study

Nina CallensGRETA DE CUYPEREGuy T'SjoenStan MonstreyNicolaas LumenErik Van LaeckePiet HoebekeMartine Cools

A1 Journal Article in WORLD JOURNAL OF UROLOGY

2014

Advances in molecular markers of germ cell cancer in patients with disorders of sex development

Yvonne G van der ZwanMartine CoolsLeendert HJ Looijenga

Bookchapter in Understanding differences and disorders of sex development (DSD)

An update on surgical and non-surgical treatments for vaginal hypoplasia

Nina CallensGRETA DE CUYPEREPetra De SutterStan MonstreySteven WeyersPiet HoebekeMartine Cools

A1 Journal Article in HUMAN REPRODUCTION UPDATE

Changes over time in sex assignment for disorders of sex development

Zofia KolesinskaS Faisal AhmedMarek NiedzielaJillian BryceMarta Molinska-GluraMartina RodieJipu JiangRichard O SinnottIeuan A HughesFeyza Darendeliler et al.

A1 Journal Article in PEDIATRICS

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology

Jana Kaprova-PleskacovaHans StoopHennie BrüggenwirthMartine CoolsKatja P WolffenbuttelStenvert LS DropMarta SnajderovaJan LeblJ Wolter OosterhuisLeendert HJ Looijenga

A1 Journal Article in MODERN PATHOLOGY

Desmopressin lyophilisate for the treatment of central diabetes insipidus : first experience in very young infants

KATHLEEN DE WAELEMartine CoolsAnn De GuchtenaereJohan Vande WalleAnn RaesSara Van AkenKris De CoenPiet VanhaesebrouckJean De Schepper

A2 Journal Article in INTERNATIONAL JOURNAL OF ENDOCRINOLOGY & METABOLISM

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

Dorien BaetensWilhelm MladenovBARBARA DELLE CHIAIEBjörn MentenAn DesloovereVioleta IotovaBert CallewaertErik Van LaeckePiet HoebekeElfride De Baere et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Germ cell cancer risk in DSD patients

A1 Journal Article in ANNALES D ENDOCRINOLOGIE

Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model

Yvonne G van der ZwanKatharina BiermannKatja P WolffenbuttelMartine CoolsLeendert HJ Looijenga

A1 Journal Article in EUROPEAN UROLOGY

Klinische richtlijn 'Turner syndroom'

Erica LT van den AkkerAAEM [Janiëlle] van AlfenTheo CJ SasMichiel N KerstensMartine CoolsCornelis B Lambalk

A2 Journal Article in NEDERLANDS TIJDSCHRIFT VOOR GENEESKUNDE

Managing the risk of germ cell tumourigenesis in disorders of sex development patients

Martine CoolsLeendert HJ LooijengaKatja P WolffenbuttelGuy T'Sjoen

Bookchapter in Understanding differences and disorders of sex development (DSD)

Novel associations in disorders of sex development : findings from the I-DSD Registry

Kathryn CoxJillian BryceJipu JiangMartina RodieRichard SinnottMona AlkhawariWiebke ArltLaura AudiAntonio BalsamoSilvano Bertelloni et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Quality of life in young patients with type 1 diabetes (T1D): preliminary results (MiPedQoL)

Jolien LaridaenEline Van HoeckeElke De BruyneSara Van AkenMartine CoolsLiesbet Goubert

The past, the present, the future : genital treatment practices in disorders of sex development under scrutiny

Nina CallensMartine CoolsPiet Hoebeke

Vaginal dilation treatment in women with vaginal hypoplasia: a prospective one-year follow-up study

Nina CallensSteven WeyersStan MonstreySABIEN STOCKMANBIRGIT VAN HOORDEEline Van HoeckeGRETA DE CUYPEREPiet HoebekeMartine Cools

A1 Journal Article in AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

2013

Androgen receptor function links human sexual dimorphism to DNA methylation

Ole AmmerpohlSusanne BensMahesh AppariRalf WernerBernhard KornStenvert LS DropFrans VerheijenYvonne van der ZwanTrevor BunchLeuan Hughes et al.

A1 Journal Article in PLOS ONE

Cardiovascular pathology in males and females with 45,X/46,XY mosaicism

Katya De GrooteMartine CoolsJean De SchepperMargarita CraenInge FrançoisDaniel DevosKarlien CarbonezBenedicte EyskensDaniël De Wolf

A1 Journal Article in PLOS ONE

Forkhead transcription factors in genetic disease

Dorien BaetensHannah VerdinMartine CoolsElfride De Baere

Bookchapter in eLS

Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia)

Achmad Zulfa JuniartoBestari A SetyawatiIka P MirantiArdy SantosaRemko HersmusHans StoopMartine CoolsJ Wolter OosterhuisStenvert LS DropSultana MH Faradz et al.

A1 Journal Article in JOURNAL OF CLINICAL PATHOLOGY

Self-assessment of genital anatomy and sexual function within a Belgian, Dutch-speaking female population: a validation study

Guy BronselaerNina CallensPetra De SutterGRETA DE CUYPEREGuy T'SjoenMartine CoolsPiet Hoebeke

A1 Journal Article in JOURNAL OF SEXUAL MEDICINE

Sexual quality of life after hormonal and surgical treatment, including phalloplasty, in men with micropenis: a review

Nina CallensGRETA DE CUYPEREEline Van HoeckeGuy T'SjoenStan MonstreyMartine CoolsPiet Hoebeke

A1 Journal Article in JOURNAL OF SEXUAL MEDICINE

Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome

P ElfferichME Van RoyenDJ van den WijngaartJ TrapmanSLS DropELT van den AkkerSJ LusherR BoschT BunchIA Hughes et al.

A1 Journal Article in SEXUAL DEVELOPMENT

Verloop van de typische geslachtsontwikkeling

Martine CoolsJulie Bakker

Bookchapter in Transgenderzorg

2012

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

Stefan WhiteJacqueline HewittErin TurbittYvonne van der ZwanRemko HersmusSten DropPeter KoopmanVincent HarleyMartine CoolsLeendert Looijenga et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Behandeling van vaginale hypo- of aplasie bij aangeboren stoornissen in de geslachtsontwikkeling : een multidisciplinaire aanpak

Nina CallensGRETA DE CUYPEREPiet HoebekeEline Van HoeckeSteven WeyersMartine Cools

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Do surgical interventions influence psychosexual and cosmetic outcomes in women with disorders of sex development?

Nina CallensYvonne G van der ZwanStenvert LS DropMartine CoolsCatharina M BeerendonkKatja P WolffenbuttelArianne B Dessens

A2 Journal Article in ISRN ENDOCRINOLOGY

Long-term psychosexual and anatomical outcome after vaginal dilation or vaginoplasty: a comparative study

Nina CallensGRETA DE CUYPEREKatja P WolffenbuttelCatharina CM BeerendonkYvonne G van der ZwanMarjan Van den BergStan MonstreyMaaike E Van KuykPetra De Sutterthe Belgian-Dutch Study Group on DSD et al.

A1 Journal Article in JOURNAL OF SEXUAL MEDICINE

Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth

Martine CoolsPiet HoebekeKP WolffenbuttelH StoopR HersmusM BarbaroA WedellH BrüggenwirthLHJ LooijengaSLS Drop

A1 Journal Article in EUROPEAN JOURNAL OF ENDOCRINOLOGY

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development

Olaf HiortLutz WünschMartine CoolsLeendert LooijengaPeter Cuckow

A1 Journal Article in JOURNAL OF PEDIATRIC UROLOGY

2011

Gonadal development and tumor formation at the crossroads of male and female sex determination

Martine CoolsKP WolffenbuttelSLS DropJW OosterhuisLHJ Looijenga

A1 Journal Article in SEXUAL DEVELOPMENT

Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism

Martine CoolsJ PleskacovaH StoopPiet HoebekeErik Van LaeckeSLS DropJ LeblJW OosterhuisLHJ LooijengaKP Wolffenbuttel

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Groeihormoontherapie bij kinderen met idiopathisch kleine gestalte : een ethische en maatschappelijke discussie

Mieke BouvryMartine Cools

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Male gender identity in complete androgen insensitivity syndrome

Guy T'SjoenGRETA DE CUYPEREStan MonstreyPiet HoebekeF Kenneth FreedmanMahesh AppeshPaul-Martin HolterhusJohn Van BorselMartine Cools

A1 Journal Article in ARCHIVES OF SEXUAL BEHAVIOR

Multidisciplinair behandelingsprotocol bij vaginale agenesie

Nina CallensKatja P WolffenbuttelGRETA DE CUYPEREStenvert LS DropPiet HoebekeEline Van HoeckeArianne B DessensSteven WeyersBIRGIT VAN HOORDEBie Stockman et al.

Partial deletion of the NR5A1 (SF1) gene, detected by synthetic probe MLPA, in a patient with XY gonadal disorder of sex development

M BarbanoMartine CoolsLHJ LooijengaSLS DropA Wedell

A1 Journal Article in SEXUAL DEVELOPMENT

Testosteronbehandeling bij micropenis

K GaulMartine CoolsPiet HoebekeGuy T'Sjoen

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Tumor risk and clinical follow-up in patients with disorders of sex development

Martine CoolsLeendert HJ Looijenga

A2 Journal Article in PEDIATRIC ENDOCRINOLOGY REVIEW

2010

Congenitale vaginale hypoplasie en psychoseksueel functioneren : een huidige stand van zaken

Nina CallensGreta De CuypereKatja WolffenbuttelStenvert DropPiet HoebekeEline Van HoeckeArianne DessensMartine Cools

A4 Journal Article in GUNAÏKEIA (NEDERLANDSE ED.)

Congenitale vaginale hypoplasie en psychosexueel functioneren: een huidige stand van zaken

Nina CallensGRETA DE CUYPEREKP WolffenbuttelSLS DropPiet HoebekeElien Van HoeckeA DessensMartine Cools

A4 Journal Article in GUNAÏKEIA (NEDERLANDSE EDITIE)

Gonadal tumours and DSD

Leendert HJ LooijengaRemko HersmusBertie HCGM de LeeuwHans StoopMartine CoolsJ Wolter OosterhuisStenvert LS DropKatja P Wolffenbuttel

A1 Journal Article in BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Male gender identity in complete androgen insensitivity syndrome

Guy T'SjoenGRETA DE CUYPEREStan MonstreyPiet HoebekeFK FreedmanJohn Van BorselMartine Cools

The endocrine treatment of transsexual adolescents

Martine CoolsMargarita CraenGuy T'Sjoen

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Tumor risk in disorders of sex development

J PleskacovaR HersmusJW OosterhuisBA SetyawatiSM FaradzMartine CoolsKP WolffenbuttelJ LeblSL DropLH Looijenga

A1 Journal Article in SEXUAL DEVELOPMENT

2009

Aandoeningen van de geslachtsontwikkeling

Martine CoolsElien Van HoeckeGRETA DE CUYPEREGuy T'SjoenBARBARA DELLE CHIAIEErik Van LaeckePiet Hoebeke

A4 Journal Article in PERCENTIEL (NEDERLANDSE ED.)

Advanced pubertal development in two adolescents with new SF-1 mutations

Martine CoolsPiet HoebekeKatja P WolffenbuttelRemko HersmusHennie BruggenwirthMichela BarbaroAnna WedellLeendert HJ LooijengaSten LS Drop

De klinische presentatie van aandoeningen van de seksuele ontwikkeling: het oriënterend diagnostisch bilan bij ambigue genitalia

Jean De SchepperKATHLEEN DE WAELEMartine Cools

A2 Journal Article in Tijdschrift voor geneeskunde

Disorders of sex development: Update on the genetic background, terminology and risk for the development of germ cell tumors.

Martine CoolsLeendert LooijengaKatja WolffenbuttelSten Drop

A1 Journal Article in World Journal of Pediatrics

Genetic defects of female sexual differentiation

Arianne DessensMartine CoolsA Richter-UnruhLHJ LooijengaA GrootegoedSLS Drop

Bookchapter in Hormones, brain and behavior

Stoornissen in de geslachtsontwikkeling: Genetische basis, terminologie en het risico voor de ontwikkeling van kiemceltumoren.

Martine CoolsLHJ LooijengaKP WolffenbuttelSLS Drop

A2 Journal Article in Tijdschrift voor geneeskunde

2008

Aanpak van cryptorchidie bij het kind: state of the art

A2 Journal Article in PATIENT CARE (BELGIE NEDERLANDSE ED.)

Genetische basis, terminologie en het risico voor de ontwikkeling van kiemceltumoren bij stoornissen in de geslachtsontwikkeling

Martine CoolsLHJ LooijengaBJ OttenKP WolffenbuttelSLS Drop

A2 Journal Article in TIJDSCHRIFT VOOR KINDERGENEESKUNDE

New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD)

R HERSMUSBHCGM DE LEEUWKP WOLFFENBUTTELSLS DROPJW OOSTERHUISMartine CoolsLHJ LOOIJENGA

A1 Journal Article in MOLECULAR AND CELLULAR ENDOCRINOLOGY

Phalloplasty as a treatment for severe penile insufficiency

Nicolaas LumenPiet HoebekeStan MonstreyPeter CeulemansMartine Cools

Stem cell factor as a novel diagnostic marker for early malignant germ cells

H STOOPF HONECKERGJMVC GEIJNAJM GILLISMartine CoolsM DE BOERC BOKEMEYERKP WOLFFENBUTTELSLS DROPRR DE KRIJGER et al.

A1 Journal Article in JOURNAL OF PATHOLOGY

2007

Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads

Martine CoolsM BoterR Van GurpH StoopP PoddigheYFC LauSLS DropKP WolffenbuttelLHJ Looijenga

A1 Journal Article in Clinical Endocrinology

Tobacco, alcohol and dietary consumption: behaviour risks associated with testicular cancer?

Mieke Van HemelrijckMartine CoolsPiet Hoebeke

A2 Journal Article in CURRENT UROLOGY

Tumor risk in disorders of sex development (DSD)

LHJ LOOIJENGAR HERSMUSJW OOSTERHUISMartine CoolsSLS DROPKR WOLFFENBUTTEL

A1 Journal Article in BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

2006

Adverse neonatal outcome after maternal biliopancreatic diversion operation: report of 9 cases

Martine CoolsE DuvalA Jespers

A1 Journal Article in European Journal of Pediatrics

Germ cell tumors in the intersex gonad: Old paths, new directions, moving frontiers

Martine CoolsSLS DropKP WolffenbuttelJW OosterhuisLHJ Looijenga

A1 Journal Article in Endocrine Reviews

Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads

Martine CoolsH StoopAMF KersemaekersSLS DropKP WolffenbuttelJP BourguignonJ Slowikowska-HilzcerK KulaS FaradzJW Oosterhuis et al.

A1 Journal Article in Journal of Clinical Endocrinology and Metabolism

Maturation delay of germ cells in trisomy 21 fetuses results in increased risk for the development of testicular germ cell tumors

Martine CoolsF HoneckerH StoopJD VeltmanRR de KrijgerE SteyerbergKP WolffenbuttelC BokemeyerYFC LauSLS Drop et al.

A1 Journal Article in Human Pathology

2005

Differentiation and development of human female germ cells during prenatal gonadogenesis: an immunohistochemical study

H StoopF HoneckerMartine CoolsR de KrijgerC BokemeyerLHJ Looijenga

A1 Journal Article in Human Reproduction

Identification of germ cells at risk for neoplastic transformation in gonadoblastoma

AMF KersemaekersF HoneckerMartine CoolsH StoopM MolierK WolffenbuttelC BokemeyerYFC LauJW OosterhuisLHJ Looijenga

A1 Journal Article in Human Pathology

Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes

Martine CoolsK Van AerdeAMF KersemaekersM BoterSLS DropKP WolffenbuttelEW SteyerbergJW OosterhuisLHJ Looijenga

A1 Journal Article in Journal of Clinical Endocrinology and Metabolism

2004

A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter

Martine CoolsRP RoomanJ WautersY JacquemynMVL Du Caju

A1 Journal Article in Fertility and Sterility

2000

Long-term effects of specific immunotherapy, administered during childhood, in asthmatic patients allergic to either house-dust mite or to both house-dust mite and grass pollen

Martine CoolsHP Van BeverJJ WeylerWJ Stevens

A1 Journal Article in Allergy