Explanipedia

EndoCompass Project: Research Roadmap for Reproductive and Developmental Endocrinology Open

Csilla Krausz, Djuro Macut, Marianne Andersen, Anna‐Maria Andersson, Cynthia L. Andoniadou , et al. · 2025

Background: Endocrine science remains underrepresented in European Union research programs despite the fundamental role of hormone health in human well-being. Analysis of the CORDIS database reveals a persistent gap between the societal im…

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD Open

Margherita Sepich, Silvano Bertelloni, Nina Tyutyusheva, Angela K Lucas‐Herald, Inas Mazen , et al. · 2025

Context There is scarce information on the natural history of gonadal function of testicular disorders/differences of sex development (T-DSD) and ovotesticular DSD (OT-DSD). Objective To evaluate gonadal outcome in a large cohort of cases …

EndoCompass project: research roadmap for reproductive and developmental endocrinology Open

Martine Cools, Csilla Krausz, Anders Juul, Djuro Macut, Marianne Andersen , et al. · 2025

Background Endocrine science remains underrepresented in European Union research programs despite the fundamental role of hormone health in human wellbeing. Analysis of the CORDIS database reveals a persistent gap between the societal impa…

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

Silvia Ciancia, М. С. Черенько, Daniel Klink, Kanetee Busiah, Aneta Gawlik-Starzyk , et al. · 2025

Objective Healthcare for transgender and gender-diverse (TGD) adolescents varies across countries; therefore, a specific module dedicated to gender incongruence within the European Registries for Rare Endocrine & Bone Conditions (EuRREB) w…

Continuity of Care in Klinefelter Syndrome: Age-Adapted Modules for Standardized Clinical Data Collection (I-KS) Open

Corinna Grasemann, Claus Højbjerg Gravholt, Leigh Breen, Lise Aksglæde, Angela K Lucas‐Herald , et al. · 2025

Klinefelter Syndrome (KS) is an underdiagnosed condition, affecting approximately 1 in 600 male births. Despite its relatively high prevalence, more than two-thirds of affected individuals remain undiagnosed, and clinical awareness is limi…

Feminine figures: body image and physical characteristics in trans women after puberty suppression and subsequent estradiol therapy Open

Lidewij Sophia Boogers, Emily McDonnell, A. de Vries, Martin den Heijer, A.S. Paul van Trotsenburg , et al. · 2025

Background Several studies have demonstrated an improvement in body image following gender–affirming hormone treatment (GAHT). In transgender girls, puberty suppression (PS) can be initiated before GAHT to prevent masculinization. Aim The …

Novel Insights into the Pathophysiology and Management of Obesity in Childhood and Adolescence Open

Evangelia Charmandari, Sabine E Hannema, Evelien Gevers · 2025

Minipuberty in girls with Turner syndrome provides insight into reproductive potential—a prospective cohort study Open

Sanne van der Coelen, Casper P. Hagen, Sapthami Nadesapillai, Ivonne Bedei, Gerhard Binder , et al. · 2025

Sexual satisfaction and dysfunction in transgender adults following puberty suppression treatment during adolescence Open

Isabelle S van der Meulen, Marijn Arnoldussen, Anna I. R. van der Miesen, Sabine E Hannema, Thomas D. Steensma , et al. · 2025

Background Sexual satisfaction and dysfunction in transgender and gender-diverse (TGD) individuals following treatment with puberty suppression (PS) have not yet been studied and remain a topic of clinical and academic concerns. Aim This s…

Gonadectomy in individuals with a difference of sex development – For whom, when, why, and why not? Open

Sabine E Hannema, Michele A. O’Connell · 2025

Several forms of differences of sex development (DSD) are associated with an increased risk of gonadal germ cell cancer, which can be prevented by a gonadectomy. However, when considering prophylactic gonadectomy potential benefits need to…

TIMING OF PUBERTY SUPPRESSION TREATMENT IN TRANSGENDER ADOLESCENTS AND SEXUAL DYSFUNCTIONS IN ADULTHOOD Open

Ivanka van der Meulen, M Arnoldussen, AIR van der Miesen, Sabine E Hannema, Thomas D. Steensma , et al. · 2025

Objectives This long-term study is the first to discuss sexual dysfunction in transgender individuals that were treated with puberty suppression and gender-affirming hormones in adolescence. Methods 70 participants treated at our clinic be…

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis Open

Rieko Tadokoro‐Cuccaro, Ieuan A. Hughes, Martine Cools, Koen Van de Vijver, Berenice B. Mendonça , et al. · 2025

Background 46,XY gonadal dysgenesis is classified as complete (CGD) or partial (PGD) subtypes. The phenotype of PGD and the long-term outcome is not clearly defined. Objective To evaluate clinical features and pubertal outcome of PGD in a …

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

Neil Lawrence, Irina Bacila, Joseph Tonge, Jeremy Dawson, Gary S. Collins , et al. · 2025

Background Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) affects approximately 1 in 15 000 individuals. We leveraged the power of multicentre registry data to assess the trend and predictors of blood pressur…

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 Open

Tessa H R Stolk, Norah M. van Mello, Lidewij Sophia Boogers, Andreas Meißner, Judith A.F. Huirne , et al. · 2025

Background Gender-affirming treatment for transgender and gender-diverse (TGD) adolescents can consist of puberty suppression (PS) and gender-affirming hormone treatment (GAHT), which may affect fertility. Aim This study aims to evaluate t…

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

Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay‐Sara Sauter , et al. · 2025

Loss-of-Function <i>GHSR</i> Variants Are Associated With Short Stature and Low IGF-I Open

Lauren D Punt, Sander Kooijman, Noa J M Mutsters, Kaiming Yue, Daniëlle C M van der Kaay , et al. · 2025

Context The growth hormone (GH) secretagogue receptor, encoded by GHSR, is expressed on somatotrophs of the pituitary gland. Stimulation with its ligand ghrelin, as well as its constitutive activity, enhances GH secretion. Studies in knock…

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 Open

Sabine E Hannema, Kanetee Busiah, Gary Butler, Hedi L. Claahsen‐van der Grinten, Martine Cools , et al. · 2024

Increasing numbers of transgender and gender diverse adolescents seek endocrine treatment to align their body to their gender identity. In this relatively young field of medicine, there is a limited body of evidence, and the available evid…

Neonatal reference intervals for serum steroid hormone concentrations measured by LC-MS/MS Open

Anouk Olthof, Jolanda C. Naafs, Nitash Zwaveling‐Soonawala, Charlotte A. Heinen, Sabine E Hannema , et al. · 2024

Objectives Congenital adrenal hyperplasia (CAH) is a rare, inherited disorder of adrenal steroid synthesis. In many countries it is part of the neonatal screening program enabling early diagnosis and treatment. In case of an abnormal neona…

Puberty progression in girls with Turner syndrome after ovarian tissue cryopreservation Open

Sanne van der Coelen, Sapthami Nadesapillai, Ronald Peek, Didi Braat, Gianni Bocca , et al. · 2024

The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands Open

R. J. Martens, Anita Boelen, Michael Kemp, Annet M. Bosch, Eveline Berghout , et al. · 2024

Inconclusive and false-positive newborn screening (NBS) results can cause parental stress and increase healthcare expenditures. These results can be reduced by improving NBS algorithms. This was recently done for Congenital Hypothyroidism …

8568 Prevalence of Raised Blood Pressure in Individuals With 46,XY DSD: an I-DSD Registry study Open

Angela K Lucas‐Herald, Jilian Bryce, Ming Chen, Chamidri Naotunna, Margherita Sepich , et al. · 2024

Disclosure: A.K. Lucas-Herald: None. J. Bryce: None. M. Chen: None. C. Naotunna: None. M. Sepich: None. L. Tack: None. M. Cools: None. S. Poyrazoglu: None. E. Globa: None. M. Stancampiano: None. H.L. Claahsen-van der Grinten: None. T. Gura…

8568 Prevalence of Raised Blood Pressure in Individuals With 46,XY DSD: an I-DSD Registry study Open

Angela K Lucas‐Herald, Jillian Bryce, Ming Chen, Chamidri Naotunna, Margherita Sepich , et al. · 2024

Disclosure: A.K. Lucas-Herald: None. J. Bryce: None. M. Chen: None. C. Naotunna: None. M. Sepich: None. L. Tack: None. M. Cools: None. S. Poyrazoglu: None. E. Globa: None. M. Stancampiano: None. H.L. Claahsen-van der Grinten: None. T. Gura…

Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022 Open

Xanthippi Tseretopoulou, Salma Ali, Jillian Bryce, Nadia Amin, Navoda Atapattu , et al. · 2024

Background It is unclear whether targeted monitoring of acute adrenal insufficiency (AI) related adverse events (AE) such as sick day episodes (SDEs) and hospitalization rate in congenital adrenal hyperplasia (CAH) is associated with a cha…

Genome-wide methylation analysis in patients with proximal hypospadias – a pilot study and review of the literature Open

Yolande van Bever, Ruben Boers, Hennie T. Brüggenwirth, Wilfred F. J. van IJcken, Frank Magielsen , et al. · 2024

In patients with proximal hypospadias, often no genetic cause is identified despite extensive genetic testing. Many genes involved in sex development encode transcription factors with strict timing and dosing of the gene products. We hypot…

Shaping the Skeleton: Impact of GnRH Analogue and Sex Hormone Therapy on Skeletal Dimensions in Transgender Individuals Open

Lidewij Sophia Boogers, Boukje Teatske Sikma, Mark‐Bram Bouman, A.S. Paul van Trotsenburg, Martin den Heijer , et al. · 2024

Context Skeletal dimensions vary between sexes. Men typically have broader shoulders and women a wider pelvis. Whether gender-affirming hormone therapy (GAHT) with or without prior puberty suppression (PS) alters these dimensions in transg…

Variations in Volume: Breast Size in Trans Women in Relation to Timing of Testosterone Suppression Open

Lidewij Sophia Boogers, Sebastiaan A Sardo Infirri, Asma Bouchareb, Benthe A M Dijkman, Danithsia Helder , et al. · 2024

Context Breast development is an important outcome for trans women receiving gender-affirming hormone therapy (GAHT). Limited breast development has been reported, possibly because of testosterone exposure during puberty. The impact of pub…

Response to letter to the editor: ‘Gonadal tumour screening in XY gonadal dysgenesis’ Open

Sabine E Hannema, Katja P. Wolffenbuttel, Yolande van Bever, Hennie T. Brüggenwirth, Remko Hersmus , et al. · 2024

investigating the practice of gonadectomy in individuals with DSD through the I-DSD registry (https://sdmregistries.

A European Network for the Investigation of Gender Incongruence in adolescents Open

Lidewij Sophia Boogers, Chantal M Wiepjes, Annemieke S. Staphorsius, Daniel Klink, Silvia Ciancia , et al. · 2024

Background Knowledge regarding the effects and side effects of gender-affirming hormone therapy (GAHT) in adults is rapidly growing, partly through international research networks such as the European Network for the Investigation of Gende…

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

Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd Tack , et al. · 2024

Swiss National Science Foundation (320030-197725) and Boveri Foundation Zürich, Switzerland.

Time Course of Body Composition Changes in Transgender Adolescents During Puberty Suppression and Sex Hormone Treatment Open

Lidewij Sophia Boogers, Sterre Johanna Petronella Reijtenbagh, Chantal M Wiepjes, A.S. Paul van Trotsenburg, Martin den Heijer , et al. · 2023

Context Transgender adolescents can undergo puberty suppression (PS) and subsequent gender-affirming hormone therapy (GAHT) but little information is available on the expected rate of physical changes. Objective To investigate the time cou…

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