A5082209184- Sexual Differentiation and Disorders
- Hormonal and reproductive studies
- Adrenal Hormones and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Growth Hormone and Insulin-like Growth Factors
- Urological Disorders and Treatments
- Hormonal Regulation and Hypertension
- Metabolism and Genetic Disorders
- Testicular diseases and treatments
- Glioma Diagnosis and Treatment
- Urologic and reproductive health conditions
- Childhood Cancer Survivors' Quality of Life
- Pituitary Gland Disorders and Treatments
- Adrenal and Paraganglionic Tumors
- LGBTQ Health, Identity, and Policy
- Ovarian function and disorders
- Sperm and Testicular Function
- Reproductive Health and Technologies
- Pediatric Urology and Nephrology Studies
- Genetics and Neurodevelopmental Disorders
- Electrolyte and hormonal disorders
- Neuroendocrine Tumor Research Advances
- Assisted Reproductive Technology and Twin Pregnancy
- Cardiac Imaging and Diagnostics
- Cerebrovascular and Carotid Artery Diseases
Radboud University Nijmegen
2016-2025
Radboud University Medical Center
2016-2025
University Medical Center
2015-2024
Amalia Kinderziekenhuis
2016-2024
Amsterdam University Medical Centers
2023
Diponegoro University
2023
Expertisecentrum Nederlands
2023
Radboud Institute for Molecular Life Sciences
2019-2022
Amsterdam UMC Location University of Amsterdam
2016
University Medical Center Utrecht
2016
Dehydroepiandrosterone (DHEA) sulfotransferase, known as SULT2A1, converts the androgen precursor DHEA to its inactive sulfate ester, DHEAS [corrected], thereby preventing conversion of an active androgen. SULT2A1 requires 3'-phosphoadenosine-5'-phosphosulfate (PAPS) for catalytic activity. We have identified compound heterozygous mutations in gene encoding human PAPS synthase 2 (PAPSS2) a girl with premature pubarche, hyperandrogenic anovulation, very low levels, and increased levels. In...
Purpose To evaluate the prevalence of, and risk factors for, early endocrine disorders in childhood brain tumor survivors (CBTS). Patients Methods This nationwide study cohort consisted of 718 CBTS who were diagnosed between 2002 2012, survived ≥ 2 years after diagnosis. with craniopharyngeoma or a pituitary gland excluded. Results all investigations, which performed at diagnosis during follow-up, collected from patient charts. Multivariable logistic regression was used to associations...
An Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult 2 patient representatives. The endorsed by the European Society for Pediatric Endocrinology, Endocrinology Academy of Andrology. aim to create practice guidelines clinical assessment puberty induction individuals with congenital pituitary or gonadal hormone deficiency. A systematic literature search conducted, evidence graded according Grading...
BackgroundSteroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes differences development (DSD), which remain unexplained.MethodsWe conducted retrospective analysis on the so far largest international cohort individuals variants, identified through I-DSD registry and research network.FindingsAmong 197 we confirmed diverse phenotypes. Over 70% 46, XY had severe DSD phenotype, while 90% XX...
Testicular adrenal rest tumours (TART) are a well-known complication in adult male patients with congenital hyperplasia (CAH), reported prevalence of up to 94%. In adulthood, the associated gonadal dysfunction most probably due longstanding obstruction seminiferous tubules. The aim our study was determine presence TART and their influence on function childhood.Retrospective study.Scrotal ultrasound performed 34 children CAH 21-hydroxylase deficiency who were between 2 18 years old. FSH, LH,...
Context:In male patients with congenital adrenal hyperplasia (CAH), testicular rest tumors (TART) are frequently present.These can interfere function.Intensifying glucocorticoid therapy does not always lead to tumor regression and improvement of function.Recently, testis-sparing surgery was introduced for treatment TART. Objective:The aim this study evaluate volume, symptoms, pituitary-gonadal function in CAH caused by 21-hydroxylase deficiency bilateral TART before after surgery.
Context:In male patients with congenital adrenal hyperplasia (CAH), testicular rest tumors are frequently found that may interfere gonadal function.Objective: Our objective was to determine steroid-producing features of tumors. Design and Setting:The study is descriptive took place at a university medical center.Patients: Eight adult CAH bilateral were treated testis-sparing surgery. Interventions:In all but one patient, spermatic veins cannulated during surgery blood samples collected...
Current knowledge on gonadal function in congenital adrenal hyperplasia (CAH) is mostly limited to single-center/country studies enrolling small patient numbers. Overall data indicate that can be compromised men with CAH.To determine CAH within the European 'dsd-LIFE' cohort.Cross-sectional clinical outcome study, including retrospective from medical records.Fourteen academic hospitals included 121 aged 16-68 years. Main measures were serum hormone concentrations, semen parameters and...
The knowledge about health status in adults with disorder of sex development (DSD) is scarce.A cross-sectional observational study 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 others) DSD. Mean age was 32.4 ± 13.6 year (range 16-75). cohort divided into: Turner (n = 301), Klinefelter 224), XY-DSD 222), XX-DSD (excluding congenital adrenal hyperplasia (CAH) and 46,XX males) 21), 46,XX-CAH 226) 45,X/46,XY 45). Perceived objective statuses were measured...
Classic androgens such as dehydroepiandrosterone, androstenedione, and testosterone are generally measured for diagnosis treatment monitoring in children adolescents with hyperandrogenism, can occur congenital adrenal hyperplasia, premature pubarche, or polycystic ovarian syndrome. However, adrenally-derived 11-oxygenated also contribute to the androgen pool should therefore be considered clinical management. Nevertheless, paediatric reference intervals lacking. Therefore, we developed a...
In adult patients with congenital adrenal hyperplasia (CAH), the presence of testicular rest tumours (TART) is an important complication leading to gonadal dysfunction and infertility. These can be already found in childhood puberty. this paper, we review embryological, histological, biochemical, clinical features TART discuss treatment options.
Testicular adrenal rest tumors (TART) are one of the major long term complications in patients with congenital hyperplasia. Although several adrenal-like properties have been assigned to these benign lesions, etiology has not confirmed yet.The aim this study was describe TART more detail by analyzing (steroidogenic) characteristics that may be classified as cortex or Leydig cell specific.Gene expression analysis qPCR performed for 14 genes tissue (n = 12) and compared healthy control...
dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences sex development (DSD). This focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. The aims to assess quality life (QoL) as measure psychosocial adaptation, psychosexual and mental health aspects major outcomes. Health status functioning, medical surgical therapies, participants’ views care, psychological social support, sociodemographic...