Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual's sex chromosomes, gonads …
It is paramount that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge …
Abstract An Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult and 2 patient …
R Naamneh Elzenaty… - The Journal of …, 2024 - academic.oup.com
Abstract Context Steroidogenic factor 1 (NR5A1/SF-1) is a nuclear receptor that regulates sex development, steroidogenesis, and reproduction. Genetic variants in NR5A1/SF-1 are …
MA O'Connell, G Atlas, K Ayers, A Sinclair - Hormone Research in …, 2023 - karger.com
Background: Despite distinct underlying aetiologies, the clinical phenotypes and hormonal profiles of children with various differences of sex development (DSD) are often similar …
Reaching a firm diagnosis is vital for the long-term management of a patient with a difference or disorder of sex development (DSD). This is especially the case in XY DSD …
The International Disorders of Sex Development (I-DSD) and International Congenital Adrenal Hyperplasia registry (I-CAH) Registries were originally developed over 10 years …
TL Leunbach, S O''Toole, A Springer… - Sexual …, 2020 - karger.com
Although the outcome of hypospadias surgery requires careful scrutiny, there is little consensus on what clinical outcome parameters should be considered essential as part of …