Sex development relies on the sex-specific action of gene networks to differentiate the
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …

Disorders (or differences) of sex development (DSD) are a heterogeneous group of
congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired …

Abstract An Endo-European Reference Network guideline initiative was launched including
16 clinicians experienced in endocrinology, pediatric and adult and 2 patient …

Background Although Y chromosomal genes are involved in male sex development,
spermatogenesis, and height growth, these genes play no role in the survival or mitosis of …

Purpose To assess the population-based incidence, prevalence, and age at diagnosis of
individuals with 45, X/46, XY mosaicism (and associated variants) and describe the …

The International Disorders of Sex Development (I-DSD) and International Congenital
Adrenal Hyperplasia registry (I-CAH) Registries were originally developed over 10 years …

Context Differences of sex development (DSD) represent a wide range of conditions
presenting at different ages to various health professionals. Establishing a diagnosis …

Background Structural abnormalities as well as minor variations of the Y chromosome may
cause disorders of sex differentiation or, more frequently, azoospermia. This study aimed to …

Abstract Differences of Sex Development (DSD) comprise a variety of congenital conditions
characterized by atypical chromosomal, gonadal, or anatomical sex. Diagnosis and …

Abstract 45, X/46, XY chromosomal mosaicism presents a range of clinical manifestations,
including phenotypes from Turner syndrome through genital abnormalities to apparently …