Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions that result in discordance between an individual's sex chromosomes, gonads …

An increasing number of children are born with intersex variation (IV; ambiguous genitalia/
hermaphrodite, pseudohermaphroditism, etc.). Evidence shows that endocrine-disrupting …

Background The identification of causative mutations is important for treatment decisions
and genetic counseling of patients with disorders of sex development (DSD). Here, we …

Context: Although a rare occurrence, previously undiagnosed disorders of sex development
(DSD) with hyperandrogenism are sometimes detected by hormonal screening during the …

Genetic mutations of steroidogenic factor 1 (also known as Ad4BP or Nr5a1) have
increasingly been reported in patients with 46, XY disorders of sex development (46, XY …

Introduction Disorders of sex development (DSD) constitutes a group of congenital
conditions that affect urogenital differentiation and are associated with chromosomal …

Context Limited data are available on the exact incidence of disorders of sex development
(DSD) with genital ambiguity at birth. Objective To determine frequency of ambiguous …

Disorders of sex development (DSD) are a wide-ranging group of complex conditions that
influence chromosomal, gonadal, and phenotypic sex. The prevalence of DSD is very low …

Objective. The purpose of this study was to describe baseline data on etiological, clinical,
laboratory, and management strategies in Kenyan children and adolescents with Disorders …

Objective The primary objective of this study was to describe the cytological findings of
bowel and (penile) skin‐lined neovaginas in patients with gender dysphoria (GD) and …