Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

The medical and psychosocial challenges faced by patients living with
Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a …

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

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

Objective To report uptake of genetic counseling (GC) and prenatal genetic testing after the
finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings …

Typical sex development relies on very complex biological events, which involve specific
interactions of a large number of genes and pathways in a defined spatiotemporal …

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 …

Copy number variations (CNVs) have been implicated in various conditions of differences of
sexual development (DSD). Generally, larger genomic aberrations are more often …

Methods: This retrospective study included the records of people with DSD presenting to a
tertiary centre over 10 years. The age at presentation, sex assignment, gender identity …

Objective Reliable data on prevalence of differences of sex development (DSD) are lacking.
We aimed to estimate population-based prevalence of DSD in Switzerland. Design …