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

Disorders of Sex Development (DSD) among 46, XY individuals are rare and challenging
conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and …

Considering that children and adults with DSD may be at risk of several comorbidities a
clear aetiological diagnosis will guide further management. To date, a firm diagnosis is not …

Introduction Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it
can be associated with 46, XX, 46, XY or mosaic 45, X/46, XY karyotypes. Gonadal …

Purpose 46, XY disorders (or differences) of sex development (DSD) are a group of clinical
conditions with variable genetic background; correct diagnosis is often difficult, but it permits …

Background: The term disorders of sex development (DSD) includes congenital conditions
in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum …

Background Mutations in known causative genes and cytogenetically detectable
chromosomal rearrangements account for a fraction of cases with 46, XY disorders of sex …

46, XY differences/disorders of sex development (DSDs) are a group of congenital disorders
that manifest as male gonadal hypoplasia or abnormalities of the external genitalia …

The evaluation and management of a newborn with ambiguous genitalia must be
undertaken as quickly as possible and with great sensitivity for the child's family. Where …

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