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 …

Context: The prevalence of phenotypic females with a 46, XY karyotype is low, thus current
knowledge about age and clinical presentation at diagnosis is sparse even for the most …

Objective: 46, XY differences and/or disorders of sex development (DSD) are clinically and
genetically heterogeneous conditions. Although complete androgen insensitivity syndrome …

Disorders of sex development (DSD) are defined as congenital conditions in which
development of chromosomal, gonadal or anatomical sex is atypical. In 46, XY DSD, the …

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 Disorders of sex development (DSD) consist of a wide range of disorders and
are commoner in those with an XY karyotype. In over half of these cases who have a 46, XY …

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 …

Purpose The etiology of 46, XY disorders of sex development (46, XY DSD) is complex, and
studies have shown that different series of patients with 46, XY DSD has different genetic …

Disorders of sex development (DSD) are congenital conditions characterized by atypical
development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from …

Abstract 46, XY disorders of sex development (DSD) present with diverse phenotypes and
complicated genetic causes. Precise genetic diagnosis contributes to accurate …