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

Background 46, XY disorders of sex development (46, XY DSD) are genetically
heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have …

Gonadal dysgenesis (GD) is a rare cause of differences of sex development (DSD) with
highly variable clinical and genetic conditions. Although identification of the causative …

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

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

Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to
complete sex reversal, represent a major concern for patients and their families. DSD are …

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

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 …

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 …

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 …