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

Objectives 46, XY difference/disorder of sex development (DSD) is a relatively uncommon
group of heterogeneous disorders with varying degree of underandrogenization of male …

Objective: Disorders of sex development are due to congenital defects in chromosomal,
gonadal, or anatomical sex development. The objective of this study was to determine the …

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 …

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 …

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 …

Objective: To establish an etiological diag-nosis in two unrelated Egyptian children with
ambiguous genitalia through biochemical and molecular analyses. Patients and Methods …

Objectives This study aimed at integrating the clinical and phenotypic characteristics,
hormonal profile and genetic diagnosis of children with malformation syndromes associated …

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

Results: Among 19 patients, eight were diagnosed with disorders of gonadal development
(one with complete gonadal dysgenesis, four with partial gonadal dysgenesis, two with …