Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the
action of androgens, determining a female phenotype in persons with a 46, XY karyotype …

In India, newborn screening (NBS) is essential for detecting health problems in infants.
Despite significant progress, significant gaps and challenges persist. India has made great …

The syndromes of congenital adrenal hyperplasia (CAH), particularly their classical variants,
present diverse medical and psychosocial challenges to the affected individual at all stages …

Background We describe the phenotypic spectrum and timing of diagnosis and
management in a large series of patients with disorders of sexual development (DSD) …

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 …

Hypospadias is a common form of congenital atypical sex development that is often
associated with other congenital comorbidities. Many genes have been associated with the …

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

Abstract Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of
glucocorticoids with regular follow up to manage associated morbidities. The current review …

Study objective To present clinical features that characterize ovotesticular disorder of sex
development (OT-DSD) in the Korean population. Among the patient cohort who were …

Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to
occur in 1/2500 pregnancies. A group of DSDs are the 46, XX testicular DSD. Today, the …