Congenital adrenal hyperplasia ( CAH ) is a collection of autosomal recessive disorders marked by disrupted cortisol production. It...

Complete androgen insensitivity syndrome ( CAIS ) is a type of AIS condition where the cell cannot respond to androgens . This...

Cloacal exstrophy is a rare birth defect leading to significant complications in the lower abdomen, pelvis, and genitourinary system....

Clitorophallus falls under the wider category of disorders of sexual development (DSDs). It's important to clarify that DSDs do not...

Clitoromegaly, a condition marked by the abnormal enlargement of the clitoris, can bring about significant questions and concerns....

Campomelic dysplasia ( CMD ) is a genetic disorder marked by the bowing of long bones and various other skeletal and extraskeletal...

Intersex individuals are born with variations in sex characteristics that do not match typical definitions of male or female. This topic...

Hormones are vital players in our body, regulating many functions from mood to metabolism. Two of the most significant hormones are...

A bifid penis (or double penis ) is a rare congenital defect where two genital tubercles develop. Many species of male marsupials ...

Barber-Say syndrome (BSS) is an extremely rare congenital disorder characterized by excessive hair growth ( hypertrichosis ), delicate...

Aromatase excess syndrome ( AES or AEXS ) is a rarely diagnosed genetic and endocrine syndrome characterized by an overexpression of...

Aromatase deficiency is an uncommon condition marked by very low or absent levels of the enzyme aromatase activity in the body. It is...

Aphallia is a congenital malformation where the phallus ( penis or clitoris ) is missing. In males, it is also referred to as penile...

Androgen insensitivity syndrome ( AIS ) is a condition characterized by the inability to respond to androgens, usually due to androgen...

Androgen deficiency is a medical condition marked by inadequate androgenic activity in the body. It most often affects women and is also...

Ablepharon macrostomia syndrome ( AMS ) is an extremely rare autosomal dominant genetic disorder marked by unusual phenotypic features...

Aarskog–Scott syndrome ( AAS ) is a rare disorder inherited in an X-linked manner and is marked by short stature, facial abnormalities,...

TS 45,X/46,XY mosaicism , also referred to as X0/XY mosaicism and mixed gonadal dysgenesis , is a variation in human sex development...

17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development that leads to 46,XY...

5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive disorder resulting from mutations that disrupt the function of SRD5A2 , a...