5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by a mutation in SRD5A2, a gene encoding the enzyme 5α-reductase type 2 (5αR2). The condition is rare, affects only genetic males, and has a broad spectrum.

5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. Explore symptoms, inheritance, genetics of this condition.

2022年10月17日 · This activity reviews 5-alpha-reductase deficiency, an important cause of ambiguous genitalia in children. Initially, the phenotype of children with 5-alpha-reductase deficiency can vary from underdeveloped male genitalia to fully developed female genitalia.

2023年3月31日 · What is 5 alpha reductase deficiency? Learn about this genetic condition, including treatment options and how it differs from androgen insensitivity syndrome.

What is 5-alpha Reductase Deficiency? 5-alpha Reductase Deficiency (5ARD) is a genetic condition that affects people with 46,XY chromosomes and testes. These individuals produce normal amounts of testosterone but cannot convert it into a stronger hormone called DHT.

2021年12月8日 · 5-alpha-reductase type 2 deficiency (5-ARD) is an autosomal recessive sex-limited condition resulting in the inability to convert testosterone to the more physiologically active...

5-alpha reductase deficiency is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT).

2024年7月26日 · 5-alpha reductase deficiency is a hereditary condition found in those with 46, XY chromosomes, typically indicating a male genetic identity. It interferes with sexual development because it prevents the conversion of testosterone to dihydrotestosterone (DHT), a vital hormone for the development of male sexual characteristics.

2024年12月18日 · 5-alpha-reductase deficiency is an autosomal recessive intersex or “disorder of sex development” (DSD) condition caused by a loss-of-function mutation in a gene on chromosome 2.

5‐Alpha reductase deficiency is a genetic disorder causing 46, XY disorder of sex development (DSD). Typical clinical feature is a male with ambiguous genitalia or undervirilization at birth. Here we report three cases of this disorder within a family.