5α-Reductase 2 deficiency - Wikipedia
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 - StatPearls - NCBI Bookshelf
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.
5-alpha reductase deficiency - MedlinePlus
5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. Explore symptoms, inheritance, genetics of this condition.
5-Alpha Reductase Deficiency: How It Affects Hormones
2023年4月27日 · 5-alpha-reductase deficiency is a rare hereditary disorder caused by the mutation of the SRD5A2 gene. It is an autosomal recessive mutation, meaning that you can only get it if both of your parents pass an SRD5A2 gene mutation to you. There are more than 60 different mutations that can cause this.
What to know about 5-alpha reductase deficiency - Medical News Today
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.
5-Alpha-Reductase Deficiency: Practice Essentials ... - Medscape
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 | Lurie Children's
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.
5-alpha-reductase deficiency: Video, Causes, & Meaning - Osmosis
5α- reductase deficiency is a genetic disorder in which a protein called 5α reductase is defective or absent. That’s an enzyme that converts the male hormone testosterone to its more potent form, called dihydrotestosterone.
5-Alpha-Reductase Deficiency Clinical Presentation - Medscape
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 - MediFind
2017年4月1日 · 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).