TLDR 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
5α-reductase-2 deficiency caused a disorder in male sexual differentiation, where affected 46,XY individuals had normal to elevated testosterone but decreased dihydrotestosterone (DHT) levels, leading to ambiguous genitalia at birth and often being raised as girls. Despite normal Wolffian differentiation, virilization occurred at puberty due to increased testosterone, prompting many to adopt a male gender role. Affected adults had small prostates, reduced facial and body hair, and no male pattern baldness. Fertility issues arose from genital abnormalities and cryptorchidism, though assisted pregnancies were possible with viable sperm. This condition underscored the critical role of DHT in male sexual differentiation and physiology.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
124 citations,
September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
143 citations,
August 1991 in “Endocrinology” Androgens, like testosterone, are crucial for early testicular descent in rats.
October 2022 in “Endocrine journal” Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
101 citations,
April 1994 in “Baillière's clinical endocrinology and metabolism” 5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.
23 citations,
July 1993 in “Pharmacotherapy” Finasteride treats enlarged prostate and baldness, but may cause limited urinary improvement and sex-related side effects.
93 citations,
February 2009 in “Annals of the New York Academy of Sciences” 5α‐reductase isozymes are crucial for prostate development and health, and targeting them can help prevent and treat prostate issues.
