The Biochemical and Phenotypic Characterization of Females Homozygous for 5 Alpha-Reductase-2 Deficiency
November 1995
in “
The Journal of Clinical Endocrinology & Metabolism
”
New to Estradiol? There is a guide in the encyclopedia. Read the guide → 5 alpha-reductase-2 deficiency 5 alpha-dihydrotestosterone DHT testosterone testosterone/DHT ratio estradiol follicular development urinary steroid metabolite ratios 3 alpha,5 alpha-androstanediol glucuronide sebum production 5 alpha-reductase-1 isoenzyme hirsutism menstrual disorders menarche hypothalamic/pituitary ovarian
Studysummary In this study, females with 5 alpha-reductase-2 deficiency exhibited decreased body hair, normal sebum production, and delayed menarche, suggesting a role for DHT in hair growth and menstrual function.
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The study characterized the biochemical and physiological effects of decreased 5 alpha-dihydrotestosterone (DHT) in three females homozygous for 5 alpha-reductase-2 deficiency from a Dominican kindred. These females exhibited decreased body hair and no acne, with normal to elevated plasma testosterone and low DHT, leading to an increased testosterone/DHT ratio. Despite delayed menarche, all were fertile, and two had twins, suggesting that DHT and/or the DHT/estradiol ratio may influence follicular development. Elevated urinary steroid metabolite ratios and low 3 alpha,5 alpha-androstanediol glucuronide were observed. Normal sebum production indicated regulation by the 5 alpha-reductase-1 isoenzyme. The findings underscored the role of DHT in body hair growth, hirsutism, and menstrual disorders, and suggested that 5 alpha-reductase-2 might be involved in menarche at the hypothalamic/pituitary and/or ovarian level.
