1995/11/01 by Melissa D. Katz, Li‐Qun Cai, Yuan‐Shan Zhu +4 · 54 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Sexual Differentiation and Disorders #Hormonal and reproductive studies #Ovarian function and disorders #Endocrinology #Internal medicine #Dihydrotestosterone #Ovulation #Biology #Luteinizing hormone #Testosterone (patch) #Male pseudohermaphroditism #Androgen #Medicine #Hormone
paper · doi:10.1210/jcem.80.11.7593420
published in The Journal of Clinical Endocrinology & Metabolism 80(11), 3160-3167 (Oxford University Press)
openalex publication_date 1995/11/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
The biochemical and physiologic manifestations of decreased 5 alpha-dihydrotestosterone (DHT) in females are characterized. Three females from the large Dominican kindred with 5 alpha-reductase-2 deficiency were identified as homozygous for a point mutation (R246W, C-->T) on exon 5 of the 5 alpha-reductase-2 gene by single strand DNA conformational polymorphism analysis and DNA sequence analysis. Body hair was decreased; there was no history of acne. Despite delayed menarche, all were fertile, and two had twins. Urinary 5 beta/5 alpha C19 and C21 steroid metabolite ratios were elevated. Plasma testosterone was normal to elevated, with low DHT, resulting in an increased testosterone/DHT ratio. 3 alpha,5 alpha-Androstanediol glucuronide was low. Menstrual cycle profiling performed in two subjects showed ovulatory gonadotropin peaks. Sebum production was normal. 5 alpha-Reductase-2-deficient homozygotic females demonstrate the importance of DHT in the physiology and pathophysiology of body hair growth. Normal sebum implies regulation by the 5 alpha-reductase-1 isoenzyme. Delayed puberty suggests involvement of 5 alpha-reductase-2 in menarche at the hypothalamic/pituitary and/or ovarian level. As two had nonidentical twins, DHT and/or the DHT/estradiol ratio may regulate follicular development, with lower levels permitting more than one dominant follicle per cycle and higher levels impairing follicular development and ovulation. Thus, females with 5 alpha-reductase-2 deficiency highlight a role for DHT in hirsutism and/or menstrual disorders.