The Biochemical and Phenotypic Characterization of Females Homozygous for 5 Alpha-Reductase-2 Deficiency

    November 1995 in “ The Journal of Clinical Endocrinology & Metabolism ”
    Melissa D. Katz, Li‐Qun Cai, Yuan‐Shan Zhu, Cecilia Herrera, M DeFillo-Ricart, C.H.L. Shackleton, Julianne Imperato‐McGinley
    TLDR Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
    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.
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