Longitudinal Clinical Course in Patients With 5α-Reductase Type 2 Deficiency Treated With Testosterone and Dihydrotestosterone During Infancy and Puberty

    October 2022 in “ Endocrine journal ”
    Daisuke Ariyasu, Fusa Nagamatsu, Keiko Aso, Kazuhisa Akiba, Yukihiro Hasegawa
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    Studysummary In this study of male patients with 46,XY 5α-reductase type 2 deficiency, DHT therapy was effective in achieving penile enlargement during infancy, while testosterone replacement therapy proved more beneficial during puberty, possibly due to increased conversion to DHT. Our plain-language summary of this paper — not a Tressless recommendation.
    In a study of four patients with 5α-reductase type 2 (5αRD2) deficiency, a condition affecting male sexual development, testosterone (T) and dihydrotestosterone (DHT) therapies were evaluated for their effectiveness in penile enlargement. During infancy, T replacement therapy increased stretched penile length (SPL) in three patients but was ineffective in one. Subsequent DHT therapy further increased SPL in the three responsive patients. During and after puberty, T replacement therapy was effective in increasing SPL in two patients, suggesting increased conversion of T to DHT via 5α-reductase type 1 activity. One patient exhibited cryptozoospermia at age 27 despite normal testicular volume. The study suggests that DHT therapy is preferable for penile enlargement during infancy, while T replacement therapy can be effective during puberty for patients with 5αRD2 deficiency.
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