Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty

Endocrine journal

article

Daisuke Ariyasu¹  Fusa Nagamatsu²  Keiko Aso⁴  Kazuhisa Akiba²  Yukihiro Hasegawa² 

[1] Department of Pediatrics, Kawasaki Municipal Hospital;Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center;Department of Pediatrics, Kumamoto University Hospital;Department of Pediatrics, Toho University Omori Medical Center;Department of Molecular Endocrinology, National Research Institute for Child Health and Development

关键词: 5α-reductase type 2;    SRD5A2;    Micropenis;    Testosterone;    Dihydrotestosterone;   

DOI  :  10.1507/endocrj.EJ22-0112

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

5α-reductase type 2 (5αRD2) deficiency is a 46,XY disorder of sex development caused by impaired conversion of testosterone (T) to dihydrotestosterone (DHT). Penile enlargement therapy is important for male patients with 46,XY 5αRD2 deficiency who have undermasculinized external genitalia, such as severe micropenis. High-dose T and percutaneous DHT replacement are reportedly efficacious for penile enlargement in patients with this disorder. We presented herein the longitudinal course of four patients with 46,XY 5αRD2 deficiency who received T and DHT. T replacement therapy during infancy increased the stretched penile length (SPL) in three of the patients but was ineffective in one patient. DHT was administered to the three patients after T replacement therapy and further increased the SPL. During and after puberty, two patients asked for and received T replacement therapy, which contributed to increasing their SPL. A semen test in one patient with T replacement therapy at age 27 years revealed cryptozoospermia despite normal testicular volume. The clinical course of our patients during infancy indicated that DHT therapy may be preferrable to T replacement therapy for penile enlargement in patients with 5αRD2 deficiency. During and after puberty, T replacement therapy promoted penile enlargement possibly because of increased conversion of T to DHT via increased 5α-reductase type 1 activity even in patients in whom it was ineffective during infancy. In conclusion, DHT is effective for penile enlargement during infancy in patients with 5αRD2 deficiency while T replacement therapy is a viable option during puberty.

【 授权许可】

Unknown