21-Hydroxylase Deficiency Associated with Male Infertility: Report of 2 Cases with Gene Analyses

Chihiro Sumida; Nobuyuki Kondoh; Masafumi Kurajoh; Hidenori Koyama; Zenta Tsutsumi; Yuji Moriwaki; Tetsuya Yamamoto

doi:10.2169/internalmedicine.50.5083

CASE REPORTS

21-Hydroxylase Deficiency Associated with Male Infertility: Report of 2 Cases with Gene Analyses

Chihiro Sumida, Nobuyuki Kondoh, Masafumi Kurajoh, Hidenori Koyama, Zenta Tsutsumi, Yuji Moriwaki, Tetsuya Yamamoto

Author information

Keywords: infertility, congenital adrenal hyperplasia, 17-hydroxyprogesterone, gonadotropin, androgen

JOURNAL OPEN ACCESS

2011 Volume 50 Issue 12 Pages 1317-1321

DOI https://doi.org/10.2169/internalmedicine.50.5083

Details

Abstract

We treated two patients with male infertility due to 21-hydroxylase deficiency. Endocrinologic examinations disclosed low levels of LH and FSH, with elevated ACTH and 17-OH-progesterone in both. In addition, a small testicular tumor was found in Case 1, which disappeared after adrenal replacement. Suppressed gonadotropin levels caused by increased androgen seemed to underlie the sperm dysfunction in these patients. Dexamethasone and then clomiphene were administered in Case 1, and dexamethasone in Case 2. Spermatogenesis was somewhat improved in both patients and pregnancy achieved in Case 2, though spontaneous abortion later occurred.

Corresponding author

Register with J-STAGE for free!