Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
21-Hydroxylase Deficiency Associated with Male Infertility: Report of 2 Cases with Gene Analyses
Chihiro SumidaNobuyuki KondohMasafumi KurajohHidenori KoyamaZenta TsutsumiYuji MoriwakiTetsuya Yamamoto
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JOURNALS OPEN ACCESS

2011 Volume 50 Issue 12 Pages 1317-1321

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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.

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© 2011 by The Japanese Society of Internal Medicine
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