21-hydroxylase deficiency associated with male infertility: report of 2 cases with gene analyses

Intern Med. 2011;50(12):1317-21. doi: 10.2169/internalmedicine.50.5083. Epub 2011 Jun 15.

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.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / complications*
  • Adrenal Hyperplasia, Congenital / drug therapy
  • Adrenal Hyperplasia, Congenital / enzymology
  • Adrenal Hyperplasia, Congenital / genetics
  • Adult
  • Base Sequence
  • Clomiphene / therapeutic use
  • DNA Mutational Analysis
  • DNA Primers / genetics
  • Dexamethasone / therapeutic use
  • Female
  • Humans
  • Infertility, Male / drug therapy
  • Infertility, Male / enzymology*
  • Infertility, Male / etiology*
  • Infertility, Male / genetics
  • Male
  • Pregnancy
  • Spermatogenesis / drug effects
  • Steroid 21-Hydroxylase / genetics*

Substances

  • DNA Primers
  • Clomiphene
  • Dexamethasone
  • CYP21A2 protein, human
  • Steroid 21-Hydroxylase