Are human male patients with DAX1/NR0B1 mutations infertile?

Ann Endocrinol (Paris). 2014 May;75(2):126-7. doi: 10.1016/j.ando.2014.03.003. Epub 2014 Apr 21.

Abstract

DAX-1 stands for Dosage sensitive sex-reversal, Adrenal hypoplasia congenital (AHC), on the X chromosome. DAX-1 mutations usually cause primary adrenal insufficiency or congenital adrenal hypoplasia in early childhood and hypogonadotropic hypogonadism (MIM # 300200). DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Cases of azoospermia have been reported, as well as unsuccessful gonadotropin treatments. The clinician should be informed that TESE-ICSI technique carries a potential hope to father non-affected children, as shown in this review.

Keywords: Azoospermia; Azoospermie; DAX-1 mutations; TESE–ICSI.

Publication types

  • Review

MeSH terms

  • Adrenal Insufficiency / congenital*
  • Adrenal Insufficiency / drug therapy
  • Adrenal Insufficiency / genetics
  • Azoospermia / drug therapy
  • Azoospermia / etiology
  • DAX-1 Orphan Nuclear Receptor / genetics*
  • DAX-1 Orphan Nuclear Receptor / physiology
  • Genetic Counseling
  • Gonadal Dysgenesis, 46,XY / drug therapy
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Gonadotropins, Pituitary / therapeutic use
  • Hormone Replacement Therapy
  • Humans
  • Hypogonadism / drug therapy
  • Hypogonadism / genetics
  • Infertility, Male / genetics*
  • Male
  • Sperm Injections, Intracytoplasmic
  • Sperm Retrieval
  • Spermatogenesis / physiology

Substances

  • DAX-1 Orphan Nuclear Receptor
  • Gonadotropins, Pituitary
  • NR0B1 protein, human

Supplementary concepts

  • Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal