Related Experiment Video

Updated: May 1, 2026

Mouse Round Spermatid Injection
08:41

Mouse Round Spermatid Injection

Published on: January 26, 2024

1.7K

Are human male patients with DAX1/NR0B1 mutations infertile?

Célia Ravel1, Capucine Hyon2, Jean-Pierre Siffroi2

  • 1Service de biologie de la reproduction, hôpital Sud, 35000 Rennes, France.

Annales D'Endocrinologie
|April 23, 2014
PubMed

Insights

Mutations in DAX-1 (Dosage sensitive sex-reversal, Adrenal hypoplasia congenital) disrupt male fertility. However, TESE-ICSI offers a potential method for affected individuals to father non-affected children.

Area of Science:

  • Genetics
  • Endocrinology
  • Reproductive Biology

Background:

  • DAX-1 (Dosage sensitive sex-reversal, Adrenal hypoplasia congenital) mutations are linked to primary adrenal insufficiency and hypogonadotropic hypogonadism.
  • The DAX-1 protein plays a crucial role in maintaining normal spermatogenesis in males.
  • Male fertility in individuals with DAX-1 mutations is not well-documented, with reported cases of azoospermia.

Purpose of the Study:

  • To review the impact of DAX-1 mutations on male fertility.
  • To explore potential reproductive options for men with DAX-1 related infertility.

Main Methods:

  • Literature review of clinical cases and genetic studies concerning DAX-1 mutations and male fertility.
  • Analysis of reported fertility outcomes and treatment responses in affected individuals.

Main Results:

  • DAX-1 mutations are associated with impaired spermatogenesis and azoospermia in affected males.
  • Previous treatments, such as gonadotropin therapy, have shown limited success in restoring fertility.
  • Testicular Sperm Extraction with Intracytoplasmic Sperm Injection (TESE-ICSI) has emerged as a viable option.

Conclusions:

  • DAX-1 mutations significantly impact male reproductive capacity.
  • TESE-ICSI presents a promising avenue for achieving biological fatherhood in men with DAX-1 mutations.
  • Clinicians should consider TESE-ICSI as a potential treatment for infertility in DAX-1 mutation carriers.
Keywords:
AzoospermiaAzoospermieDAX-1 mutationsTESE–ICSI

More Related Videos

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm05:44

Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm

Published on: March 1, 2019

7.7K
Germ Cell Transplantation and Testis Tissue Xenografting in Mice10:41

Germ Cell Transplantation and Testis Tissue Xenografting in Mice

Published on: February 6, 2012

29.5K

Related Concept Videos

Infertility in Males01:23

Infertility in Males

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
665
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
11.5K
X-Inactivation01:58

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
38.9K
X and Y Chromosomes02:32

X and Y Chromosomes

Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
16.5K
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
4.5K
Spermatogenesis01:41

Spermatogenesis

Spermatogenesis is the process by which haploid sperm cells are produced in the male testes. It starts with stem cells located close to the outer rim of seminiferous tubules. These spermatogonial stem cells divide asymmetrically to give rise to additional stem cells (meaning that these structures “self-renew”), as well as sperm progenitors, called spermatocytes. Importantly, this method of asymmetric mitotic division maintains a population of spermatogonial stem cells in the male...
91.0K