Autosomal single-gene disorders involved in human infertility

Area of Science:

• Genetics
• Reproductive Medicine
• Human Fertility

Background:

• Human infertility affects millions globally, with genetic factors playing a crucial role.
• Beyond chromosomal abnormalities, single-gene defects are increasingly recognized as causes of infertility.

Purpose of the Study:

• To review common autosomal recessive and dominant single-gene disorders implicated in human infertility.
• To highlight the diverse clinical manifestations associated with these genetic defects.

Main Methods:

• Literature review of single-gene disorders affecting human fertility.
• Analysis of genes including CFTR, SPATA16, AURKC, CATSPER1, GNRHR, MTHFR, SYCP3, SOX9, WT1, and NR5A1.

Main Results:

• Single-gene defects can lead to a spectrum of reproductive issues, including spermatogenic dysfunction and hypogonadotropic hypogonadism.
• Phenotypes range from reduced sperm parameters and pubertal deficiencies to gonadal dysgenesis and sex reversal.
• Congenital bilateral absence of the vas deferens and premature ovarian failure are associated with some defects.

Conclusions:

• Single-gene disorders represent a significant and diverse genetic cause of human infertility.
• Understanding these genetic underpinnings is crucial for diagnosis and potential therapeutic strategies.