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CATSPER1-related nonsyndromic male infertility
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

CATSPER1-related nonsyndromic male infertility

CATSPER1-related nonsyndromic male infertility is an inherited genetic condition that impairs sperm motility and function, preventing natural conception without the aid of assisted reproductive technologies.

Overview

CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to difficulty conceiving children (a condition called infertility). People with this condition produce sperm that have decreased movement (motility). Affected individuals may also produce fewer sperm cells or sperm cells that are abnormally shaped. These sperm abnormalities prevent people with this condition from conceiving without assisted reproductive technologies.

Frequency

The prevalence of CATSPER1-related nonsyndromic male infertility is unknown.

Causes

Variants (also called mutations) in the CATSPER1 gene cause CATSPER1-related nonsyndromic male infertility. The CATSPER1 gene provides instructions for producing a protein that is found in the tail of sperm cells. The CATSPER1 protein is involved in the movement of the sperm tail, which propels the sperm forward and is required for sperm cells to push through the outside membrane of the egg cell during fertilization.

CATSPER1 gene variants cause sperm cells to produce altered versions of the CATSPER1 protein that are not functional or that can be quickly broken down (degraded) by the cell. Sperm cells that are missing a functional CATSPER1 protein have decreased motion in their tails and move more slowly than normal. These sperm cells cannot push through the outside membrane of the egg cell. As a result, the sperm cells cannot reach the inside of the egg cell to achieve fertilization.

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Males (with one Y chromosome) who have two CATSPER1 gene variants in each cell have CATSPER1-related nonsyndromic male infertility. Females (with two X chromosomes) who have two CATSPER1 gene variants in each cell have no symptoms because they do not produce sperm and the changes only affect sperm function.

Other Names for This Condition

  • CATSPER-related nonsyndromic male infertility
  • CATSPER1-related male infertility

Frequently Asked Questions

Yes, assisted reproductive technologies can bypass the motility defect. Intracytoplasmic sperm injection (ICSI) uses a single sperm—often retrieved via testicular sperm extraction (TESE)—to fertilize an egg in the lab. Once fertilized, the embryo can be transferred to the uterus, allowing a natural pregnancy.
comprehensive evaluation begins with a standard semen analysis to assess sperm count, motility, and morphology. If severe asthenozoospermia (low motility) is noted, the next step is genetic testing: a targeted DNA sequencing panel that includes the CATSPER1 gene, or whole-exome sequencing if a panel is inconclusive. The laboratory will look for pathogenic variants that are homozygous or compound heterozygous, confirming the diagnosis.
Because the defect is genetic and affects the sperm tail’s calcium channel, lifestyle modifications have limited impact on motility. However, maintaining overall reproductive health—avoiding smoking, limiting alcohol, managing weight, and ensuring adequate vitamin D and zinc—can support general sperm quality and may slightly improve other parameters like count or morphology.
CATSPER1-related infertility follows an autosomal recessive pattern. If both parents carry one mutated allele, each pregnancy has a 25 % chance of producing a child with two mutated copies (affected), a 50 % chance of a carrier child, and a 25 % chance of a child with two normal copies. Carrier screening for both partners is recommended before conception.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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