BACKGROUND:

Infertility is the incapacity over one year to achieve pregnancy in the sexually active couple not using contraception. Numerical or trisomy alterations, or structural anomalies, such as inversions or translocations, are rare. Chromosomal alterations, either numerical or structural, occur in about 0.4% of the general population. There is a 10-fold increase (4%) in the frequency of chromosomal alterations in patients with concentrations under 10 million spermatozoa, which should be considered in the management approach to infertile patients with severe oligospermia or azoospermia. Polymorphisms do not impact the phenotype, but they have been associated with poor spermatogenesis and male infertility. The majority of patients with the 46,XY,9qh+ karyotype present with severe oligospermia and very few with azoospermia.

CLINICAL CASE:

A 38-year-old man with the heterochromatic polymorphism variant 46,XY,9qh+ presented with azoospermia as the primary cause of infertility, confirmed through karyotype analysis.

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