2017, Number 3
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Rev Mex Urol 2017; 77 (3)
Azoospermia in an infertile male with heterochromatic polymorphism 46,XY,9qh+
Gómez-Regalado F, Gallo-Ochoa M, Vargas-Martínez F, Monterrosas-Minnuti CA, Almanzor-González OE, Camarena-Romero SA
Language: Spanish
References: 19
Page: 202-212
PDF size: 204.46 Kb.
ABSTRACT
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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