Male infertility and Klinefelter Syndrome
case report of azoospermia associated with trisomy X
DOI:
https://doi.org/10.56102/afmo.2025.382Keywords:
Klinefelter Syndrome, Azoospermia, InfertilityAbstract
Klinefelter syndrome is determined by a male karyotype with an extra X chromosome. This syndrome leads to the degeneration of testicular tissue, characterized by fibrosis and hyalinization of the seminiferous tubules, as well as hyperplasia of Sertoli and Leydig cells, which regulate spermatogenesis and testosterone production, respectively. In adulthood, testosterone deficiency occurs due to an increase in luteinizing and follicle stimulating hormones, testicular atrophy, and infertility due to azoospermia. The study aims to report the case of a 32-year-old man undergoing infertility investigation with azoospermia. During a genetic study using karyotype analysis, the patient presented 47, XXY, inv per 9[20] and was diagnosed with Klinefelter syndrome. Therefore, a spermogram and a genetic study must be performed to investigate azoospermia. Furthermore, this syndrome needs to be more frequently diagnosed, as timely and appropriate treatment and follow-up may reduce the physical complications, as well as individual and social outcomes related to this syndrome.
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Copyright (c) 2025 Fernando Augusto Pacífico, José Elimário Cardozo da Silveira, Thiago José Monteiro Borges da Silva Valente, Matheus Batista de Albuquerque, Mário Cruz Couto, Francisca de Alencar Antão, Gabriela Barbosa do Nascimento Macêdo
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