JOURNAL ARTICLE

A cryptozoospermic infertile male with Y chromosome AZFc microdeletion and low FSH levels due to a simultaneous polymorphism in the FSHB gene: a case report.

  • Published In: Human Reproduction, 2024, v. 39, n. 3. P. 504 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Graziani, Andrea; Merico, Maurizio; Grande, Giuseppe; Mambro, Antonella Di; Vinanzi, Cinzia; Rocca, Maria Santa; Selice, Riccardo; Ferlin, Alberto 3 of 3

Abstract

This article focuses on a unique case of male infertility involving a combined genetic alteration: a classic AZFc microdeletion on the Y chromosome and TT homozygosity for the -211G>T polymorphism in the follicle-stimulating hormone beta chain (FSHB) gene. Typically, AZFc deletions cause severe spermatogenic impairment with elevated follicle-stimulating hormone (FSH) levels, but this patient presented with low FSH levels and severe hypospermatogenesis. Treatment with exogenous FSH improved sperm parameters sufficiently to allow sperm cryopreservation for intracytoplasmic sperm injection (ICSI). This case highlights the importance of comprehensive genetic and hormonal evaluation in male infertility to tailor personalized treatment strategies, especially when clinical findings deviate from expected patterns.

Additional Information

  • Source:Human Reproduction. 2024/03, Vol. 39, Issue 3, p504
  • Document Type:Article
  • Subject Area:Science
  • Publication Date:2024
  • ISSN:0268-1161
  • DOI:10.1093/humrep/dead277
  • Accession Number:175801665
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