[Case of azoospermia patient with a chromosomal abnormality considered a ring Y chromosome]

Hinyokika Kiyo. 2014 Nov;60(11):583-6.
[Article in Japanese]

Abstract

A 43-year-old man came to our clinic complaining of infertility and semen analysis showed azoospermia. Analysis of chromosomes showed a mosaic 45, XO/46, X, +mar1/46, X, +mar2 karyotype, and the marker chromosomes were considered to be two kinds of ring Y chromosomes. Y chromosome microdeletion analysis showed partial deletion of Azoospermic Factor (AZF) a, and complete deletion of AZFb and AZFc. The patient gave up having a child because these results indicated that no sperm would be collected even if Testicular Sperm Extraction (TESE) were performed.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adult
  • Azoospermia / genetics*
  • Chromosome Aberrations*
  • Chromosomes, Human, Y / genetics*
  • Gene Deletion*
  • Humans
  • Male
  • Ring Chromosomes*

Supplementary concepts

  • Y Chromosome Infertility