SRY-negative 46,XX infertile male with Leydig cell hyperplasia: clinical, cytogenetic, and molecular analysis and review of the literature

Fertil Steril. 2010 Jul;94(2):753.e5-9. doi: 10.1016/j.fertnstert.2010.01.050. Epub 2010 Mar 12.


Objective: To describe a 46,XX male whose infertility is not accounted for by a translocation of the SRY gene to the X chromosome or to the autosomes.

Design: Case report.

Setting: Fertility Center of CHA Gangnam Medical Center, Seoul, South Korea.

Patient(s): A 29-year-old male with normal male phenotype, in whom seminal analysis showed complete azoospermia.

Intervention(s): Laboratory evaluations, radiologic studies, testicular biopsy, G-banding karyotype, in situ fluorescence hybridization, and polymerase chain reaction.

Main outcome measure(s): Clinical and laboratory findings.

Result(s): Peripheral blood culture for chromosome studies revealed 46,XX chromosome complement. Cytogenetic and molecular analyses excluded the presence of SRY gene. Radiologic studies displayed male structures without Müllerian ducts. Gonadal biopsy showed testicular Leydig cell hyperplasia.

Conclusion(s): This is a very rare case of testicular differentiation in a 46,XX chromosomal constitution without SRY. This finding suggests that some unknown genes downstream participate in sex determination.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Azoospermia / genetics
  • Azoospermia / pathology
  • Gonadal Dysgenesis, 46,XX / genetics*
  • Gonadal Dysgenesis, 46,XX / pathology*
  • Humans
  • Hyperplasia
  • Leydig Cells / pathology*
  • Male
  • SOXB1 Transcription Factors / genetics*


  • SOX1 protein, human
  • SOXB1 Transcription Factors