• PMID: 7782053
• Gene Name: GNRH1
• Condition: Azoospermia, tubuli seminiferi and hyperplasia of the Leydig cells
• Association: Associated
• Population size: 1
• Population details: 1 XX male with constitutional delay of growth and development and genetic short stature
• Age: 17 yra
• Sex: Male
• Infertility type: Male infertility
• Associated genes: LHRH
• Other associated phenotypes: Azoospermia, tubuli seminiferi and hyperplasia of the Leydig cells

Hormonal, genetic and clinical findings in an XX male

Birnbacher R, Frisch H.

A 17-year-old XX male with constitutional delay of growth and development and genetic short stature is described. Testosterone levels were normal but luteinizing-hormone-releasing-hormone-stimulated gonadotropin concentrations were increased. Testicular biopsy showed atrophic tubuli seminiferi and hyperplasia of the Leydig cells, and the spermiogram indicated azoospermia. Molecular analysis demonstrated the SRY gene close to the centromere of the paternally derived X chromosome. Clinical data in addition to the cytogenetic and molecular aspects are discussed. FAU - Birnbacher, R AU - Birnbacher R AD - Pediatric Department, University Hospital Vienna, Austria.