title: [Ring 22 chromosome syndrome induced azoospermia: a case report and literature review].
abstract: OBJECTIVE
  To investigate the clinical phenotype and genetic characteristics of an azoospermia patient with ring 22 chromosome syndrome.
  
  
  METHODS
  We analyzed the clinical data of an azoospermia patient with ring 22 chromosome syndrome and reviewed relevant literature.
  
  
  RESULTS
  The patient was a short 29-year-old male, with bilateral testes small in size and soft in texture. Seminal examination indicated azoospermia. Chromosome analysis showed the karyotype of the patient to be 46, XY, r (22) (p11, q25). The level of testosterone was low, and the testicular tissue was brittle and easy to break. Pathological microscopy revealed reduced number of Sertoli cells and germ cells in the seminiferous tubules and thinner layers of cells. All the germ cells were spermatogonia. Neither spermatocytes nor sperm cells were found, which suggested complete spermatogenic failure. Mild interstitial fibrosis was visible in part of the seminiferous tubule walls.
  
  
  CONCLUSIONS
  Patients with ring 22 chromosome syndrome usually represent normal clinical phenotypes. However, this kind of genetic abnormality often induces severe testicular damage and spermatogenic arrest, which may result in azoospermia.
authors: Center of Reproductive Medicine, Xiamen Maternity and Child Health Care Hospital, Xiamen, Fujian 361003, China.
authors: Yan-Wei
authors: YW
authors: Sha
authors: Lu
authors: L
authors: Ding
authors: Yue-Qiang
authors: YQ
authors: Song
authors: Yun-Sheng
authors: YS
authors: Ge
authors: Huan
authors: H
authors: Zeng
authors: Ping
authors: P
authors: Li
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000209:etiology / Q000235:genetics* / Q000151:congenital; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D008297:Male; D009845:Oligospermia; D012303:Ring Chromosomes; D013091:Spermatogenesis; D013093:Spermatogonia; D013577:Syndrome