PMID- 32774944
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200928
IS  - 2090-6501 (Print)
IS  - 2090-651X (Electronic)
IS  - 2090-651X (Linking)
VI  - 2020
DP  - 2020
TI  - Nonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia- From Genetics 
      to Clinical Practice.
PG  - 8828740
LID - 10.1155/2020/8828740 [doi]
LID - 8828740
AB  - Azoospermia is diagnosed when no spermatozoa can be detected after centrifugation 
      of seminal fluid on at least two separate occasions. A number of genetic 
      disorders can be related to nonobstructive azoospermia, and in up to 15% of 
      azoospermic males, a genetic disorder is diagnosed. A 36-year-old male with 
      nonobstructive azoospermia was referred to our department of diabetes and 
      endocrinology due to an aberrant testicular biopsy. The biopsy showed a disrupted 
      spermatogenesis with a maturation arrest at the spermatocyte level in most tubuli 
      seminiferi while others showed a Sertoli cell-only syndrome. Screening for Y 
      chromosome microdeletions on peripheral blood using molecular analysis detected a 
      terminal deletion of AZFbc. The result of karyotyping and fluorescence in situ 
      hybridization (FISH) described an isodicentric Y chromosome with karyotype 
      46,X,idic(Y)(q11.22). Based on this case and the current available literature, we 
      conclude that performing a testicular biopsy in patients with a nonmosaic 
      idic(Y)(q) is not meaningful and that the prognosis on infertility is poor. 
      Biological fatherhood is extremely unlikely in these patients, and proper 
      counselling should be provided.
CI  - Copyright (c) 2020 Jolijn Van Cauwenberghe et al.
FAU - Van Cauwenberghe, Jolijn
AU  - Van Cauwenberghe J
AUID- ORCID: 0000-0001-6922-6890
AD  - Antwerp University Hospital, Department of Diabetology-Endocrinology, 
      Wilrijkstraat 10, 2650 Edegem, Belgium.
FAU - Beckers, Sigri
AU  - Beckers S
AD  - Antwerp University Hospital, Department of Genetics, Wilrijkstraat 10, 2560 
      Edegem, Belgium.
FAU - Coremans, Peter
AU  - Coremans P
AD  - AZ Nikolaas, Department of Diabetology-Endocrinology, Moerlandstraat 1, 9100 
      Sint-Niklaas, Belgium.
LA  - eng
PT  - Case Reports
DEP - 20200725
PL  - United States
TA  - Case Rep Endocrinol
JT  - Case reports in endocrinology
JID - 101576457
PMC - PMC7399736
COIS- The authors declare that there are no conflicts of interest.
EDAT- 2020/08/11 06:00
MHDA- 2020/08/11 06:01
PMCR- 2020/07/25
CRDT- 2020/08/11 06:00
PHST- 2020/03/31 00:00 [received]
PHST- 2020/06/21 00:00 [revised]
PHST- 2020/07/08 00:00 [accepted]
PHST- 2020/08/11 06:00 [entrez]
PHST- 2020/08/11 06:00 [pubmed]
PHST- 2020/08/11 06:01 [medline]
PHST- 2020/07/25 00:00 [pmc-release]
AID - 10.1155/2020/8828740 [doi]
PST - epublish
SO  - Case Rep Endocrinol. 2020 Jul 25;2020:8828740. doi: 10.1155/2020/8828740. 
      eCollection 2020.