PMID- 30805004
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 1687-9627 (Print)
IS  - 1687-9635 (Electronic)
VI  - 2019
DP  - 2019
TI  - 45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype.
PG  - 2529080
LID - 10.1155/2019/2529080 [doi]
LID - 2529080
AB  - The phenotypic spectrum of 45,X/46,XY mosaic males varies greatly. Previous 
      reports have only described cases with either oligozoospermia, growth 
      retardation, or elevated gonadotropins. However, the present case presented with 
      normozoospermia, and normal height, sperm DNA fragmentation index (DFI), and 
      gonadotropins. The male and his spouse were referred to The Fertility Clinic, 
      Skive Regional Hospital, due to 2 years of infertility. After failure of several 
      attempts of assisted reproductive treatment (ART), the male underwent genetic 
      analysis. Conventional karyotyping in peripheral lymphocytes yielded a low-grade 
      45,X/46,XY mosaicism, confirmed by fluorescence in situ hybridization (FISH) 
      showing 6% 45,X cells. A FISH test performed on interphase nuclei from buccal 
      mucosal cells yielded one cell with only one X-signal (0.6%), explaining the 
      normal phenotype of the patient, but not the infertility. FISH test for sperm 
      aneuploidy showed normal range parameters, except for a 10-fold elevated 
      gonosomal nullisomy rate (2.1%). Hence, germinal mosaicism may be an explanation 
      of the infertility of the case. Increased sex nullisomy levels may reflect an 
      aberrant testicular environment compromising fertility even though sperm euploidy 
      rates and other sperm parameters do not preclude a successful treatment with ART. 
      Based on these results, the couple decided to use donor semen for their 
      subsequent intrauterine insemination treatment and obtained a successful 
      pregnancy.
FAU - Ketheeswaran, Shathmigha
AU  - Ketheeswaran S
AUID- ORCID: 0000-0002-3452-5046
AD  - The Fertility Clinic Skive Regional Hospital, Skive Regional Hospital, Resenvej 
      25, 7800 Skive, Denmark.
AD  - Faculty of Health, Aarhus University, Aarhus, Denmark.
FAU - Alsbjerg, Birgit
AU  - Alsbjerg B
AD  - The Fertility Clinic Skive Regional Hospital, Skive Regional Hospital, Resenvej 
      25, 7800 Skive, Denmark.
AD  - Faculty of Health, Aarhus University, Aarhus, Denmark.
FAU - Christensen, Preben
AU  - Christensen P
AD  - SPZ Lab A/S, Fruebjergvej 3, 2100 Copenhagen, Denmark.
FAU - Gravholt, Claus Hojbjerg
AU  - Gravholt CH
AD  - Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 
      Aarhus, Denmark.
AD  - Department of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, 
      Denmark.
FAU - Humaidan, Peter
AU  - Humaidan P
AD  - The Fertility Clinic Skive Regional Hospital, Skive Regional Hospital, Resenvej 
      25, 7800 Skive, Denmark.
AD  - Faculty of Health, Aarhus University, Aarhus, Denmark.
LA  - eng
PT  - Case Reports
DEP - 20190120
PL  - United States
TA  - Case Rep Med
JT  - Case reports in medicine
JID - 101512910
PMC - PMC6360613
EDAT- 2019/02/26 06:00
MHDA- 2019/02/26 06:01
PMCR- 2019/01/20
CRDT- 2019/02/27 06:00
PHST- 2018/11/18 00:00 [received]
PHST- 2018/12/20 00:00 [accepted]
PHST- 2019/02/27 06:00 [entrez]
PHST- 2019/02/26 06:00 [pubmed]
PHST- 2019/02/26 06:01 [medline]
PHST- 2019/01/20 00:00 [pmc-release]
AID - 10.1155/2019/2529080 [doi]
PST - epublish
SO  - Case Rep Med. 2019 Jan 20;2019:2529080. doi: 10.1155/2019/2529080. eCollection 
      2019.