PMID- 28861318
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200929
IS  - 2149-3235 (Print)
IS  - 2149-3057 (Electronic)
IS  - 2149-3235 (Linking)
VI  - 43
IP  - 3
DP  - 2017 Sep
TI  - DiGeorge Syndrome Associated with Azoospermia: First case in the literature.
PG  - 390-392
LID - 10.5152/tud.2017.08555 [doi]
AB  - DiGeorge syndrome (DGS) is one of the most frequently seen chromosomal 
      abnormalities. The major genetic cause of DGS is a microdeletion on chromosome 
      22q11.2. Majority of the cases are diagnosed during their childhood. DGS is 
      rarely considered and diagnosed in adulthood. Herein, we report the first case of 
      a patient with DGS and azoospermia in the literature. Our patient was a 
      35-year-old male with mild dysmorphic features, hypernasal voice, mental 
      retardation, and azoospermia. His laboratory tests and echocardiographic 
      assessments were normal. Clinical clues to DGS were hypernasal voice and 
      dysmorphic features with mild mental retardation. The diagnosis of DGS was 
      confirmed by fluorescence in situ hybridization (FISH). Negative effects of 
      cognitive disorders on reproductivity are already known; however, we haven't find 
      any studies in the literature that evaluated infertile patients with DGS using 
      semen analysis, apart from these potential unfavourable effectc of cognitive 
      disorders. Coexistence of DGS and azoospermia may be completely coincidental, but 
      azoospermia can be also one of the unknown clinical features of this syndrome. 
      Many patients with a mild phenotype of DGS may be underdiagnosed. DGS should be 
      considered in adults who have mental, behavioral, or psychiatric disorders with 
      mild dysmorphic features, even in the absence of classical features.
FAU - Ozcan, Aysegul
AU  - Ozcan A
AD  - Department of Medical Genetics, Yuzuncu Yil University School of Medicine, Van, 
      Turkey.
FAU - Sahin, Yavuz
AU  - Sahin Y
AD  - Department of Medical Genetics, Necip Fazil City Hospital, Kahramanmaras, Turkey.
LA  - eng
PT  - Journal Article
DEP - 20170803
PL  - Turkey
TA  - Turk J Urol
JT  - Turkish journal of urology
JID - 101643563
PMC - PMC5562265
OTO - NOTNLM
OT  - Azoospermia
OT  - DiGeorge syndrome
OT  - phenotypic variability
COIS- Conflict of Interest: No conflict of interest was declared by the authors.
EDAT- 2017/09/02 06:00
MHDA- 2017/09/02 06:01
PMCR- 2017/09/01
CRDT- 2017/09/02 06:00
PHST- 2016/11/08 00:00 [received]
PHST- 2017/01/06 00:00 [accepted]
PHST- 2017/09/02 06:00 [entrez]
PHST- 2017/09/02 06:00 [pubmed]
PHST- 2017/09/02 06:01 [medline]
PHST- 2017/09/01 00:00 [pmc-release]
AID - tju-43-3-390 [pii]
AID - 10.5152/tud.2017.08555 [doi]
PST - ppublish
SO  - Turk J Urol. 2017 Sep;43(3):390-392. doi: 10.5152/tud.2017.08555. Epub 2017 Aug 
      3.