PMID- 18554162
OWN - NLM
STAT- MEDLINE
DCOM- 20080811
LR  - 20080616
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 12
IP  - 2
DP  - 2008 Jun
TI  - Genetic diagnosis in infertile men with numerical and constitutional sperm 
      abnormalities.
PG  - 195-202
LID - 10.1089/gte.2007.0056 [doi]
AB  - Infertile men having numerical or structural sperm defects may carry several 
      genetic abnormalities (karyotype abnormalities, Y chromosome microdeletions, 
      cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations, 
      androgen receptor gene mutations, and abnormalities seen in sperm cells) leading 
      to this situation. First we aimed to investigate the relationship between the 
      numerical and constitutional (morphological) sperm anomalies and the genetic 
      disorders that can be seen in infertile males. Our other aim was to compare two 
      different kinds of kits that we use for the detection of Y chromosome 
      microdeletions. Sixty-three infertile males [44 nonobstructive azoospermic, 8 
      severe oligozoospermic, and 11 oligoasthenoteratozoospermic] were investigated in 
      terms of somatic chromosomal constitutions and microdeletions of the Y 
      chromosome. Sperm aneuploidy levels were analyzed by fluorescence in situ 
      hybridization (FISH) in sperm cells obtained from the semen of six OAT patients. 
      Microdeletion and sex chromosome aneuploidy (47,XXY) rates in somatic cells were 
      found to be approximately 3.2% and 4.7%, respectively. Sperm aneuploidy rates 
      were determined as 9%, 22%, and 47% in three patients out of six. Two of these 
      three patients also had high rates of head anomalies in semen samples. High 
      correlation was found between sperm aneuploidy rates and sperm head anomalies. 
      Since the introduction of the assisted reproductive techniques for the treatment 
      of severe male infertility, genetic tests and genetic counseling became very 
      important due to the transmission of genetic abnormalities to the next 
      generation. Thus in a very near future, for a comprehensive male infertility 
      panel, it will be essential to include additional genetic tests, such as CFTR 
      gene mutations, sperm mitochondrial DNA mutations, and androgen receptor gene 
      mutations, besides the conventional chromosomal analyses, Y chromosome 
      microdeletion detection, and sperm-FISH analyses.
FAU - Cinar, Cigdem
AU  - Cinar C
AD  - Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, 
      Turkey. cigdemcinar78@hotmail.com
FAU - Yazici, Cenk
AU  - Yazici C
FAU - Ergunsu, Sebnem
AU  - Ergunsu S
FAU - Beyazyurek, Cagri
AU  - Beyazyurek C
FAU - Javadova, Dilara
AU  - Javadova D
FAU - Saglam, Yaman
AU  - Saglam Y
FAU - Tarcan, Tufan
AU  - Tarcan T
FAU - Guney, Ahmet Ilter
AU  - Guney AI
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
RN  - 0 (CFTR protein, human)
RN  - 0 (DNA, Mitochondrial)
RN  - 0 (Receptors, Androgen)
RN  - 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator)
SB  - IM
MH  - Aneuploidy
MH  - *Azoospermia/diagnosis/genetics
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Y/genetics
MH  - Cystic Fibrosis Transmembrane Conductance Regulator/genetics
MH  - DNA, Mitochondrial/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Infertility, Male/diagnosis/genetics
MH  - Male
MH  - Mutation
MH  - *Oligospermia/diagnosis/genetics
MH  - Receptors, Androgen/genetics
MH  - Spermatozoa/cytology
EDAT- 2008/06/17 09:00
MHDA- 2008/08/12 09:00
CRDT- 2008/06/17 09:00
PHST- 2008/06/17 09:00 [pubmed]
PHST- 2008/08/12 09:00 [medline]
PHST- 2008/06/17 09:00 [entrez]
AID - 10.1089/gte.2007.0056 [doi]
PST - ppublish
SO  - Genet Test. 2008 Jun;12(2):195-202. doi: 10.1089/gte.2007.0056.