Letters to the editor
Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion
Jadwiga Jaruzelskaa, Aleksandra Korcza, Alina Wojdaa, Piotr Jedrzejczakb, Joanna Bierlac, Tatiana Surmacza, Leszek Pawelczykb, David C Paged, Maciej Koteckiaa Institute
of Human Genetics, Polish Academy of Sciences, 32 Strzeszynska, 60-479 Poznan,
Poland, b Clinic
of Infertility and Reproductive Endocrinology, Medical Academy, Poznan,
Poland, c Department
of Histology, Medical Academy, Poznan,
Poland, d Howard
Hughes Medical Institute, Whitehead Institute for Biomedical Research
and Department of Biology, Massachusetts Institute of Technology,
Cambridge, Massachusetts,
USA
Correspondence to: Dr Jaruzelska, jaruzjad@rose.man.poznan.pl
| The first 150 words of the full text of this article appear below. |
 |
Introduction |
|---|
EDITOR
Over the past 10 years, several authors
have reported microdeletions in the long arm of the Y chromosome (Yq)
in men with idiopathic, non-obstructive azoospermia or severe
oligospermia. These microdeletions were clustered on the Yq fragment
previously described as the azoospermia factor region
(AZF).1 More recently, a number of genes expressed
specifically in the testes and mapping to AZFa, AZFb, or AZFc
subregions have been cloned.2-4 One of the approaches to
understanding the role of these genes in human spermatogenesis is to
look for a correlation between the lack of given AZF genes and the
particular spermatogenic defect in the phenotypes of the patients.
However, attempts to find such a correlation have failed so far.
Instead, a broad spectrum of phenotypes ranging clinically from
azoospermia to severe oligospermia and histologically from Sertoli cell
only syndrome (SCOS) to hypospermatogenesis has been described in
association with AZFc deletions.5 6
A recent study
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Kusz, K.M., Tomczyk, L., Sajek, M., Spik, A., Latos-Bielenska, A., Jedrzejczak, P., Pawelczyk, L., Jaruzelska, J.
(2009). The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction. Mol Hum Reprod
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Aknin-Seifer, I. E., Lejeune, H., Touraine, R. L., Levy, R., Under the aegis of the SALF (Societe d'Andrologie,
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[Abstract] [Full Text]
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