Abstract:
:The DAZ (deleted in azoospermia) gene family is considered the major AZFc ("azoospermia factor" c) candidate responsible for male infertility. However, other genes have been recently mapped to this region and they could contribute to the AZFc phenotype. In particular, the testis-specific CDY1 (chromadomain protein 1) gene has one copy within the DAZ cluster and another one at its distal end. Therefore, this gene could be associated with the spermatogenic damage observed in DAZ-deleted patients since at least one CDY1 copy is invariably absent in these patients. In this study, we investigated whether selected infertile patients affected by different testiculopathies caused by DAZ deletions retained CDY1 and if a genotype-phenotype relation could be demonstrated. We found 3 out of 17 patients with absence of both CDY1 copies, while 14 patients have only one CDY1 copy absent. Two out of the 3 patients with deletion of both copies of CDY1 were affected by severe hypospermatogenesis while one patient presented Sertoli cell-only syndrome. Therefore, there was no clear relation between genotype and phenotype, and the loss of the distal copy of CDY1 does not seem to worsen the phenotype of infertile patients with deletion of the DAZ gene cluster. However, a possible contribution of CDY1 in determining the spermatogenic alteration could not be excluded.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Ferlin A,Moro E,Rossi A,Foresta Cdoi
10.1007/BF03343814keywords:
subject
Has Abstractpub_date
2001-02-01 00:00:00pages
RC4-6issue
2eissn
0391-4097issn
1720-8386journal_volume
24pub_type
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journal_title:Journal of endocrinological investigation
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journal_title:Journal of endocrinological investigation
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journal_title:Journal of endocrinological investigation
pub_type: 临床试验,杂志文章,随机对照试验
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abstract::Vitamin D via its receptor has essential actions on parathyroid cells, inhibiting PTH secretion, and parathyroid cell proliferation. While the effects of vitamin D depletion in the pathogenesis of secondary hyperparathyroidism in elderly individuals or in the occurrence of parathyroid hyperplasia in patients with rena...
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
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journal_title:Journal of endocrinological investigation
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doi:10.1007/s40618-020-01228-2
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journal_title:Journal of endocrinological investigation
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journal_title:Journal of endocrinological investigation
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journal_title:Journal of endocrinological investigation
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更新日期:1992-03-01 00:00:00
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journal_title:Journal of endocrinological investigation
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更新日期:2005-01-01 00:00:00
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pub_type: 临床试验,杂志文章,随机对照试验
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