ICEECE2012 Poster Presentations Male Reproduction (63 abstracts)
Mild androgen insensitivity syndrome due to novel mutation in androgen receptor gene
E. Ivannikova 1 , L. Dzeranova 1 , L. Kurilo 2 , A. Polyakov 2 , V. Chernykh 2 & E. Pigarova 1
1Endocrinology Research Centre, Moscow, Russian Federation; 2Research Center for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation.
We describe a clinical case of the patient with the syndrome of partial resistance to androgens. The patient, a man 25 years old, complained of a barren marriage. Lab and clinical findings included high gonadotropin and testosterone levels, hypogonadal appearance, coronal hypospadias, left-sided varicocele, oligoastenotheratozoospermia. The results of cytogenetic analysis showed a normal male karyotype (46, XY). Molecular genetic studies identified mutation in exon 1 of androgen receptor gene – s.731_736delCGGTGT, which allowed a precise diagnosis – Reifenstein syndrome.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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