A clinical case of partial androgen resistance syndrome (Reifenstein syndrome)
| Autor: | L. K. Dzeranova, E. A. Pigarova, E. V. Ivannikova, L. F. Kurilo, V. B. Chernykh, A. V. Polyakov |
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| Jazyk: | ruština |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Alʹmanah Kliničeskoj Mediciny, Vol 48, Iss 7, Pp 494-499 (2020) |
| Druh dokumentu: | article |
| ISSN: | 2072-0505 2587-9294 |
| DOI: | 10.18786/2072-0505-2020-48-051 |
| Popis: | In the paper we describe a clinical case and provide integrated clinical and laboratory data of a patient with partial androgen resistance syndrome. A 25-year-old male was referred for medical evaluation for an infertile marriage. After a comprehensive assessment, he was diagnosed with hypergonadotropic hypogonadism, coronal hypospadia, left-sided varicocele, and oligoasthenoteratozoospermia. Cytogenetic analysis showed normal male karyotype (46,XY). Molecular genetic analysis identified the c.731_736delCGGTGT mutation in the exon 1 of the androgen receptor (AR) gene, what allowed for making a diagnosis of Reifenstein syndrome. In addition, we give a brief literature review of the clinical conditions associated with abnormal androgen sensitivity and discuss the problems of testing and counseling of patients with partial androgen resistance syndrome. |
| Databáze: | Directory of Open Access Journals |
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