Open AccessA clinical case of partial androgen resistance syndrome (Reifenstein syndrome)
Author(s) -
Larisa Dzeranova,
Ekaterina Pigarova,
Е. В. Иванникова,
Л. Ф. Курило,
В. Б. Черных,
A. V. Polyakov
Publication year - 2020
Publication title -
alʹmanah kliničeskoj mediciny
Language(s) - English
Resource type - Journals
eISSN - 2587-9294
pISSN - 2072-0505
DOI - 10.18786/2072-0505-2020-48-051
Subject(s) - androgen insensitivity syndrome , androgen receptor , karyotype , androgen , medicine , complete androgen insensitivity syndrome , genetic testing , disorders of sex development , hypergonadotropic hypogonadism , gynecology , bioinformatics , biology , genetics , prostate cancer , gene , chromosome , cancer , hormone
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.