A clinical case of partial androgen resistance syndrome (Reifenstein syndrome)

Abstract

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.

Keywords

• androgen resistance
• reifenstein syndrome
• testicular feminization syndrome
• male sex hormones
• androgen receptor gene
• mutation