Mild androgen insensitivity syndrome due to novel mutation in androgen receptor gene
E. Ivannikova1, L. Dzeranova1, L. Kurilo2, A. Polyakov2, V. Chernykh2 & E. Pigarova1
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.