Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1064 | Male Reproduction | ICEECE2012

Mild androgen insensitivity syndrome due to novel mutation in androgen receptor gene

Ivannikova E. , Dzeranova L. , Kurilo L. , Polyakov A. , Chernykh V. , Pigarova E.

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 androg...