Disorders of sex development 46,XY, androgen insensitivity syndrome: clinical and laboratory characteristics of patients

• Sannikova Ekaterina S.

Abstract

Aim. To study clinical and laboratory characteristics of patients with disorders of sex development 46XY, androgen insensitivity syndrome.

Subjects and methods. It was included 52 patients and formed group with disorders of sex development (DSD) 46XY, androgen insensitivity syndrome. All children evaluated the structure of the external genitalia, hormonal evaluated, ultrasound examination. There was removed from 6 gonads of 3 patients with subsequent histological examination of 2 gonads.

Results. All patients were divided in two groups: with complete and partial androgen insensitivity. Patients with partial androgen insensitivity syndrome had a genital ambiguity in 100%. Patients with complete androgen insensitivity syndrome had female genitalia and the reason for the survey in 75% (3/4) was the detection of male gonads at hernia repair. Gonadal examination revealed a testis tissue with a picture of atrophy and foci of chronic inflammation, without signs of spermatogenesis.

Conclusion. The group of patients with DSD 46XY, androgen insensitivity syndrome was heterogenous in clinical picture depending on the degree of insensitivity to androgens. Untimely verification of the diagnosis requires the optimization of the patient examination algorithm.

Keywords:нарушение формирования пола, синдром нечувствительности к андрогенам, антимюллеров гормон

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