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PARTIAL ANDROGEN INSENSITIVITY SYNDROME IN A PATIENT REARED AS FEMALE WITH AMBIGUOUS GENITALIA: A CASE REPORT AND MINI-REVIEW

Open Access

Journal Type:Case Report

Subject:Medicine, Health & Food

Subject Field:Genetics and Genomics

Volume:99, Issue: 1, April, 2022

Publish Date:April 18, 2022 8:00 pm

Pages:42-45

Download:619

Views:818

Abstract

Partial androgen insensitivity syndrome (PAIS) or Reifenstein Syndrome is a rare disorder. This disorder has a clinical feature that varies depending on the level of mutation of the androgen receptor gene. An understanding of psychosexual development, genital appearance, and fertility expectations of patients is a consideration for further treatment. PAIS generally present with the chief complaint of ambiguous genitalia, small penis, hypospadias, undescended testicles, or cryptorchidism. A twenty-seven-year-old patient presented in the Andrology Outpatient Department with the complaint of wanting to confirm his genitalia. The patient's father and mother are not related. His parents saw the external genitalia as a female and were raised as female. Meanwhile, entering the age of 17 years, the patient realized that a structure like a penis shaft began to appear in the genital area. From a psychological perspective, it is necessary to consider counseling and assistance for one year so that patients can make decisions. This case report concludes that PAIS management requires multidisciplinary cooperation by considering the patient's physical, psychosexual and fertility development.

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