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Abstract

ANDROGEN INSENSITIVITY SYNDROME

Aleena Manoj, Martin Baby John, Rosenna Francis and Dr. Jeethu Joby*

ABSTRACT

Androgen insensitivity syndrome (AIS) is the most frequency cause of 46 XY disorder in sex development (DSD). The pathogenesis of AIS is characterized by resistance to androgens due to dysfunction of the androgen receptor (AR). The degree of insensitivity to androgens underlies the mode of clinical presentation. Thus, the complete form [complete androgen insensitivity syndrome (CAIS)] is characterized by a female phenotype with an XY karyotype and normal-functioning testes with respect to androgen production. The partial form [partial androgen insensitivity syndrome (PAIS)] presents a wider phenotype, ranging from severe undermasculinization manifest mainly as female appearing external genitalia to a male with severe hypospadias and perhaps micropenis. A mild form [mild androgen insensitivity syndrome (MAIS)] is also recognized phenotypically as a male with normal development but presenting later with gynaecomastia and infertility. Management of DSD, in general, requires a multidisciplinary approach from diagnosis in infancy to adulthood. The key members of the team include specialists in endocrinology, urology, gynecology and clinical psychology. The diagnosis is confirmed by determining the exact mutation in the AR gene. The treatment of AIS is based on reinforcement sexual identity, gonadectomy planning, and hormone replacement therapy. The prognosis for CAIS is good if the testicular tissue is removed at the appropriate time. For PAIS, the prognosis depends on the ambiguity of the genitalia and physical and psychosocial adjustment to the assigned sex.

Keywords: Androgen insensitivity syndrome, CAIS, PAIS, MAIS.


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