THREE SIBLINGS WITH ANDROGEN INSENSITIVITY SYNDROME
Genetic, gonadal, phenotypic and psychological gender(sex) are the basis for gender assignment to an individual. Derangement in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors will lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome (AIS) is one of the common causes of genital ambiguity and intersex. In this case report we have presented three girls from a family of seven children visited Tikur Anbassa Specialized Hospital (TASH) with a complaint of primary amenorrhea and diagnosed to have AIS. Their clinical presentation, relevant laboratory and histo-pathologic findings, karyotype and genetic analysis results are summarized. Potential causes and treatment options are discussed.
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