title: Androgen insensitivity syndrome: ten years of our experience.
abstract: Abnormalities of secondary sexual differentiation manifest in varying degrees depending upon the severity of the underlying cause. Primary amenorrhea in phenotypic females is caused by several different factors, including hormonal imbalance, nutritional deficiency and sex differentiation abnormalities. Androgen insensitivity syndrome (AIS) accounts for a large proportion of such cases in phenotypic females but genetically male individuals. Over the past 10 years, we have collected data related to androgen insensitivity from more than 150 cases. The research identified several important but neglected facts about this syndrome; including the identification of mutations in 39% of the cases and the establishment of the cause of pathogenesis in 60% of them. The most intriguing facts were uncovered in relation to late presentation of the AIS cases, little awareness among patients and family members, no consensus on the age of performing gonadectomy, and reluctance of the patients to undergo recommended surgery. These issues need immediate attention to improve healthcare and management of AIS cases. This article summarizes our observations about AIS with an aim to spread awareness among patients and clinicians.
authors.affiliation: Department of Endocrinology, Central Drug Research Institute, Division of Endocrinology, Central Drug Research Institute, Lucknow, UP, India.
authors.forename: Amudha
authors.initials: A
authors.lastname: Subramaniam
authors.forename: Rajender
authors.initials: R
authors.lastname: Singh
authors.forename: Preetha
authors.initials: P
authors.lastname: Tilak
authors.forename: Rema
authors.initials: R
authors.lastname: Devi
authors.forename: Mahalingam
authors.initials: M
authors.lastname: Kulandaivelu
authors.forename: Thangaraj
authors.initials: T
authors.lastname: Kumarasamy
mesh_terms: D000367:Age Factors; D013734:Androgen-Insensitivity Syndrome / Q000453:epidemiology* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics*; D012741:Sexual Maturation / Q000502:physiology*
chemical_list: D011944:Receptors, Androgen