Androgen Insensitivity Syndrome: A Case Report
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Date
2022-06
Journal Title
Journal ISSN
Volume Title
Publisher
IMD Research Publications
Abstract
Background: Androgen insensitivity syndrome refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cells in how to use it. This is a genetic disorder that makes XY foetuses insensitive (unresponsive) to androgens, they are born looking externally like normal girls and Internally, there is a short blind pouch vagina and no uterus, fallopian tube or ovaries. There are testes in the abdomen or in the inguinal canal. The CAIS is usually detected at puberty when a girl should but does not begin to menstruate. They are at high risk of osteoporosis so should take oestrogen replacement therapy. Case Report: PAIS results in micropenis with hypospadias and gynaecomastia. We report this rare case of 18yr old female patient with primary amenorrhea. Subsequent investigation including karyotyping revealed that the patient is phenotypically female but genotypically male with testes. Gonadectomy was done with proper counselling and patient was put on hormonal replacement replacement therapy.
Description
Keywords
Androgen insensitivity, Primary amenorrhea, Pseudohermaphroditism.
Citation
B N Shruthi, Venkatesh Vivikta, D R Vishnu Sri Manoj, D Bharathi, A V Angadi, Saheb Shaik Hussain. Androgen Insensitivity Syndrome: A Case Report. International Journal of Anatomy and Research. 2022 Jun; 10(2): 8381-8384