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COMPLETE ANDROGEN INSENSITIVITY SYNDROME (CAIS)- AN UNUSUAL PRESENTATION

Journal: University Journal of Surgery and Surgical Specialities (Vol.3, No. 1)

Publication Date:

Authors : ;

Page : 63-67

Keywords : :CAIS; primary amenorrhoea; karyotype; thelarche; low testosterone.;

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Abstract

Complete androgen insensitivity syndrome is characterized by normal female appearance,including external genitalia in the presence of 46 XY karyotype. CAIS is a rare disorder, the incidence is about 1 in 20000 live male births. We report a case of 20 years old female with history of primary amenorrhoea with feminine appearance, absent secondary sexual characters, blind ending vagina, with 46XY karyotype. Imaging studies of the abdomen revealed absent uterus and ovary. Hormonal study revealed elevated FSH and LH and low testosterone levels. A diagnosis of complete androgen insensitivity syndrome was made.Breasts are usually well developed and testosterone levels are elevated in CAIS. Unusual in our case was absence of breast development and low testosterone levels. At 6 years of age, the girl was operated for inguinal swelling, which could have been gonadectomy. This gonadectomy would explain the absence of secondary sexual characters and low testosterone levels in this case. Adequate counseling for future rearing was given to the girl and her parents.

Last modified: 2017-02-27 16:19:58