Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity SyndromeCorrespondence Address :
Dr. Sudipto Konar,
346, Officers Colony, PO: Sripally, Burdwan, West Bengal. PIN-713103, India.
The sufferers of complete androgen insensitivity syndrome (CAIS) are phenotypic females despite of having functional testes and normal male karyotype. They usually present late with primary amenorrhea but delayed diagnosis increases chance of gonadal malignancy. Alertness for this entity is crucial as with early diagnosis such disorder can be managed more appropriately for a better future. We hereby describe a case of CAIS in an 8-year-old girl presented with bilateral inguinal swellings. Endocrinological analysis, radiological investigations and cytogenetic studies were done. Investigations revealed absence of female internal genitalia. Karyotyping and molecular study confirmed the presence of Y chromosome. Parents were counseled regarding timely gonadectomy, fertility and other long term social issues.
Gonadectomy, Karyotyping, Male pseudohermaphroditism
Sudipto Konar, Debdeep Dasgupta, Dipak Kumar Patra, Angshuman DE, Barindranath Mallick. CHROMOSOMAL STUDY IS MUST FOR PREPUBERTAL GIRL WITH INGUINAL HERNIA: OPPORTUNITY TO DIAGNOSE COMPLETE ANDROGEN INSENSITIVITY SYNDROME. Journal of Clinical and Diagnostic Research [serial online] 2015 April [cited: 2019 Aug 23 ]; 9:GD01-GD03. Available from
Date of Submission: Sep 29, 2014
Date of Peer Review: Dec 22, 2014
Date of Acceptance: Feb 16, 2015
Date of Publishing: Apr 01, 2015
Financial OR OTHER COMPETING INTERESTS: None.
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