Open AccessChromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome
Author(s) -
Sudipto Konar,
Debdeep Dasgupta,
Dipak Kumar Patra,
Angshuman De,
Barindranath Mallick
Publication year - 2015
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2015/11411.5750
Subject(s) - complete androgen insensitivity syndrome , girl , inguinal hernia , karyotype , androgen insensitivity syndrome , pediatrics , medicine , chromosome analysis , fertility , malignancy , primary amenorrhea , secondary sex characteristic , male pseudohermaphroditism , androgen , gynecology , psychology , hernia , chromosome , endocrinology , pathology , surgery , biology , hormone , genetics , developmental psychology , androgen receptor , population , prostate cancer , cancer , environmental health , gene
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.