title: Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome.
abstract: 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.
authors.affiliation: Assistant Professor, Department of Anatomy, Murshidabad Medical College & Hospital , West Bengal, India .
authors.forename: Sudipto
authors.initials: S
authors.lastname: Konar
authors.affiliation: Assistant Professor, Department of Physiology, Murshidabad Medical College & Hospital , West Bengal, India .
authors.forename: Debdeep
authors.initials: D
authors.lastname: Dasgupta
authors.affiliation: Associate Professor, Department of Paediatrics, Murshidabad Medical College & Hospital , West Bengal, India .
authors.forename: Dipak Kumar
authors.initials: DK
authors.lastname: Patra
authors.affiliation: Assistant Professor, Department of Biochemistry, Murshidabad Medical College & Hospital , West Bengal, India .
authors.forename: Angshuman
authors.initials: A
authors.lastname: De
authors.affiliation: Assistant Professor, Department of Radiodiagnosis, Murshidabad Medical College & Hospital , West Bengal, India .
authors.forename: Barindranath
authors.initials: B
authors.lastname: Mallick
keywords: Gonadectomy; Karyotyping; Male pseudohermaphroditism