Complete androgen insensitivity syndrome: clinical and anatomopathological findings in 23 patients

Complete Androgen Insensitivity Syndrome (CAIS) is a type of Male Pseudohermaphroditism due to a defect in the androgen receptor which is a DNA-binding, transcription-regulating protein whose properties are induced on androgen binding. This defect is caused by mutations of a gene localized in Xq11-12. The objective of this study is the description of the clinical and pathological features of patients with female phenotype, karyotype 46, XY and diagnosis of CAIS. They were referred to Medical Genetic Unit of University of Zulia, Maracaibo, Venezuela, between 1971-1995. The diagnostic criteria and clinical and pathological findings are reviewed. Twenty-three patients fulfilled the diagnostic criteria. Most of patients were 13 years old or older (postpuberal). The main reasons for consultation were: primary amenorrhea, inguinal hernia, familial history of CAIS and fusion of labia minora. Seventeen patients from 5 families were diagnosed with CAIS and only one per family in 6 families. All patients showed a female general phenotype with unambiguously female external genitalia. Gonadal localization (right/left) was as follows: abdominal/abdominal: 65%; abdominal/inguinal: 26%; inguinal/abdominal: 9%. Histologic features of gonads were similar to those in cryptorchid testes of otherwise normal males. There was no evidence of development of gonadal neoplasia. The patients reported here provide a remarkable opportunity to study the molecular genetic characterization that can serve as a primary tool for diagnosis and subsequent therapy.