Introduction: Mutations in AR gene results in androgen insensitivity syndrome and is broadly categorised as- Partial androgen insensitivity (PAIS), mild androgen insensitivity (MAIS) and complete androgen insensitivity (CAIS). We present a 19 year old patient. She had gonadectomy done at 6 years of age. Therefore endocrine (hormonal profile) evaluation now could not be used to make a definitive diagnosis. Molecular analysis of AR gene revealed a novel mutation in the patient. Case Presentation: A child with female phenotype, presented with bilateral inguinal hernia at the age of 5 years. She was born full term at home and is the elder of the two siblings. Clinical examination revealed bilateral descended testes in the labial folds and separate urethral and vaginal opening. Hormonal profile at 5 years of age revealed LH, FSH, Testosterone and Estradiol to be within normal limits. She had gonadectomy done at 6 years of age. Psychological assessment of the patient revealed female gender identity which is concordant with her sex of rearing. WHO questionnaire indicated medium quality of life. Molecular analysis of SRD5A2 gene showed a normal sequence. A novel mutation of p.T105R in exon 1 of AR gene confirmed the diagnosis of AIS. Conclusion: We describe for the first time a missense novel mutation of p.T105R in exon 1 of AR gene. The definitive diagnosis of this patient was confirmed by molecular analysis.
Androgen-Insensitivity Syndrome, Androgen Receptor gene, Gender Identity, N-terminal domain