Indian Journal of Human Genetics
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CASE REPORT
Year : 2013  |  Volume : 19  |  Issue : 3  |  Page : 355-357

Genetic analysis of a family with complete androgen insensitivity syndrome


1 Department of Endocrinology, Medwin Hospital, Hyderabad, Andhra Pradesh, India
2 Department of Obstetrics and Gynecology, Riyadh Care Hospital, Riyadh, Saudi Arabia
3 Department of Anaesthesia, Central Security Hospital, Riyadh, Saudi Arabia
4 Department of Pharmaceuties, Roland Institute of Pharmaceutical Sciences, Berhampur, Orissa, India

Correspondence Address:
Sunil Kumar Kota
Department of Endocrinology, Medwin Hospitals, Chiragh Ali Lane, Nambally, Hyderabad - 500 001, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.120820

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Androgen insensitivity causes impaired embryonic sex differentiation leading to developmental failure of normal male external genitalia in 46 XY genetic men. It results from diminished or absent biological actions of androgens, which is mediated by the androgen receptor (AR) in both the embryo and secondary sexual development. Mutations in the AR located on the X chromosome are responsible for the disease. Almost 70% of affected individuals inherit the mutation from their carrier mother. We hereby report a 10-year-old girl with all the characteristics of complete androgen insensitivity syndrome (CAIS). Similar scenario was observed in 3 maternal aunts, Sequencing of the AR gene in all the family members revealed C 2754 to T transition in exon 6. It was concluded that the C 2754 to T transition rendered the AR incapable of both ligand-binding and activating the transcription and was the cause of CAIS in the patient.


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