Genetic analysis of a family with complete androgen insensitivity syndrome.
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Date
2013-07
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Abstract
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.
Description
Keywords
Androgen insensitivity, androgen receptor, ligand‑binding domain, mutation
Citation
Kumar Kota Sunil, Gayatri Kotni, Kota Siva Krishna, Jammula Sruti. Genetic analysis of a family with complete androgen insensitivity syndrome. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 355-357.