Partial Androgen Insensitivity Syndrome: A rare disease
نویسندگان
چکیده
Androgen insensitivity syndrome is a rare disease, manifested as normal female external phenotype to infertile male with 46 XY karyotype due to different level of resistance of androgen receptor. Androgen insensitivy syndrome is classified as complete, partial and mild androgen insensitivity. Partial androgen insensitivity syndrome is further subclassified according to morphogenesis as predominant female phenotype, ambiguous genitalia and predominant male phenotype. Partial androgen insensitivity syndrome usually presents in early month of life but this can present rarely at puberty with primary amenorrhea as complete androgen insensitivity syndrome. Our case is predominantly female phenotype partial androgen insensitivity and presented with primary amenorrhea.
منابع مشابه
Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review.
Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X-linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often ...
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