Androgen insensitivity syndrome
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چکیده
Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens (androgenic hormones) that stimulate or control the development and maintenance of male physiological characteristics by binding to androgen receptors. The unresponsiveness of the cell to the presence of androgenic hormones can impair, or prevent, both the masculinization of male genitalia in the developing fetus, and the development of male secondary sexual characteristics at puberty, though it does not significantly impair the development of female genital or sexual characteristics in females and males with the condition. As such, androgen insensitivity syndrome is of clinical significance only when it occurs in individuals that are genetically male (that is, persons with a Y-chromosome, or more specifically, an SRY gene).
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Partial Androgen Insensitivity Syndrome: A rare disease
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 predomin...
متن کاملGenotype versus phenotype in families with androgen insensitivity syndrome.
Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitivity syndrome is important for sex assignment, treatment of androgen insensitivity syndrome patients, genetic counseling of their families, and insight into the functional domains...
متن کاملA large seminoma occurring 20 years after diagnosis of complete androgen insensitivity syndrome: A case report☆
•A seminoma developed in a patient with androgen insensitivity syndrome.•The patient had a de novo androgen receptor mutation.•Proper management of AIS, including appropriate genetic counseling, is necessary.
متن کاملSquamous cell carcinoma of the vulva in a patient with androgen insensitivity syndrome.
The complete form of androgen insensitivity syndrome (testicular feminization) occurs in a 46,XY karyotype with a mutant X-linked recessive gene that is responsible for the androgen intracellular receptor [l]. An individual with androgen insensitivity syndrome is a male pseudohermaphrodite. Phenotypic characterizations include scanty or absent axillary and pubic hair, slight vulvar hair, a rudi...
متن کاملLaparoscopic gonadectomy in complete androgen insensitivity syndrome.
Laparoscopic orchiectomy was performed in a 16-year-old patient with complete androgen insensitivity syndrome. Pathology revealed in situ carcinoma of the seminiferous tubules.
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