About The Medical Condition Reifenstein Syndrome
Find the definition of the medical term Reifenstein Syndrome. Reifenstein Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Reifenstein Syndrome
| Reifenstein Syndrome Medical Condition |
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What's The Definition Of The Medical Condition Reifenstein Syndrome?
A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN; AR) gene. Severity of the defect in AR quantity or quality correlates with their phenotypes. The phenotype spectrum varies from those with normal female external genitalia in ANDROGEN-INSENSITIVITY SYNDROME, through those with genital ambiguity in Reifenstein Syndrome, to that of a normal male with INFERTILITY.
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