About The Medical Condition Reifensteins Syndrome
Find the definition of the medical term Reifensteins Syndrome. Reifensteins Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Reifensteins Syndrome
| Reifensteins Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Reifensteins 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.
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Births, Wrongful ‐ In civil law a cause of action which alleges that a defendant…
- Eccentroosteochondrodysplasia ‐ Genetic disorder of mucopolysaccharide metabolism characterized…
- Pseudoobstruction, Colonic ‐ Functional obstruction of…
- Manduca ‐ A genus of sphinx or hawk moths of the family Sphingidae. These…
- Allergen Challenge, Endobronchial ‐ Tests involving inhalation of allergens (nebulized or in dust…
- Hinge Exons ‐ The parts of a genetic transcript remaining after the INTRONS…
- ADP Phosphohydrolase ‐ A calcium-activated enzyme that catalyzes the hydrolysis of ATP…
- Isophosphamide ‐ Positional isomer of CYCLOPHOSPHAMIDE which is active as an alkylating…
- Permeabilities, Vascular ‐ Property of blood capillary walls that allows for the selective…
- Lymphoma, Follicular ‐ Malignant lymphoma in which the lymphomatous cells are clustered…