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syndróm androgénnej insenzitivity
Č. záznamu d013734 Dátum 06.06.2025 Typ M - MESH Tematický termín syndróm androgénnej insenzitivity Iný termín Angličtina (Pseudonym) Testicular Feminization
Slovenčina (Pseudonym) syndróm necitlivosti na androgény
Slovenčina (Pseudonym) feminizácia testikulárna
MDT C12.050.351.875.253.096.500C12.200.706.316.096.500C12.800.316.096.500C16.131.939.316.096.500C16.320.322.061C19.391.119.096.500 Poznámka A disorder of sexual development 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) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY. predmetové heslo
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