Disease_Mapped_To_Gene
HSD3B2 Gene
Pediatric Endocrinology Terminology
3-Beta-Hydroxysteroid Dehydrogenase Deficiency
3-Beta-Hydroxysteroid Dehydrogenase Deficiency
3-Beta-Hydroxysteroid Dehydrogenase Deficiency
3-beta HSD Deficiency
C131088
C2931782
Congenital adrenal hyperplasia due to presumed mutation(s) in the HSD3B2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,XY infants may have incomplete development of the genitalia, while 46,XX infants may have virilization.
Congenital adrenal hyperplasia due to presumed mutation(s) in the HSD3B2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,XY infants may have incomplete development of the genitalia, while 46,XX infants may have virilization.
Disease or Syndrome
NICHD
Non-Neoplastic Endocrine Disorder
NICHD Terminology