Search on: ADRENAL HYPERPLASIA, CONGENITAL 
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Descriptor English:   Adrenal Hyperplasia, Congenital 
Descriptor Spanish:   Hiperplasia Suprarrenal Congénita 
Descriptor Portuguese:   Hiperplasia Suprarrenal Congênita 
Tree Number:   C12.706.316.129.500
C13.351.875.253.129.500
C16.131.939.316.129.500
C16.320.033
C16.320.565.925.249
C18.452.648.925.249
C19.053.440
C19.391.119.129.500
Definition English:   A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. 
See Related English:   3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Puberty, Precocious
Steroid 11-beta-Hydroxylase
Steroid 17-alpha-Hydroxylase
Steroid 21-Hydroxylase
Virilism
 
History Note English:   80; was ADRENOGENITAL SYNDROME 1963-79 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   315 
Unique Identifier:   D000312 

Occurrence in VHL:
 

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