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X-linked adrenal hypoplasia congenital
Genetics:
- X-linked
- associated with defects in NR0B1
Pathology:
- developmental disorder of the adrenal gland
- absence of permanent zone of the adrenal cortex & by a structural disorganization of the glands.
Clinical manifestations:
- profound hormonal deficiencies
- hypogonadotropic hypogonadism frequently associated
a) abnormally decreased gonadal function
b) retardation of growth & sexual development
Complications: lethal if untreated
Management:
- see primary adrenal failure
General
Addison's disease (primary adrenal failure)
X-linked disease
genetic disease of the endocrine system
congenital anomaly (birth defect)
Database Correlations
OMIM 300200
References
OMIM :accession 300200