adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia (CLAH)

Most severe form of congenital adrenal hyperplasia. Epidemiology: - rare disease, except in Japan & Korea where it accounts for a significant percentage of cases of congenital adrenal hyperplasia Pathology: individuals produce no adrenal or gonadal steroids Genetics: - autosomal recessive - mutations in gene for steroidogenic acute regulatory protein (StAR) - associated with defects in CYP11A1 Clinical manifestations: 1) profound adrenocortical insufficiency shortly after birth 2) hyperpigmentation reflecting increased production of pro-opiomelanocortin 3) all are phenotypic female - male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis 4) severe salt losing syndrome Laboratory: - elevated plasma renin activity as a consequence of diminished aldosterone synthesis Management: 1) fatal if not treated early 2) see adrenal insufficiency

General

congenital adrenal hyperplasia (21-hydroxlase deficiency) pseudohermaphroditism; indeterminate sex; gynandrism

Properties

DEFICIENCY: STEROIDOGENEIC-ACUTE-REGULATORY-PROTEIN

References

OMIM 201710