Lipoid congenital adrenal hyperplasia
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Synonyms and keywords: Congenital lipoid adrenal hyperplasia, Congenital lipoid adrenal hyperplasia due to STAR deficiency, CLAH.
Overview
Lipoid congenital adrenal hyperplasia is a rare and usually the most severe form of congenital adrenal hyperplasia.
Historical Perspective
Congenital adrenal hyperplasia was first discovered by Luigi De Crecchio, an Italian pathologist in 1865.
Classification
There is no established classification system for lipoid congenital adrenal hyperplasia.
Pathophysiology
Lipoid congenital adrenal hyperplasia is an autosomal recessive disease; characterized by deficiency of all adrenal hormones and increased corticotropin (ACTH) secretion.
- This disease is caused by gene mutation on chromosome 8. This gene mutation codes for a protein called steroid acute regulatory protein (StAR). StAR protein helps cholesterol transport from the outer to the inner mitochondrial membrane.
- On microscopic histopathological analysis, progressive accumulation of cholesterol esters are characteristic findings of lipoid congenital adrenal hyperplasia.
Causes
Lipoid congenital adrenal hyperplasia is caused by gene mutation which on chromosome 8. This gene mutation codes for a protein called steroid acute regulatory protein (StAR).
Differentiating congenital lipoid adrenal hyperplasia from other Diseases
Lipoid congenital adrenal hyperplasia must be differentiated from diseases with primary amenorrhea and female external genitalia. Some of these causes include Pregnancy, androgen insensitivity syndrome, 3 beta-hydroxysteroid dehydrogenase deficiency, 17 alpha-hydroxylase deficiency, gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, mullerian agenesis, primary ovarian insufficiency, hypogonadotropic hypogonadism and turner syndrome.
Epidemiology and Demographics
This disease is a rare disease with unknown prevalence.
Diagnosis
Symptoms
Symptoms can be sever hypotension due to adrenal crisis. Because of lack of androgen production male infants usually have female external genitalia, presenting with primary amenorrhea. Female infants have normal genitalia normally developed at birth and occasional patients undergo spontaneous puberty.
Physical Examination
Physical examination is remarkable for hypotension and primary amenorrhea (due to lack of androgen in male infants).
Laboratory Findings
Laboratory findings in lipoid congenital adrenal hyperplasia are: low cortisol levels, low aldosterone levels, high plasma ACTH concentrations and high plasma renin activity. High serum gonadotropin levels are seen due to gonadal steroid synthesis impairment.
Imaging Findings
On abdominal CT scan, lipoid congenital adrenal hyperplasia is characterized by bilateral symmetric enlargement of the adrenal glands.
Treatment
Medical Therapy
Lipoid congenital adrenal hyperplasia is fatal in infancy period in two-thirds of reported patients. Replacement therapy with glucocorticoids and mineralocorticoids has been reported in a few cases.
Surgery
The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.