Lipoid congenital adrenal hyperplasia: Difference between revisions
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Lipoid congenital adrenal hyperplasia is a rare and usually the most severe form of [[congenital adrenal hyperplasia]]. | Lipoid congenital adrenal hyperplasia is a rare and usually the most severe form of [[congenital adrenal hyperplasia]]. | ||
==Historical Perspective== | ==Historical Perspective== | ||
[[Congenital adrenal hyperplasia]] was first discovered by Luigi De Crecchio, an Italian [[pathologist]] in 1865.<ref name="pmid25635623">{{cite journal |vauthors=Delle Piane L, Rinaudo PF, Miller WL |title=150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865 |journal=Endocrinology |volume=156 |issue=4 |pages=1210–7 |year=2015 |pmid=25635623 |doi=10.1210/en.2014-1879 |url=}}</ref> | |||
==Classification== | ==Classification== | ||
There is no established classification system for lipoid congenital adrenal hyperplasia. | |||
==Pathophysiology== | ==Pathophysiology== | ||
Lipoid congenital adrenal hyperplasia is an autosomal recessive disease; characterized by deficiency of all adrenal hormones and increased corticotropin (ACTH) secretion. | Lipoid congenital adrenal hyperplasia is an autosomal recessive disease; characterized by deficiency of all adrenal hormones and increased corticotropin (ACTH) secretion. | ||
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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). | 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== | ==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]], 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, [[testicular regression syndrome]], [[LH receptor|LH receptor defects]], [[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]], [[mullerian agenesis]], [[Ovarian insufficiency|primary ovarian insufficiency]], [[hypogonadotropic hypogonadism]] and [[turner syndrome]]. | 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]], 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, [[testicular regression syndrome]], [[LH receptor|LH receptor defects]], [[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]], [[mullerian agenesis]], [[Ovarian insufficiency|primary ovarian insufficiency]], [[hypogonadotropic hypogonadism]] and [[turner syndrome]]. | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
This disease is a rare disease with unknown prevalence. | This disease is a rare disease with unknown prevalence. | ||
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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 steroids synthesis impairment. | 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 steroids synthesis impairment. | ||
===Imaging Findings=== | ===Imaging Findings=== | ||
On abdominal [[CT scan]], 21-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]]. | On abdominal [[CT scan]], 21-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]]. | ||
== Treatment == | == Treatment == | ||
=== Medical Therapy === | === 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. | 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 === | === Surgery === | ||
The reconstruction surgery for [[ambiguous genitalia]] in genetically male patients may be applied.<ref name="pmid11344932">{{cite journal |vauthors=Schnitzer JJ, Donahoe PK |title=Surgical treatment of congenital adrenal hyperplasia |journal=Endocrinol. Metab. Clin. North Am. |volume=30 |issue=1 |pages=137–54 |year=2001 |pmid=11344932 |doi= |url=}}</ref> | The reconstruction surgery for [[ambiguous genitalia]] in genetically male patients may be applied.<ref name="pmid11344932">{{cite journal |vauthors=Schnitzer JJ, Donahoe PK |title=Surgical treatment of congenital adrenal hyperplasia |journal=Endocrinol. Metab. Clin. North Am. |volume=30 |issue=1 |pages=137–54 |year=2001 |pmid=11344932 |doi= |url=}}</ref> | ||
<references /> | |||
Revision as of 19:05, 10 August 2017
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
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.[1]
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, 3beta-hydroxysteroid dehydrogenase type 2 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 steroids synthesis impairment.
Imaging Findings
On abdominal CT scan, 21-hydroxylase deficiency 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.[2]
- ↑ Delle Piane L, Rinaudo PF, Miller WL (2015). "150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865". Endocrinology. 156 (4): 1210–7. doi:10.1210/en.2014-1879. PMID 25635623.
- ↑ Schnitzer JJ, Donahoe PK (2001). "Surgical treatment of congenital adrenal hyperplasia". Endocrinol. Metab. Clin. North Am. 30 (1): 137–54. PMID 11344932.