Lipoid congenital adrenal hyperplasia

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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 autosomal recessive and usually the most severe form of congenital adrenal hyperplasia. In 1865, Luigi De Crecchio, an Italian pathologist was the first who described Congenital adrenal hyperplasia. Lipoid congenital adrenal is characterized by deficiency of all adrenal hormones and increased corticotropin (ACTH) secretion. This disease is caused by gene mutation that codes a protein called steroid acute regulatory protein (StAR) and 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. Lipoid congenital adrenal hyperplasia must be differentiated from diseases with primary amenorrhea. Some of these causes include 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. 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. Symptoms can be sever hypotension due to adrenal crisis. 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. On abdominal CT scan, Lipoid congenital adrenal hyperplasia is characterized by bilateral symmetric enlargement of the adrenal glands. 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. The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.

Historical Perspective

In 1865, Luigi De Crecchio, an Italian pathologist was the first who described Congenital adrenal hyperplasia.[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.

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. Some of these causes include 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.[4][5][6][7][8][9][10][11]

Differential diagnosis for primary amenorrhea:

Disease name Cause Differentiating
Findings Uterus Breast development Testosterone LH FSH Karyotyping
3 beta-hydroxysteroid dehydrogenase deficiency

Yes in female

Yes in female

Normal

Normal

XY and XX

17-alpha-hydroxylase deficiency

No

No

Normal

Normal

XY

Gonadal dysgenesis
  • Mutations in SRY, FOG2/ZFPM2, and WNT1

Yes

Yes

XY

Testicular regression syndrome

No

No

XY

LH receptor defects

No

No

XY

5-alpha-reductase type 2 deficiency

No

No

Normal male range

High to normal

High to normal

XY

Androgen insensitivity syndrome 

No

Yes

Normal male range

Normal

Normal

XY

Mullerian agenesis

No

Yes

Normal female range

Normal

Normal

XX

Primary ovarian insufficiency

Yes

Yes

Normal female range

XX

Hypogonadotropic hypogonadism
  • Functional, sellar masses

Yes

No

Normal female range

Low

Normal

XX

Turner syndrome

Yes

Yes

Normal female range

45 XO

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.[12]

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, and 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.[13]

Surgery

The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.

References

  1. 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. PMID 25635623. doi:10.1210/en.2014-1879. 
  2. Lin D, Sugawara T, Strauss JF, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL (1995). "Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis". Science. 267 (5205): 1828–31. PMID 7892608. 
  3. Bose HS, Sugawara T, Strauss JF, Miller WL (1996). "The pathophysiology and genetics of congenital lipoid adrenal hyperplasia". N. Engl. J. Med. 335 (25): 1870–8. PMID 8948562. doi:10.1056/NEJM199612193352503. 
  4. Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C (2011). "Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients". J. Clin. Endocrinol. Metab. 96 (2): 296–307. PMID 21147889. doi:10.1210/jc.2010-1024. 
  5. Moreira AC, Leal AM, Castro M (1990). "Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 71 (1): 86–91. PMID 2164530. doi:10.1210/jcem-71-1-86. 
  6. Heremans GF, Moolenaar AJ, van Gelderen HH (1976). "Female phenotype in a male child due to 17-alpha-hydroxylase deficiency". Arch. Dis. Child. 51 (9): 721–3. PMC 1546244Freely accessible. PMID 999330. 
  7. Biglieri EG (1979). "Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome". J. Steroid Biochem. 11 (1B): 653–7. PMID 226795. 
  8. Saenger P (1996). "Turner's syndrome". N. Engl. J. Med. 335 (23): 1749–54. PMID 8929268. doi:10.1056/NEJM199612053352307. 
  9. Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R (2015). "Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis". Fertil. Steril. 103 (5): 1297–304. PMID 25813279. doi:10.1016/j.fertnstert.2015.01.043. 
  10. Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE (1974). "Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism". Science. 186 (4170): 1213–5. PMID 4432067. 
  11. Schnitzer JJ, Donahoe PK (2001). "Surgical treatment of congenital adrenal hyperplasia". Endocrinol. Metab. Clin. North Am. 30 (1): 137–54. PMID 11344932. 
  12. Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss JF (1997). "Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene". J. Clin. Invest. 99 (6): 1265–71. PMC 507941Freely accessible. PMID 9077535. doi:10.1172/JCI119284. 
  13. Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL (1985). "Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years". Clin. Endocrinol. (Oxf). 23 (5): 481–93. PMID 3841304. 



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