Lipoid congenital adrenal hyperplasia: Difference between revisions
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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]].<ref name="pmid9077535">{{cite journal |vauthors=Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss JF |title=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 |journal=J. Clin. Invest. |volume=99 |issue=6 |pages=1265–71 |year=1997 |pmid=9077535 |pmc=507941 |doi=10.1172/JCI119284 |url=}}</ref> | 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]].<ref name="pmid9077535">{{cite journal |vauthors=Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss JF |title=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 |journal=J. Clin. Invest. |volume=99 |issue=6 |pages=1265–71 |year=1997 |pmid=9077535 |pmc=507941 |doi=10.1172/JCI119284 |url=}}</ref> | ||
=== Physical Examination === | === Physical Examination === | ||
Physical examination is remarkable for hypotension and primary amenorrhea (due to lack of androgen in male infants). | Physical examination is remarkable for [[hypotension]] and [[primary amenorrhea]] (due to lack of [[androgen]] in male infants). | ||
=== Laboratory Findings === | === 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 | 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=== | ===Imaging Findings=== | ||
On abdominal [[CT scan]], | On abdominal [[CT scan]], Lipoid congenital adrenal hyperplasia 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.<ref name="pmid3841304">{{cite journal |vauthors=Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL |title=Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years |journal=Clin. Endocrinol. (Oxf) |volume=23 |issue=5 |pages=481–93 |year=1985 |pmid=3841304 |doi= |url=}}</ref> | 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.<ref name="pmid3841304">{{cite journal |vauthors=Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL |title=Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years |journal=Clin. Endocrinol. (Oxf) |volume=23 |issue=5 |pages=481–93 |year=1985 |pmid=3841304 |doi= |url=}}</ref> | ||
=== Surgery === | === Surgery === | ||
The reconstruction surgery for [[ambiguous genitalia]] in genetically male patients may be applied. | The reconstruction surgery for [[ambiguous genitalia]] in genetically male patients may be applied. | ||
Revision as of 19:26, 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, 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.[1][2]
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.[3][4][5][6][7][8][9][10]
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.[11]
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.[12]
Surgery
The reconstruction surgery for ambiguous genitalia in genetically male patients may be applied.
References
- ↑ 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.
- ↑ 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. doi:10.1056/NEJM199612193352503. PMID 8948562.
- ↑ 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. doi:10.1210/jc.2010-1024. PMID 21147889.
- ↑ 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. doi:10.1210/jcem-71-1-86. PMID 2164530.
- ↑ 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 1546244. PMID 999330.
- ↑ 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.
- ↑ Saenger P (1996). "Turner's syndrome". N. Engl. J. Med. 335 (23): 1749–54. doi:10.1056/NEJM199612053352307. PMID 8929268.
- ↑ 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. doi:10.1016/j.fertnstert.2015.01.043. PMID 25813279.
- ↑ 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.
- ↑ Schnitzer JJ, Donahoe PK (2001). "Surgical treatment of congenital adrenal hyperplasia". Endocrinol. Metab. Clin. North Am. 30 (1): 137–54. PMID 11344932.
- ↑ 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. doi:10.1172/JCI119284. PMC 507941. PMID 9077535.
- ↑ 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.