11β-hydroxylase deficiency overview: Difference between revisions
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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency may be classified according to clinical presentation into 2 subtypes: classic form and the non-classic form. | Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency may be classified according to clinical presentation into 2 subtypes: classic form and the non-classic form. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency arises due to a defect in the [[gene]] encoding the [[enzyme]] [[steroid 11β-hydroxylase]] which mediates the final step of [[cortisol]] synthesis in the [[adrenal gland|adrenal]]. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is transmitted in autosomal recessive pattern. On gross pathology, thickening of adrenal gland and cerebriform appearance are characteristic findings of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. On microscopic histopathological analysis, diffuse cortical hyperplasia and lipid depleted cortical cells are characteristic findings of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. | |||
==Causes== | ==Causes== | ||
Mutations in the CYP11B1 gene cause Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. | |||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency must be differentiated from other diseases that cause clinical features, such as adrenal crisis, conn syndrome, gastric outlet obstruction, congenital adrenal hyperplasia due to 17-hydroxylase deficiency, congenital adrenal hyperplasia due to 21-hydroxylase deficiency, hypertension, hypokalemia, hypomagnesemia, infertility, polycystic ovarian syndrome, malignant hypertension, Stein-Leventhal syndrome, and viral gastroenteritis. | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The prevalence of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is approximately 1 per 100,000 individuals United States. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency affects male and female equally. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually affects individuals of the Jewish race. | |||
==Risk Factors== | ==Risk Factors== | ||
The most potent risk factor in the development of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is presence of [[family history]] of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. | |||
==Screening== | ==Screening== | ||
Prenatal screening for congenital adrenal hyperplasia due to 11β-hydroxylase deficiency by injection a dose of 11-deoxycortisol into the amniotic fluid is recommended among patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. | |||
==Natural history, Complications and Prognosis== | ==Natural history, Complications and Prognosis== | ||
If left untreated, patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency may progress to develop malignant hypertension. Common complications of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include muscle weakness, metabolic alkalosis, and azoospermia. Prognosis is generally good with treatment. | |||
==History and Symptoms== | ==History and Symptoms== | ||
Symptoms of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include acne, oligomenorrhea, and aggressive behavior. | |||
==Physical Examination== | ==Physical Examination== | ||
Patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is usually remarkable for gynaecomastia, hyperpigmentation, hypertension and ambigous genitalia. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include elevated 17α-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids and decreased renin. | |||
==CT== | ==CT== | ||
On abdominal [[CT scan]], congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]]. | |||
==MRI== | ==MRI== | ||
On abdominal [[MRI]], congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]]. | |||
==Echocardiography or Ultrasound== | ==Echocardiography or Ultrasound== | ||
Ultrasound may be helpful in the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Findings on Ultrasound suggestive of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include testicular masses, adnexal structures, and gonadal abnormalities. | |||
==Other Imaging Findings== | ==Other Imaging Findings== | ||
Immunohistochemical staining of the adrenal-gland may be used for the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency and it demonstrates [[hyperplasia]], poorly defined zonation, and intermingling of the [[chromaffin]] and cortical cells. | |||
==Other Diagnostic Studies== | ==Other Diagnostic Studies== | ||
Immunohistochemical staining of the adrenal-gland may be used for the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency and it demonstrates [[hyperplasia]], poorly defined zonation, and intermingling of the [[chromaffin]] and cortical cells. | |||
==Medical Therapy== | ==Medical Therapy== | ||
The mainstay of therapy for congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is glucocorticoid therapy. | |||
==Surgery== | ==Surgery== | ||
The predominant therapy for ambigous genitalia in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is surgical correction. | |||
== | ==Prevention== | ||
Prenatal diagnosis of 11-beta-hydroxylase deficiency is conducted to prevent complication of the disease in future life and treated with prenatal dexamethasone treatment. | |||
==Reference== | ==Reference== | ||
{{Reflist}} | {{Reflist}} | ||
[[Category:Hereditary cancers]] | [[Category:Hereditary cancers]] | ||
Revision as of 21:00, 28 January 2016
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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Historical Perspective
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency was first described by Dr. Walter Eberlein and Dr. Alfred M. Bongiovanni, American physicians, in 1956 based on the study they conducted on accumulated steroids.[1] In 1999, White was the first to discover the association between homozygous mutation in the CYP11B1 gene and development of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.[2]
Classification
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency may be classified according to clinical presentation into 2 subtypes: classic form and the non-classic form.
Pathophysiology
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency arises due to a defect in the gene encoding the enzyme steroid 11β-hydroxylase which mediates the final step of cortisol synthesis in the adrenal. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is transmitted in autosomal recessive pattern. On gross pathology, thickening of adrenal gland and cerebriform appearance are characteristic findings of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. On microscopic histopathological analysis, diffuse cortical hyperplasia and lipid depleted cortical cells are characteristic findings of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Causes
Mutations in the CYP11B1 gene cause Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Differential Diagnosis
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency must be differentiated from other diseases that cause clinical features, such as adrenal crisis, conn syndrome, gastric outlet obstruction, congenital adrenal hyperplasia due to 17-hydroxylase deficiency, congenital adrenal hyperplasia due to 21-hydroxylase deficiency, hypertension, hypokalemia, hypomagnesemia, infertility, polycystic ovarian syndrome, malignant hypertension, Stein-Leventhal syndrome, and viral gastroenteritis.
Epidemiology and Demographics
The prevalence of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is approximately 1 per 100,000 individuals United States. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency affects male and female equally. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually affects individuals of the Jewish race.
Risk Factors
The most potent risk factor in the development of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is presence of family history of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Screening
Prenatal screening for congenital adrenal hyperplasia due to 11β-hydroxylase deficiency by injection a dose of 11-deoxycortisol into the amniotic fluid is recommended among patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Natural history, Complications and Prognosis
If left untreated, patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency may progress to develop malignant hypertension. Common complications of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include muscle weakness, metabolic alkalosis, and azoospermia. Prognosis is generally good with treatment.
History and Symptoms
Symptoms of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include acne, oligomenorrhea, and aggressive behavior.
Physical Examination
Patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency usually appear healthy. Physical examination of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is usually remarkable for gynaecomastia, hyperpigmentation, hypertension and ambigous genitalia.
Laboratory Findings
Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include elevated 17α-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids and decreased renin.
CT
On abdominal CT scan, congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the adrenal glands.
MRI
On abdominal MRI, congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the adrenal glands.
Echocardiography or Ultrasound
Ultrasound may be helpful in the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Findings on Ultrasound suggestive of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency include testicular masses, adnexal structures, and gonadal abnormalities.
Other Imaging Findings
Immunohistochemical staining of the adrenal-gland may be used for the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency and it demonstrates hyperplasia, poorly defined zonation, and intermingling of the chromaffin and cortical cells.
Other Diagnostic Studies
Immunohistochemical staining of the adrenal-gland may be used for the diagnosis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency and it demonstrates hyperplasia, poorly defined zonation, and intermingling of the chromaffin and cortical cells.
Medical Therapy
The mainstay of therapy for congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is glucocorticoid therapy.
Surgery
The predominant therapy for ambigous genitalia in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is surgical correction.
Prevention
Prenatal diagnosis of 11-beta-hydroxylase deficiency is conducted to prevent complication of the disease in future life and treated with prenatal dexamethasone treatment.
Reference
- ↑ BONGIOVANNI AM, EBERLEIN WR (1956). "Plasma and urinary corticosteroids in the hypertensive form of congenital adrenal hyperplasia". J Biol Chem. 223 (1): 85–94. PMID 13376579.
- ↑ White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rösler A (1991). "A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin". J Clin Invest. 87 (5): 1664–7. doi:10.1172/JCI115182. PMC 295260. PMID 2022736.