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| __NOTOC__ | | __NOTOC__ |
| {{17 alpha-hydroxylase deficiency}} | | {{17 alpha-hydroxylase deficiency}} |
| {{CMG}}; {{AE}} {{Ammu}} | | {{CMG}}; {{AE}} {{MJ}} |
| ==Overview== | | ==Overview== |
| Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.<ref name="BiglieriHerron1966">{{cite journal|last1=Biglieri|first1=E G|last2=Herron|first2=M A|last3=Brust|first3=N|title=17-hydroxylation deficiency in man.|journal=Journal of Clinical Investigation|volume=45|issue=12|year=1966|pages=1946–1954|issn=0021-9738|doi=10.1172/JCI105499}}</ref>Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of [[congenital adrenal hyperplasia]] resulting from a defect in the [[gene]] ''[[CYP17A1]]'', which encodes for the [[enzyme]] 17α-hydroxylase. Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is transmitted in autosomal recessive pattern. ''CYP17A1'' gene mutation is involved in the pathogenesis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. On gross pathology, thickening of the [[adrenal gland]] and cerebriform appearance are characteristic findings of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. On microscopic histopathological analysis, diffuse cortical hyperplasia and lipid-depleted cortical cells are characteristic findings of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Mutations in the ''CYP17'' gene cause congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause clinical features, such as 5-alpha-reductase deficiency and hypogonadism. If left untreated, patients with congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency may progress to develop [[malignant hypertension]]. Common complications of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include muscle weakness, [[metabolic alkalosis]], and [[azoospermia]]. Prognosis is generally good with treatment. On abdominal [[CT scan]], congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]]. The mainstay of therapy for congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is glucocorticoid therapy. The predominant therapy for ambigous genitalia in congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is surgical correction.
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| ==Historical Perspective== | | ==Historical Perspective== |
| Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American endocrinologist, in 1963-1966 following publication of a case report.<ref name="BiglieriHerron1966">{{cite journal|last1=Biglieri|first1=E G|last2=Herron|first2=M A|last3=Brust|first3=N|title=17-hydroxylation deficiency in man.|journal=Journal of Clinical Investigation|volume=45|issue=12|year=1966|pages=1946–1954|issn=0021-9738|doi=10.1172/JCI105499}}</ref>
| | 17 alpha-hydroxylase deficiency was first reported by Dr. Edward G. Biglieri, an American [[endocrinologist]], in 1963-1966 following publication of a case report. |
| | ==Classification== |
| | 17 alpha-hydroxylase deficiency may be classified into two types, based on clinical findings: partial form and severe form. |
| ==Pathophysiology== | | ==Pathophysiology== |
| Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of [[congenital adrenal hyperplasia]] resulting from a defect in the [[gene]] ''[[CYP17A1]]'', which encodes for the [[enzyme]] 17α-hydroxylase. Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is transmitted in autosomal recessive pattern. ''CYP17A1'' gene mutation is involved in the pathogenesis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. On gross pathology, thickening of the [[adrenal gland]] and cerebriform appearance are characteristic findings of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. On microscopic histopathological analysis, diffuse cortical hyperplasia and lipid-depleted cortical cells are characteristic findings of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.
| | 17 alpha-hydroxylase deficiency is an uncommon form of [[congenital adrenal hyperplasia]] resulting from a defect in the [[gene]] [[CYP17A1]], which encodes for the enzyme 17 alpha-hydroxylase and 17,20-lyase. 17 alpha-hydroxylase deficiency is transmitted in an autosomal recessive pattern. [[Mineralocorticoid excess]] and lack of [[androgens]] are two main features in this disease. |
| ==Causes== | | ==Causes== |
| Mutations in the ''[[CYP17A1]]'' gene cause congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. | | Mutations in the [[CYP17A1]] gene cause 17 alpha-hydroxylase deficiency. This gene is located on [[chromosome 10]]. |
| ==Differential Diagnosis== | | ==Differential Diagnosis== |
| Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency must be differentiated from other diseases that cause clinical features, such as 5-alpha-reductase deficiency and [[hypogonadism]].
| | 17 alpha-hydroxylase deficiency 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== | | ==Epidemiology and Demographics== |
| The incidencee of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency in the United States is approximately 1 per 100,000 individuals. Patients of all age groups may develop congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. The mean age of diagnosis is infancy and childhood.
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| ==Risk Factors== | | ==Risk Factors== |
| The most potent risk factor in the development of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is the presence of [[family history]] of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.
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| ==Screening== | | ==Screening== |
| Prenatal screening for congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency by measuring adrenal steroids in the amniotic fluid and monitoring maternal urine steroid metabolite excretion.
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| ==Natural history, Complications and Prognosis== | | ==Natural history, Complications and Prognosis== |
| If left untreated, patients with congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency may progress to develop [[malignant hypertension]]. Common complications of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include muscle weakness, [[metabolic alkalosis]], and [[azoospermia]]. Prognosis is generally good with treatment.
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| ==History and Symptoms== | | ==History and Symptoms== |
| Symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea.<ref> Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Wikipedia (2016). https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_11%CE%B2-hydroxylase_deficiency Accessed on January 29, 2016</ref>
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| ==Physical Examination== | | ==Physical Examination== |
| Patients with congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency usually appear general appearance. Physical examination of patients with congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is usually remarkable for [[gynaecomastia]], [[hypertension]], and [[sexual infantilism]].
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| ==Laboratory Findings== | | ==Laboratory Findings== |
| Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include elevated 17α-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids and decreased renin.
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| ==CT== | | ==CT== |
| On abdominal [[CT scan]], congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]].
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| ==MRI== | | ==MRI== |
| On abdominal [[MRI]], congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the [[adrenal glands]].
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| ==Echocardiography or Ultrasound== | | ==Echocardiography or Ultrasound== |
| Ultrasound may be helpful in the diagnosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.
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| ==Other Imaging Findings== | | ==Other Imaging Findings== |
| There is no other imaging studies available for the diagnosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.
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| ==Other Diagnostic Studies== | | ==Other Diagnostic Studies== |
| Immunohistochemical staining of the adrenal gland may be used for the diagnosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency and it demonstrates [[hyperplasia]], poorly defined zonation, and intermingling of the [[chromaffin]] and cortical cells.
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| ==Medical Therapy== | | ==Medical Therapy== |
| The mainstay of therapy for congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is glucocorticoid therapy.
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| ==Surgery== | | ==Surgery== |
| The predominant therapy for ambigous genitalia in congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is surgical correction.
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| ==Prevention== | | ==Prevention== |
| Prenatal diagnosis of 17 alpha-hydroxylase deficiency is conducted to prevent complication of the disease in future life and treated with prenatal dexamethasone treatment.
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| ==Reference== | | ==Reference== |
| {{Reflist}} | | {{Reflist}} |
| [[Category:Disease]]
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| [[Category:Pediatrics]]
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| [[Category:Endocrinology]]
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| [[Category:Genetic disorders]]
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| [[Category:Intersexuality]]
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