17 alpha-hydroxylase deficiency overview
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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
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.[1]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 11β-hydroxylase deficiency is glucocorticoid therapy. The predominant therapy for ambigous genitalia in congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is surgical correction.
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.[1]
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.
Causes
Mutations in the CYP17 gene cause congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.
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.
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.
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.
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.
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.
History and Symptoms
Symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea.[2]
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.
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.
CT
On abdominal CT scan, congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the adrenal glands.
MRI
On abdominal MRI, congenital adrenal hyperplasia due to 17 alpha-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 17 alpha-hydroxylase deficiency.
Other Imaging Findings
There is no other imaging studies available for the diagnosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.
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.
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 17 alpha-hydroxylase deficiency is surgical correction.
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.
Reference
- ↑ 1.0 1.1 Biglieri, E G; Herron, M A; Brust, N (1966). "17-hydroxylation deficiency in man". Journal of Clinical Investigation. 45 (12): 1946–1954. doi:10.1172/JCI105499. ISSN 0021-9738.
- ↑ 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