17 alpha-hydroxylase deficiency (patient information)
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Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency |
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Template:WikiDoc Sources
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
For the WikiDoc page for this topic, click here.
Overview
Symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea.[1] Mutations in the CYP17 gene cause congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. 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. 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.
What are the symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?
Symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea.[2]
What causes congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?
Mutations in the CYP17 gene cause congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Who is at highest risk?
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.
Diagnosis
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.
When to seek urgent medical care?
A person should seek urgent medical care when there are any complications that arise from congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency such as hypertension.
Treatment options
The mainstay of therapy for congenital adrenal hyperplasia due to 17 alpha-hydroxylase is glucocorticoid therapy.
Where to find medical care for congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?
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.
What to expect (Outlook/Prognosis)?
The prognosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is generally good with treatment.[3]
Possible complications
- Vascular hemorrhage
- Renal insufficiency
- Left ventricular hypertrophy
- Hypertensive retinopathy
- Stroke
Reference
- ↑ 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
- ↑ 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
- ↑ https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency URL Accessed on 10/15/2015