17 alpha-hydroxylase deficiency (patient information): Difference between revisions
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==What are the symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?== | ==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.<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> | |||
==What causes congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?== | ==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?== | ==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== | ==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?== | ==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== | ==Treatment options== | ||
==Where to find medical care for congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?== | ==Where to find medical care for congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?== | ||
[http://maps.google.com/maps?q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|map+top+hospital+Multiple endocrine neoplasia type 1}}}}&oe=utf-8&rls=org.mozilla:en-US:official&client=firefox-a&um=1&ie=UTF-8&sa=N&hl=en&tab=wl Directions to Hospitals Treating Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency] | [http://maps.google.com/maps?q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|map+top+hospital+Multiple endocrine neoplasia type 1}}}}&oe=utf-8&rls=org.mozilla:en-US:official&client=firefox-a&um=1&ie=UTF-8&sa=N&hl=en&tab=wl Directions to Hospitals Treating Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency] | ||
==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. | |||
==What to expect (Outlook/Prognosis)?== | ==What to expect (Outlook/Prognosis)?== | ||
The prognosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is generally good with treatment.<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency URL Accessed on 10/15/2015 </ref> | The prognosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is generally good with treatment.<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency URL Accessed on 10/15/2015 </ref> | ||
==Possible complications== | ==Possible complications== | ||
* Vascular hemorrhage | |||
* [[Renal insufficiency]] | |||
* [[Left ventricular hypertrophy]] | |||
* [[Hypertensive retinopathy]] | |||
* [[Stroke]] | |||
==Reference== | ==Reference== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 21:45, 4 February 2016
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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
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.[1]
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
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.[2]
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
- ↑ https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency URL Accessed on 10/15/2015