17 alpha-hydroxylase deficiency (patient information): Difference between revisions
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'''For the WikiDoc page for this topic, click [[ | '''For the WikiDoc page for this topic, click [[17 alpha-hydroxylase deficiency |here]].''' | ||
{{17 alpha-hydroxylase deficiency (patient information)}} | |||
{{CMG}}; '''Associate Editor(s)-In-Chief:''' {{MJ}} | |||
==Overview== | ==Overview== | ||
Symptoms of 17 alpha-hydroxylase deficiency include [[delayed puberty]] and [[primary amenorrhea]]. Mutations in the [[CYP17A1|CYP17]] gene cause 17 alpha-hydroxylase deficiency. The most potent risk factor in the development of 17 alpha-hydroxylase deficiency is the presence of [[family history]] of 17 alpha-hydroxylase deficiency. Laboratory findings consistent with the diagnosis of 17 alpha-hydroxylase deficiency include elevated [[17-hydroxyprogesterone|17α-hydroxyprogesterone]], elevated [[androstenedione]], elevated urinary 17-ketosteroids and decreased [[renin]]. | |||
==What are the symptoms of 17 alpha-hydroxylase deficiency?== | |||
Symptoms of 17 alpha-hydroxylase deficiency include [[delayed puberty]] and [[primary amenorrhea]] and [[hypertension]]. | |||
==What causes 17 alpha-hydroxylase deficiency?== | |||
Mutations in the [[CYP17A1|CYP17]] [[gene]] cause 17 alpha-hydroxylase deficiency. | |||
==What causes | |||
Mutations in the | |||
==Who is at highest risk?== | ==Who is at highest risk?== | ||
The most potent risk factor in the development of | The most potent risk factor in the development of 17 alpha-hydroxylase deficiency is the presence of [[family history]] of this disease. | ||
==Diagnosis== | ==Diagnosis== | ||
Laboratory findings consistent with the diagnosis of | Laboratory findings consistent with the diagnosis of 17 alpha-hydroxylase deficiency include elevated [[17-Hydroxyprogesterone|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 | A person should seek urgent medical care when there are any complications that arise from 17 alpha-hydroxylase deficiency such as [[hypertension]]. | ||
==Treatment options== | ==Treatment options== | ||
==Where to find medical care for | The mainstay of therapy for 17 alpha-hydroxylase is [[glucocorticoid]] therapy. Also, [[spironolactone]] and [[estrogen]] may be used. | ||
[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 | ==Where to find medical care for 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 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. | [[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 | The prognosis of 17 alpha-hydroxylase deficiency is generally good with treatment | ||
==Possible complications== | ==Possible complications== | ||
* Vascular hemorrhage | * Vascular hemorrhage | ||
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* [[Stroke]] | * [[Stroke]] | ||
==Reference== | ==Reference== | ||
*[https://ghr.nlm.nih.gov/condition/17-alpha-hydroxylase-17-20-lyase-deficiency NIH] | |||
*[http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm Medlineplus] | |||
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Latest revision as of 18:47, 7 August 2017
For the WikiDoc page for this topic, click here.
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17 alpha-hydroxylase Deficiency |
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Where to find medical care for 17 alpha-hydroxylase Deficiency? |
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17 alpha-hydroxylase Deficiency On the Web |
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Directions to Hospitals Treating 17 alpha-hydroxylase Deficiency |
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Risk calculators and risk factors for 17 alpha-hydroxylase Deficiency |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Mehrian Jafarizade, M.D [2]
Overview
Symptoms of 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea. Mutations in the CYP17 gene cause 17 alpha-hydroxylase deficiency. The most potent risk factor in the development of 17 alpha-hydroxylase deficiency is the presence of family history of 17 alpha-hydroxylase deficiency. Laboratory findings consistent with the diagnosis of 17 alpha-hydroxylase deficiency include elevated 17α-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids and decreased renin.
What are the symptoms of 17 alpha-hydroxylase deficiency?
Symptoms of 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea and hypertension.
What causes 17 alpha-hydroxylase deficiency?
Mutations in the CYP17 gene cause 17 alpha-hydroxylase deficiency.
Who is at highest risk?
The most potent risk factor in the development of 17 alpha-hydroxylase deficiency is the presence of family history of this disease.
Diagnosis
Laboratory findings consistent with the diagnosis of 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 17 alpha-hydroxylase deficiency such as hypertension.
Treatment options
The mainstay of therapy for 17 alpha-hydroxylase is glucocorticoid therapy. Also, spironolactone and estrogen may be used.
Where to find medical care for 17 alpha-hydroxylase deficiency?
Directions to Hospitals Treating 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 17 alpha-hydroxylase deficiency is generally good with treatment
Possible complications
- Vascular hemorrhage
- Renal insufficiency
- Left ventricular hypertrophy
- Hypertensive retinopathy
- Stroke