17 alpha-hydroxylase deficiency (patient information)
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
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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
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.
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