21-hydroxylase deficiency (patient information): Difference between revisions
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'''For the WikiDoc page for this topic, click [[21-hydroxylase deficiency|here]]''' | '''For the WikiDoc page for this topic, click [[21-hydroxylase deficiency|here]]''' | ||
{{ | {{21-hydroxylase deficiency (patient information)}} | ||
{{CMG}}; '''Associate Editor(s)-In-Chief:''' {{MJ}} | {{CMG}}; '''Associate Editor(s)-In-Chief:''' {{MJ}} | ||
==Overview== | ==Overview== | ||
21-hydroxylase deficiency is the most common type of congenital adrenal hyperplasia. Almost 95% of congenital adrenal hyperplasia patients is 21-hydroxylase deficient. Gene [[mutation]]s are the cause of these diseases. [[Mutation]]s in the CYP21A2 gene cause this disorder. CYP21A2 gene provides instructions for making an [[enzyme]] called steroid 21-hydroxylase, which enables the [[adrenal gland]]s to convert cholesterol into other [[steroid hormone]]s. Patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, the adrenal glands typically don't produce enough of the hormone [[cortisol]]. Deficiency of 21-hydroxylase can interfere with normal growth and development in children and adults. Usual signs and symptoms include girls' external appearance change, boys may have 2~3 years early [[virilizing]] characteristics than the normal, even [[adrenal crisis]] in the newborn. Serum and urinary hormone level can help the diagnosis. Steroid therapy and [[surgery]] to correct the appearance and function of the genitals are the main treatments. Many patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency can lead normal lives with proper treatment. Infants with untreated [[adrenal crisis]] may die within several weeks after birth. | |||
==What are the symptoms of 21-hydroxylase deficiency?== | |||
==What are the symptoms of | |||
====Signs and symptoms in infants:==== | ====Signs and symptoms in infants:==== | ||
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* Low [[bone density]] | * Low [[bone density]] | ||
== What causes | == What causes 21-hydroxylase deficiency? == | ||
[[Mutation|Mutations]] in the CYP21A2 gene cause congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | [[Mutation|Mutations]] in the CYP21A2 gene cause congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | ||
==Who is at risk for | ==Who is at risk for 21-hydroxylase deficiency?== | ||
Family history of congenital adrenal hyperplasia is the risk factor for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | Family history of congenital adrenal hyperplasia is the risk factor for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | ||
==Diagnosis== | ==Diagnosis== | ||
* Blood or urine levels of hormones or their metabolites: In patients with | * Blood or urine levels of hormones or their metabolites: In patients with 21-hydroxylase deficiency, doctors may see abnormal serum electrolytes and urine electrolytes, high levels of 17-OH progesterone, high levels of serum DHEA sulfate, high levels of urinary 17-ketosteroids, low levels of [[aldosterone]] and [[cortisol]], normal or low urinary 17-hydroxycorticosteroids. | ||
* X-ray for bone age: This can be done in the department of radiation. It shows older bones than normal for the person's age. | * X-ray for bone age: This can be done in the department of radiation. It shows older bones than normal for the person's age. | ||
* Gene detection: This may be the most accurate test for the diagnosis. In patients with | * Gene detection: This may be the most accurate test for the diagnosis. In patients with 21-hydroxylase deficiency, [[mutation]]s of CYP21A2 gene can be detected. | ||
==When to seek urgent medical care?== | ==When to seek urgent medical care?== | ||
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* 17-α hydroxylase deficiency | * 17-α hydroxylase deficiency | ||
==Where to find medical care for | ==Where to find medical care for 21-hydroxylase deficiency?== | ||
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating | [http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating 21-hydroxylase deficiency] | ||
==Prevention== | ==Prevention== | ||
Doctors often recommend [[genetic counseling]] for parents who have | Doctors often recommend [[genetic counseling]] for parents who have 21-hydroxylase deficiency. Early diagnosis during pregnant peroid can minimize or even eliminate symptoms after birth. | ||
==What to expect (Outook/Prognosis)?== | ==What to expect (Outook/Prognosis)?== | ||
Prognosis of | Prognosis of 21-hydroxylase deficiency are usually ''good''. But when adrenal crisis happens and is untreated, the patient may die within 1~6 weeks after birth. | ||
==Resources== | ==Resources== | ||
*[http://ghr.nlm.nih.gov/condition=21hydroxylasedeficiency NIH] | *[http://ghr.nlm.nih.gov/condition=21hydroxylasedeficiency NIH] | ||
Revision as of 16:17, 24 July 2017
For the WikiDoc page for this topic, click here
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21-hydroxylase Deficiency |
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21-hydroxylase Deficiency On the Web |
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Risk calculators and risk factors for 21-hydroxylase Deficiency |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Mehrian Jafarizade, M.D [2]
Overview
21-hydroxylase deficiency is the most common type of congenital adrenal hyperplasia. Almost 95% of congenital adrenal hyperplasia patients is 21-hydroxylase deficient. Gene mutations are the cause of these diseases. Mutations in the CYP21A2 gene cause this disorder. CYP21A2 gene provides instructions for making an enzyme called steroid 21-hydroxylase, which enables the adrenal glands to convert cholesterol into other steroid hormones. Patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, the adrenal glands typically don't produce enough of the hormone cortisol. Deficiency of 21-hydroxylase can interfere with normal growth and development in children and adults. Usual signs and symptoms include girls' external appearance change, boys may have 2~3 years early virilizing characteristics than the normal, even adrenal crisis in the newborn. Serum and urinary hormone level can help the diagnosis. Steroid therapy and surgery to correct the appearance and function of the genitals are the main treatments. Many patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency can lead normal lives with proper treatment. Infants with untreated adrenal crisis may die within several weeks after birth.
What are the symptoms of 21-hydroxylase deficiency?
Signs and symptoms in infants:
In this form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth due to loss of salt.
- Dehydration and weight loss
- Vomiting
- Cardiac arrhythmias
- Electrolyte changes
Signs and symptoms of adrenal hyperplasia in children and adults:
Girls will usually have normal internal female reproductive organs as normal girls. But some of their external appearance may change. Boys won't have any obvious problems at birth. However, they may have 3-4 years early virilizing characteristics than normal boys.
- Irregular or absent menstruation in girls
- Ambiguous genitalia or virilizing characteristics in girls, often appearing more male than female: Deep voice, early appearance of pubic and armpit hair, excessive hair growth and facial hair
- Early appearance of masculine characteristics in boys: Deep voice, early appearance of pubic and armpit hair, enlarged penis, small testes, well-developed muscles
- Rapid growth during childhood, but shorter than average final height
- Infertility
- Low bone density
What causes 21-hydroxylase deficiency?
Mutations in the CYP21A2 gene cause congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Who is at risk for 21-hydroxylase deficiency?
Family history of congenital adrenal hyperplasia is the risk factor for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Diagnosis
- Blood or urine levels of hormones or their metabolites: In patients with 21-hydroxylase deficiency, doctors may see abnormal serum electrolytes and urine electrolytes, high levels of 17-OH progesterone, high levels of serum DHEA sulfate, high levels of urinary 17-ketosteroids, low levels of aldosterone and cortisol, normal or low urinary 17-hydroxycorticosteroids.
- X-ray for bone age: This can be done in the department of radiation. It shows older bones than normal for the person's age.
- Gene detection: This may be the most accurate test for the diagnosis. In patients with 21-hydroxylase deficiency, mutations of CYP21A2 gene can be detected.
When to seek urgent medical care?
- Contact your doctor if your child has signs and symptoms that seem to suggest congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- For the women who may carry the mutate gene, you need to talk with your doctor, obtain appropriate information about the condition and the risk of having an affected child, and to decide on whether to have children.
Treatment options
The goal of treatment is to return hormone levels to normal. The treatments include steroid therapy and surgery. Talk to you or your kid's doctor about side effects and your family's preferences.
- Determination the gender of a baby: When the baby with ambiguous genitalia born, the health care provider will determine the gender by checking the chromosomes.
- Steroid therapy: Dexamethasone, fludrocortisone, or hydrocortisone every day. During times of stress, such as severe illness or surgery, they may need additional doses of medicine.
- Surgery: For female infants with virilizing characteristics, doctors recommend reconstructive surgery to correct the appearance and function of the genitals between 2 and 6 months of age.
Diseases with similar symptoms
- Androgen insensitivity syndrome
- 11-β hydroxylase deficiency
- 17-α hydroxylase deficiency
Where to find medical care for 21-hydroxylase deficiency?
Directions to Hospitals Treating 21-hydroxylase deficiency
Prevention
Doctors often recommend genetic counseling for parents who have 21-hydroxylase deficiency. Early diagnosis during pregnant peroid can minimize or even eliminate symptoms after birth.
What to expect (Outook/Prognosis)?
Prognosis of 21-hydroxylase deficiency are usually good. But when adrenal crisis happens and is untreated, the patient may die within 1~6 weeks after birth.