21-hydroxylase deficiency overview: Difference between revisions
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==Causes== | ==Causes== | ||
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the ''CYP21A2'' gene. | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the ''CYP21A2'' gene. | ||
==Differentiating | ==Differentiating Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency from other Diseases== | ||
[[Congenital adrenal hyperplasia]] due to 21-hydroxylase deficiency must be differentiated from other adrenal diseases such as 11-β hydroxylase deficiency and 17-α hydroxylase deficiency. | [[Congenital adrenal hyperplasia]] due to 21-hydroxylase deficiency must be differentiated from other adrenal diseases such as 11-β hydroxylase deficiency and 17-α hydroxylase deficiency. | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The incidence of 21-hydroxlase deficient congenital adrenal hyperplasia is approximately 1 per 15,000 births. | The incidence of 21-hydroxlase deficient congenital adrenal hyperplasia is approximately 1 per 15,000 births. | ||
Revision as of 19:36, 18 September 2015
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2] Ahmad Al Maradni, M.D. [3]
Overview
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH) also known as (CAH1) accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency.[1] Congenital adrenal hyperplasia was first discovered by Luigi De Crecchio, an Italian anatomist. It is caused by mutations in the CYP21A2 gene. It must be differentiated from other causes of adrenal hyperplasia such as 11-β hydroxylase deficiency and 17-α hydroxylase deficiency. Symptoms include dehydration, vomiting and weight loss, symptoms occur later may include virilization and infertility. The mainstay of therapy for 21-hydroxylase deficient congenital adrenal hyperplasia is glucocorticoid replacement.
Historical Perspective
Congenital adrenal hyperplasia was first discovered by Luigi De Crecchio, an Italian anatomist.
Classification
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency may be classified into several subtypes based on severity, time of onset, and presence of virilization.
Pathophysiology
Development of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the result of defective P450c21 enzyme.
Causes
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene.
Differentiating Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency from other Diseases
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency must be differentiated from other adrenal diseases such as 11-β hydroxylase deficiency and 17-α hydroxylase deficiency.
Epidemiology and Demographics
The incidence of 21-hydroxlase deficient congenital adrenal hyperplasia is approximately 1 per 15,000 births.
Risk Factors
The most potent risk factor in the development of 21-hydroxylase deficient congenital adrenal hyperplasia is mutations in the CYP21A2 gene.
Screening
According to the the Endocrine Society’s CGS and Clinical Affairs Core Committee, screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency by determining the serum level of 17OHP, androstenedione, and cortisol is recommended in newborns.[2][3]==Natural History== The prognosis of 21-hydroxylase deficient congenital adrenal hyperplasia is generally good with treatment. Common complications of 21-hydroxylase deficient congenital adrenal hyperplasia include short stature, adrenal crisis, infertility, and precocious puberty.
Natural History, Complications and prognosis
The prognosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is generally good with treatment. Common complications of 21-hydroxylase deficient congenital adrenal hyperplasia include short stature, adrenal crisis, infertility, and precocious puberty.
Diagnosis
History and Symptoms
Symptoms of 21-hydroxylase deficient congenital adrenal hyperplasia include dehydration, vomiting and weight loss, symptoms occur later may include virilization and infertility.
Physical Examination
Patients with 21-hydroxylase deficient congenital adrenal hyperplasia usually appear underweight and dehydrated. Physical examination of patients with 21-hydroxylase deficient congenital adrenal hyperplasia is usually remarkable for hypotension .and virilization.
Laboratory Findings
Laboratory findings consistent with the diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia include hyponatremia, hyperkalemia, and low cortisol level.
Ultrasound
On ultrasound, congenital adrenal hyperplasia due to 21-hydroxylase deficiency is characterized by enlarged, wrinkled surface, cerebriform adrenal glands.[4]
CT Scan
On CT scan, congenital adrenal hyperplsia is characterized by bilateral symmetric enlargement of adrenal glands.
MRI
On MRI, congenital adrenal hyperplsia is characterized by bilateral symmetric enlargement of adrenal glands.
Treatment
Medical therapy
The mainstay of therapy for 21-hydroxylase deficient congenital adrenal hyperplasia is glucocorticoid replacement.
Surgery
Surgery is not the first-line treatment option for patients with congenital adrenal hyperplasia due to 21-hydroxylase deficieny. Surgical reconstruction of abnormal genitalia is usually reserved for severely virilized girls.
Primary Prevention
There are no primary preventive measures available for congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Secondary Prevention
Continued monitoring of hormone balance and careful readjustment of glucocorticoid dose is helpful in controlling fertility and preventing adrenal crisis.
References
- ↑ White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
- ↑ https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening
- ↑ Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M; et al. (2009). "Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience". Pediatr Res. 66 (2): 230–5. doi:10.1203/PDR.0b013e3181aa3777. PMID 19390483.
- ↑ http://radiopaedia.org/articles/congenital-adrenal-hyperplasia