21-hydroxylase deficiency overview
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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 congenital adrenal hyperplasia in most contexts refers to 21-hydroxylase deficiency.[1] Congenital adrenal hyperplasia was first discovered by Luigi De Crecchio, an Italian anatomist. Congenital adrenal hyperplasia due to 21-hydorxylase deficiency is caused by mutations in the CYP21A2 gene. The prevalence of congenital adrenal hyperplasia due to 21-hydroxylate deficiency ranges between 6.6 to 7.6 per 100,000 individuals. The incidence of congenital adrenal hyperplasia due to 21-hydroxlase deficiency is approximately 7.1 per 100,000 births. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually affects individuals of the Ashkenazi Jews and Mediterranean race, and the Ashkenazi Jews to Mediterranean race ratio is approximately 1 to 3.[2] Congenital adrenal hyperplasia due to 21-hydorxylase deficiency must be differentiated from other causes of adrenal hyperplasia such as 11-β hydroxylase deficiency and 17-α hydroxylase deficiency. Symptoms of congenital adrenal hyperplasia due to 21-hydorxylase deficiency include dehydration, vomiting, and weight loss. Late symptoms include virilization and infertility. The most potent risk factor in the development of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is presence of family history of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The mainstay of therapy for congenital adrenal hyperplasia due to 21-hydorxylase deficiency 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 the presence of virilization.
Pathophysiology
Development of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the result of a defective P450c21 enzyme. Genes involved in the pathogenesis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency include CYP21 gene.
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 11-β hydroxylase deficiency, 17-α hydroxylase deficiency, androgen insensitivity syndrome, polycystic ovarian syndrome, and adrenal tumor.
Epidemiology and Demographics
The prevalence of congenital adrenal hyperplasia due to 21-hydroxylate deficiency ranges between 6.6 to 7.6 per 100,000 individuals. The incidence of congenital adrenal hyperplasia due to 21-hydroxlase deficiency is approximately 7.1 per 100,000 births. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually affects individuals of the Ashkenazi Jews and Mediterranean race, and the Ashkenazi Jews to Mediterranean race ratio is approximately 1 to 3.[2]
Risk Factors
The most potent risk factor in the development of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is presence of family history of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
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.[3][4]
Natural History, Complications and Prognosis
Common complications of 21-hydroxylase deficient congenital adrenal hyperplasia include short stature, adrenal crisis, infertility, and precocious puberty. The prognosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is generally good with treatment.
Diagnosis
History and Symptoms
Symptoms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency include dehydration, vomiting, and weight loss. Late symptoms include virilization and infertility.
Physical Examination
Patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually appears 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 congenital adrenal hyperplasia due to 21-hydroxylase deficiency include hyponatremia, hyperkalemia, and low cortisol level.
Ultrasound
On abdominal ultrasound, congenital adrenal hyperplasia due to 21-hydroxylase deficiency is characterized by enlarged, wrinkled surface, and cerebriform adrenal glands.[5]
CT Scan
On abdominal CT scan, congenital adrenal hyperplsia due to 21-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the adrenal glands.
MRI
On abdominal MRI, congenital adrenal hyperplsia due to 21-hydroxylase deficiency is characterized by bilateral symmetric enlargement of the adrenal glands.
Other Diagnostic Studies
Immunohistochemical staining of the adrenal-gland may be used for the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and it shows hyperplasia, poorly defined zonation, and intermingling of the chromaffin and cortical cells.
Treatment
Medical Therapy
The mainstay of therapy for congenital adrenal hyperplasia due 21-hydroxylase deficiency is glucocorticoid replacement.
Surgery
Surgery is not the first-line treatment option for patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 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 in patient with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
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.
- ↑ 2.0 2.1 Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC; et al. (1988). "Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Pediatrics. 81 (6): 866–74. PMID 3259306.
- ↑ https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency URL Accessed on 10/15/2015
- ↑ 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