- Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the impaired enzymatic action of one of the enzymes required for the synthesis of cortisol or aldosterone in the adrenal cortex. The most frequent disorder is steroid 21-hydroxylase deficiency, accounting for more than 90 % of cases. The second most frequent is 11 beta-hydroxylase deficiency accounts for 5-8% of all congenital adrenal hyperplasia cases.
- Another disorder, 17-hydroxylase deficiency accounts for less than 1% of cases of congenital adrenal hyperplasia. Blocks in cortisol or aldosterone synthesis result in some degree of cortisol deficiency, aldosterone deficiency, or both. On the other hand, blocks in cortisol synthesis impair the negative feedback control of the adrenocorticotropic hormone (ACTH) secretion, which leads to chronic stimulation of the adrenal cortex by ACTH and adrenal cortical hyperplasia. The enzyme deficiencies in adrenogenital syndrome (congenital adrenal hyperplasia) act as a dam behind which steroid precursors accumulate. They are then shunted through the uninhibited pathways and result in excessive synthesis and secretion of adrenal androgens.
- Girls with a more severe form often have abnormal genitals at birth and may be diagnosed before symptoms appear.
- Boys will appear normal at birth even if they have a more severe form.
- In children with the more severe form of the disorder, symptoms often develop within 2 or 3 weeks after birth.
- Electrolyte changes (abnormal levels of sodium and potassium in the blood).
- Abnormal heart rhythm.
- Abnormal menstrual periods or failure to menstruate.
- Excessive hair growth.
- Some enlargement of the clitoris.
- Deepening voice.
- Enlarged penis but normal testes.
- Well-developed muscles.
- Imaging: X-rays may be helpful.
- Genetic tests can help diagnose or confirm the disorder, but that are rarely needed.
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