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5A71.01 Congenital adrenal hyperplasia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Congenital adrenal hyperplasia (CAH) refers to a group of conditions associated with either complete (classical form) or partial (non-classical) anomalies in the biosynthesis of adrenal hormones. The condition is characterised by insufficient production of cortisol, or of aldosterone (classical form with salt wasting), associated with overproduction of adrenal androgens. In the classical form, metabolic decompensation (dehydration with hyponatraemia, hyperkalaemia and acidosis associated with mineralocorticoid deficiency, and hypoglycaemia associated with glucocorticoid deficiency) may be life-threatening from the neonatal period onwards. Genital variations may be noted at birth in affected females. Chronic hyperandrogenism may lead to accelerated growth during childhood, but advanced bone maturation may lead to a deficit in final height. Adults tend to be overweight and metabolic disturbances, bone anomalies and fertility problems may also be present. Non-classical forms are associated with later onset, during the peri- or postpubertal period, and manifest with signs of hyperandrogenism (acne, hirsutism, menstrual problems and infertility).

postcoordination

synonyms

• Congenital adrenal hyperplasia
• Congenital adrenogenital disorders associated with enzyme deficiency
• congenital adrenal cortical hyperplasia
• congenital adrenal gland hyperplasia
• congenital adrenogenital syndrome
• congenital hyperadrenocorticism
• congenital adrenogenitalism
• congenital female adrenal pseudohermaphroditism
• Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt-losing
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form, salt wasting
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form, simple virilizing
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, non-classic form
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, non salt-losing
• Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Congenital adrenal hyperplasia due to cytochrome POR deficiency
• Congenital adrenal hyperplasia due to side-chain cleavage enzyme deficiency
• Congenital lipoid adrenal hyperplasia due to STAR deficiency
• Congenital lipoid adrenal hyperplasia due to STAR deficiency, classic form
• Congenital lipoid adrenal hyperplasia due to STAR deficiency, nonclassic form

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