Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).
- Congenital adrenal hypoplasia (underdevelopment of the adrenal glands)-genetic disorder with both autosomal dominant and autosomal recessive inheritance; severe adrenal insufficiency (adrenal weakness) manifesting shortly after birth; males exhibit pseudohermaphroditism (form of intersexuality in which the chromosomal and gonadal sexes are male)
- Smith-Lemli-Opitz syndrome (synonym: RSH syndrome (Opitz)) – congenital autosomal recessive inherited malformation syndrome based on a gene mutation; typically a metabolic disorder of cholesterol biosynthesis in which there is decreased activity of 7-dehydrocholesterol reductase (DHCR7), resulting in a deficiency of cholesterol.
- Zellweger syndrome (cerebral-hepatic-renal syndrome, cerebro-hepato-renal syndrome ) – genetic metabolic disorder with autosomal recessive inheritance characterized by absence of peroxisomes (spherical membrane-bounded organelles); Syndrome with malformations of the brain, kidneys (multicystic kidney dysplasia), heart (especially ventricular septal defects), and hepatomegaly (enlargement of the liver); severe cognitive disability.
Endocrine, nutritional, and metabolic diseases (E00-E90).
- Adrenogenital syndrome (AGS) – autosomal recessive inherited metabolic disease characterized by disorders of hormone synthesis in the adrenal cortex; these disorders result in deficiencies of aldosterone and cortisol.
- Adrenoleukodystrophy (synonyms: X-ALD; Addison-Schilder syndrome) – X-linked recessive disorder leading to a defect in steroid hormone synthesis with accumulation of overlong-chain fatty acids in the NNR and CNS; as a result, neurological deficits and dementia develop with onset in infancy
- Autoimmune polyendocrinopathy type 1/type 2 (autoimmune polyendocrinopathy type I, synonym: (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, APECED syndrome)) – genetic disorder with autosomal recessive inheritance, manifesting in childhood or early adolescence; Combination of chronic muco-cutaneous candidiasis (infectious diseases caused by fungi of the Candida genus), hypoparathyroidism (parathyroid insufficiency) and autoimmune adrenal insufficiency (adrenal weakness).
- Isolated glucocorticoid insufficiency.
- Isolated hypoaldosteronism – decreased blood aldosterone levels.
- Steroid biosynthesis defects
- Wolman syndrome – autosomal recessive lysosomal storage disease based on loss of activity of lysosomal acid lipase (LAL); characterized by gastrointestinal symptoms (vomiting and diarrhea), distended abdomen, atrophy and anemia (anemia), and hepatosplenomegaly (liver and spleen enlargement).
Neoplasms – tumor diseases (C00-D48).
- Tumor diseases, unspecified
Drugs
- Etomidate, fluconazole, milotane, ketoconazole – can cause adrenal insufficiency.
- Barbiturates, carbamazepine, phenytoin, rifampicin – accelerate cortisol metabolism.
Further
- Acute abdomen
- Shock conditions, unspecified
