Gene | MIM phenotype | |
Steroidogenesis disorders | ||
Congenital adrenal hyperplasia | ||
21-hydroxylase deficiency | CYP21A2 | MIM #201910 |
11-beta-hydroxylase deficiency | CYP11B1 | MIM #202010 |
17-alpha-hydroxylase deficiency | CYP17A1 | MIM #202110 |
3-beta-hydroxysteroid dehydrogenase deficiency | HSD3B2 | MIM #201810 |
Congenital lipoid adrenal hyperplasia | StAR | MIM #201710 |
P450 side-chain cleavage deficiency | CYP11A1 | MIM #613743 |
P450 oxidoreductase deficiency (apparent combined CYP21A2 and CYP17A1 deficiency) | POR | MIM #613571 |
Defects in aldosterone production | ||
Aldosterone synthase deficiency | CYP11B2 | MIM #203400 (type 1) MIM #610600 (type 2) |
Defects in cholesterol biochemistry | ||
Lysosomal acid lipase deficiency (Wolman disease) | LIPA | MIM #278000 |
Smith-Lemli-Opitz syndrome | DHCR7 | MIM #270400 |
Adrenal damage or dysfunction | ||
Bilateral adrenal hemorrhage of the newborn | ||
Adrenal hemorrhage of acute infection | ||
Autoimmunity | ||
Autoimmune polyglandular syndromes | MIM #240300 (APS 1) MIM %269200 (APS 2) | |
Infection | ||
Tuberculosis | ||
Fungal infection | ||
Human immunodeficiency virus | ||
Cytomegalovirus | ||
Mitochondrial diseases due to mitochondrial DNA mutations (eg, some cases of Kearns-Sayre, Pearson, or MELAS syndromes) | MIM #530000 (Kearns-Sayre) MIM #557000 (Pearson) MIM #540000 (MELAS) | |
Critical illness-related corticosteroid insufficiency (CIRCI) | ||
Transient adrenal insufficiency in premature infants | ||
Peroxisomal defects | ||
Adrenoleukodystrophy/adrenomyeloneuropathy (X-linked) | ABCD1 | MIM #300100 |
Zellweger syndrome and its variants (autosomal recessive) | PEX1; PEX6 | MIM #214100 |
Genetic causes of adrenal hypoplasia | ||
Adrenal hypoplasia congenita | NR0B1 (DAX1) NR5A1 (SF1) | MIM #300200 (X-linked) MIM #612964 (often with differences in sex development) |
MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) | SAMD9 | MIM #617053 |
IMAGe syndrome (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) | CDKN1C | MIM #614732 |
Chromosome Xp21 deletion syndrome (contiguous gene complex) | MIM #300679 | |
SGPL1 mutations (adrenal insufficiency, steroid-resistant nephrotic syndrome, hypothyroidism, neurologic symptoms) | SGPL1 | MIM #617575 |
Inherited adrenal unresponsiveness to ACTH* | ||
Familial glucocorticoid deficiency | MC2R MRAP NNT TXNRD2 | MIM #202200 (type 1) MIM #607398 (type 2) MIM #614736 (type 4) MIM #617825 (type 5) |
Triple A syndrome | AAAS | MIM #231550 |
Drugs | ||
High-dose ketoconazole | ||
Mitotane | ||
Etomidate | ||
Opioids |