Version May 2024
| 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 | |
| RENI syndrome (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 | ||
MELAS: mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; CIRCI: critical illness-related corticosteroid insufficiency; ACTH: adrenocorticotropic hormone; RENI: renal, endocrine, neurologic and immune.
* In familial glucocorticoid deficiency and triple A syndrome, patients usually have isolated glucocorticoid deficiency and not mineralocorticoid deficiency, so the clinical presentation may be similar to central adrenal insufficiency rather than primary adrenal insufficiency. However, hyperpigmentation may be present.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
