PRIMARYDisorders associated with adrenal gland hyperplasia
• 21-Hydroxylase deficiency (gene CYP21A2, OMIM 210910)
• 3β-Hydroxysteroid dehydrogenase deficiency (gene HSD3B2, OMIM 201810)
• Cholesterol desmolase deficiency (gene CYP11A, OMIM 201710, 118485)
• Lipoid hyperplasia (gene STAR, OMIM 201710)
• Glucocorticoid resistance (gene GCCR, OMIM 138040)
• Wolman disease (gene LIPA, OMIM 278000)
Disorders associated with adrenal gland hypoplasia
• Adrenal hypoplasia congenita (gene NR0B1(DAX-1), OMIM 300200)
• Adrenocortical insufficiency with or without ovarian defect (gene NR5A1 (SF-1), OMIM 184757)
• Familial glucocorticoid deficiency (ACTH resistance) (gene MC2R/MRAP, OMIM 202200)
• Triple A (ACTH resistance, achalasia, alacrima) (gene AAAS, OMIM 231550)
• IMAGe (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenital and genital anomalies) syndrome (X-linked, OMIM 300290)
Metabolic diseases
• Adrenoleukodystrophy (X-linked) (gene ABCD1, OMIM 300100)
• Smith-Lemli-Opitz syndrome (gene DCHR7, OMIM 270400)
• Kearns-Sayre syndrome (gene mitochondrial DNA deletions, OMIM 530000)
Disorders associated with isolated aldosterone deficiency
• Pseudohypoaldosteronism, type 1 (AR) (gene ENaC, OMIM 264350)
• Pseudohypoaldosteronism, type 1 (AD) (gene MR, OMIM 177735)
• Pseudohypoaldosteronism, type 2 (AR) (gene WNK4;WNK1, OMIM 145260)
• Corticosterone methyl oxidase deficiency I (gene CYP11B2, OMIM 124080)
• Corticosterone methyl oxidase deficiency I (gene CYP11B2, OMIM 610600)
Acquired
• Autoimmune adrenalitis, isolated
• Autoimmune polyendocrine syndrome type 1 (gene AIRE, OMIM 240300)
• Autoimmune polyendocrine syndrome type 2 (gene MICA5.1 & HLA-DR3/DQ2, OMIM 269200)
• Hemorrhage or infarction due to:
ₒ Trauma
ₒ Waterhouse-Friderichsen syndrome
ₒ Anticoagulation
ₒ Drug effects (aminoglutethimide, mitotane, ketoconazole, metyrapone, medroxyprogesterone, megestrol, etomidate, rifampin, phenytoin, barbiturates)
ₒ Infection
ₒ Virus (HIV, cytomegalovirus)
ₒ Fungus (coccidiomycosis, histoplasmosis, blastomycosis, cryptococcosis)
ₒ Mycobacterium (tuberculosis)
ₒ Amebic
ₒ nfiltrative
• Hemochromatosis, histiocytosis, sarcoidosis, amyloidosis
• Neoplasm
SECONDARY
Hypothalamus
Congenital
• Septo-optic dysplasia (gene HESX1, OMIM 182230)
• Corticotropin releasing hormone deficiency (gene CRH, OMIM 122560)
• Maternal hypercortisolemia
Acquired
• Inflammatory disorders
• Trauma
• Radiotherapy
• Surgery
• Tumors
• Infiltrative disease (sarcoidosis, histocytosis X)
• Steroid withdrawal after prolonged administration
Pituitary
Congenital
• Pituitary hormone deficiency, combined (gene POU1F1/PIT1, OMIM 173110, gene PROP-1, OMIM 601538)
• Proopiomelanocortin deficiency (gene POMC, OMIM 609734)
• Proconvertase 1 (gene PCSK1, OMIM 600955)
• Isolated ACTH deficiency (gene TBX19/TPIT, OMIM 604614)
Acquired
• Trauma
• Tumor (craniopharyngioma)
• Radiotherapy
• Lymphocytic hypophysitis
• Steroid withdrawal after prolonged administration
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