IllnessAdrenal insufficiency, differential diagnosis

NGS +

{Sanger]

Primary adrenal hypoplasia is a congenital intrinsic developmental defect with hypofunctional and hypertrophic adrenal glands. It occurs in many forms, X-linked (adrenal hypoplasia, congenital), autosomal recessive (achalasia-addisonianism-alakrimia syndrome, familial glucocorticoid deficiency) and syndromal (IMAGE, SERKAL syndromes, etc.). Secondary adrenal hypoplasia results from pituitary or hypothalamic dysfunction. These conditions cause both decreased synthesis and secretion of ACTH and include defects in transcription factors in pituitary development, pituitary adenomas, POMC and convertase 1 (PCSK1) enzyme defects. Other causes of secondary adrenal hypoplasia include isolated ACTH deficiency, pituitary developmental disease and developmental abnormalities of the central nervous system. Initially, patients often become symptomatic in infancy or childhood, usually with adrenal (salt wasting) crisis. Nonspecific symptoms include fever, convulsions and impaired consciousness, hypoglycemia, hyperkalemia, hyponatremia, and metabolic acidosis with hypotension, hypovolemia, dehydration, and shock. The DNA diagnostic yield is unknown. A negative molecular genetic result does not constitute exclusion of the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1431/

• Alias: Acute adrenal failure
• Alias: Addison disease
• Alias: Addisonian crisis
• Alias: Adrenal crisis
• Alias: Adrenocortical crisis
• Alias: Congenital adrenal hypoplasia
• Alias: Kongenitale Hypoplasie der Nebennieren
• Alias: Morbus Addison
• Alias: Nebennieren-Hypoplasie, kongenital
• Alias: [Nebennierenrinden-Insuffizienz]
• Allelic: Aldosteronism, glucocorticoid-remediable (CYP11B1)
• Allelic: Colorectal cancer, susceptibility to, 12 (POLE)
• Allelic: FILS syndrome (POLE)
• Allelic: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
• Allelic: Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
• Allelic: Mullerian aplasia + hyperandrogenism (WNT4)
• Allelic: Obesity, susceptibility to, BMIQ12 (PCSK1)
• Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• 17,20-lyase deficiency, isolated (CYP17B1)
• 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17B1)
• Achalasia-addisonianism-alacrimia syndrome (AAAS)
• Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
• Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
• Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
• Adrenal hypoplasia, congenital (NR0B1)
• Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
• Adrenocortical insufficiency (NR5A1)
• Adrenocorticotropic hormone deficiency (TBX19)
• Adrenoleukodystrophy (ABCD1)
• Adrenomyeloneuropathy, adult (ABCD1)
• Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (POR)
• Autoimmune polyendocrinopathy syndrome , type I, with/-out reversible metaphyseal dysplasia (AIRE)
• Cholesteryl ester storage disease (LIPA)
• Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
• Glucocorticoid deficiency 2 (MRAP)
• Glucocorticoid deficiency 4, with/-out mineralocorticoid deficiency (NNT)
• Glucocorticoid deficiency 5 (TXNRD2)
• Glucocorticoid deficiency, due to ACTH unresponsiveness (MC2R)
• Growth hormone deficiency with pituitary anomalies (HESX1)
• Growth hormone deficiency, isolated, type IA (GH1)
• Growth hormone deficiency, isolated, type IB (GH1)
• Growth hormone deficiency, isolated, type II (GH1)
• IMAGE syndrome (CDKN1C)
• IMAGE-I syndrome (POLE)
• Immunodeficiency 54 (MCM4)
• Kowarski syndrome, bioinactive growth hormone (GH1)
• Lipoid adrenal hyperplasia (STAR)
• MIRAGE syndrome (SAMD9)
• Microphthalmia, syndromic 3 (SOX2)
• Microphthalmia, syndromic 5 (OTX2)
• Nephrotic syndrome, type 14 (SGPL1)
• Obesity with impaired prohormone processing (PCSK1)
• Obesity, adrenal insufficiency + red hair due to POMC deficiency (POMC)
• Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
• Panhypopituitarism, XL (SOX3)
• Pituitary hormone deficiency, combined, 2 (PROP1)
• Pituitary hormone deficiency, combined, 3 (LHX3)
• Pituitary hormone deficiency, combined, 4 (LHX4)
• Pituitary hormone deficiency, combined, 5 (HESX1)
• Pituitary hormone deficiency, combined, 6 (OTX2)
• Polydactyly, postaxial, type A8 (GLI1)
• Polydactyly, preaxial I (GLI1)
• Septooptic dysplasia (HESX1)
• Serkal syndrome (WNT4)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Wolman disease (LIPA)