Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age
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초록
Primary adrenal insufficiency (PAI) in pediatric age is a rare, but potentially fatal condition caused by diverse etiologies including biochemical defects of steroid biosynthesis, developmental abnormalities of the adrenal gland, or reduced responsiveness to adrenocorticotropic hormone. Compared to adult PAI, pediatric PAI is more often the result of genetic (monogenic, syndromic disorders) than acquired conditions. During the past decade, rare monogenic disorders associated with PAI have helped unravel the underlying novel molecular genetic mechanism. The diagnosis of adrenal insufficiency in children and young infancy is often challenging, usually based on clinical suspicion and endocrine laboratory findings. Pediatric endocrinologists sometimes encounter therapeutic difficulty in finding the balance between undertreatment and overtreatment, determining how to optimize the dose over the patient’s lifetime, and maximizing mimicry of normal cortisol secretion with glucocorticoid replacement therapy.
Abstract
Primary adrenal insufficiency (PAI) in pediatric age is a rare, but potentially fatal condition caused by diverse etiologies including biochemical defects of steroid biosynthesis, developmental abnormalities of the adrenal gland, or reduced responsiveness to adrenocorticotropic hormone. Compared to adult PAI, pediatric PAI is more often the result of genetic (monogenic, syndromic disorders) than acquired conditions. During the past decade, rare monogenic disorders associated with PAI have helped unravel the underlying novel molecular genetic mechanism. The diagnosis of adrenal insufficiency in children and young infancy is often challenging, usually based on clinical suspicion and endocrine laboratory findings. Pediatric endocrinologists sometimes encounter therapeutic difficulty in finding the balance between undertreatment and overtreatment, determining how to optimize the dose over the patient’s lifetime, and maximizing mimicry of normal cortisol secretion with glucocorticoid replacement therapy.
참고문헌 (41)
- Capalbo D, "Primary adrenal insufficiency in childhood : data from a large nationwide cohort", J Clin Endocrinol Metab, 106, pp.762~773 (2021)
- Buonocore F, "Primary adrenal insufficiency : new genetic causes and their long-term consequences", Clin Endocrinol, 92, pp.11~20 (2020)
- Choi JH, "Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency", Exp Clin Endocrinol Diabetes, 120, pp.23~27 (2012)
- Kim JM, "High allele frequency of the p. Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia", Eur J Endocrinol, 165, pp.771~778 (2011)
- Kang E, "Mutation spectrum of STAR and the founder effect of p. Q258* in Korean patients with congenital lipoid adrenal hyperplasia", Mol Med, 23, pp.149~154 (2017)
- Meimaridou E, "Familial glucocorticoid deficiency : new genes and mechanisms", Mol Cell Endocrinol, 371, pp.195~200 (2013)
- Kim YM, "A review of the literature on common CYP17A1mutations in adults with 17-hydroxylase", 17, 20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation, 2014, pp.63, 42~49
- Lee Yena, "Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency", Annals of Pediatric Endocrinology & Metabolism, 25(2), pp.97~103 (2020), 대한소아내분비학회[DOI]
- Engelen M, "X-linked adrenoleukodystrophy(X-ALD) : clinical presentation and guidelines for diagnosis, followup and management", Orphanet J Rare Dis, 7, pp.51~64 (2012)
- Berendse K, "High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders", Orphanet J Rare Dis, 9, pp.133~136 (2014)
- Nowaczyk MJ, "Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome", Am J Med Genet, 103, pp.223~225 (2001)
- Anderson RA, "Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease", Mol Genet Metab, 68, pp.333~345 (1999)
- Choi YJ, "Sphingosine phosphate lyase insufficiency syndrome(SPLIS) : a novel inborn error of sphingolipid metabolism", Adv Biol Regul, 71, pp.128~140 (2019)
- Prasad R, "Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroidresistant nephrotic syndrome", J Clin Invest, 127, pp.942~953 (2017)
- Chow J, "Mitochondrial disease and endocrine dysfunction", Nat Rev Endocrinol, 13, pp.92~104 (2017)
- Williams TB, "Pearson syndrome : unique endocrine manifestations including neonatal diabetes and adrenal insufficiency", Mol Genet Metab, 106, pp.104~107 (2012)
- Meimaridou E, "Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency", Nat Genet, 44, pp.740~742 (2012)
- Prasad R, "Thioredoxin reductase 2(TXNRD2)mutation associated with familial glucocorticoid deficiency(FGD)", J Clin Endocrinol Metab, 99, pp.E1556~E1563 (2014)
- Choi JH, "Identification of novel mutations of the DAX-1 gene in patients with X-Linked adrenal hypoplasia congenita", Horm Res, 63, pp.200~205 (2005)
- Woo KH, "Novel heterozygous mutations of NR5A1 and their functional characteristics in patients with 46, XY disorders of sex development without adrenal Insufficiency", Horm Res Paediatr, 84, pp.116~123 (2015)
- Arboleda VA, "Mutations in the PCNA binding domain of CDKN1C cause IMAGe syndrome", Nat Genet, 44, pp.788~792 (2012)
- Logan CV, "DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency", Am J Hum Genet, 103, pp.1038~1044 (2018)
- Narumi S, "SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7", Nat Genet, 48, pp.792~797 (2016)
- Kim YM, "A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing", BMC Med Genet, 19, pp.35~39 (2018)
- Chung TT, "The majority of adrenocorticotropin receptor(melanocortin 2 receptor)mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface", J Clin Endocrinol Metab, 93, pp.4948~4954 (2008)
- Metherell LA, "Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2", Nat Genet, 37, pp.166~170 (2005)
- Metherell LA, "Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency", J Clin Endocrinol Metab, 94, pp.3865~3871 (2009)
- Allgrove J, "Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production", Lancet, 311, pp.1284~1286 (1978)
- Hughes CR, "MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans", J Clin Invest, 122, pp.814~820 (2012)
- Frommer L, "Autoimmune polyendocrinopathy", J Clin Endocrinol Metab, 104, pp.4769~4782 (2019)
- Barzaghi F, "IPEX syndrome : improved knowledge of immune pathogenesis empowers diagnosis", Front Pediatr, 9, pp.1~10 (2021)
- Ramon I, "Primary adrenal insufficiency due to bilateral adrenal hemorrhage-adrenal infarction in the antiphospholipid syndrome : long-term outcome of 16patients", J Clin Endocrinol Metab, 98, pp.3179~3189 (2013)
- Shaffer ML, "Effect of prophylaxis for early adrenal insufficiency using low-dose hydrocortisone in very preterm infants : an individual patient data metaanalysis", J Pediatr, 207, pp.136~142 (2019)
- Park J, "The diagnosis and treatment of adrenal insufficiency during childhood and adolescence", Arch Dis Child, 101, pp.860~865 (2016)
- Bornstein SR, "Diagnosis and treatment of primary adrenal insufficiency : an endocrine society clinical practice guideline", J Clin Endocrinol Metab, 101, pp.364~389 (2016)
- Malikova J, "Novel insight into etiology, diagnosis and management of primary adrenal Insufficiency", Horm Res Paediatr, 82, pp.145~157 (2014)
- Buonocore F, "Current insights into adrenal insufficiency in the newborn and young infant", Front Pediatr, 8, pp.1~11 (2020)
- Hannah-Shmouni F, "An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency", Rev Endocr Metab Dis, 19, pp.53~67 (2018)
- Dineen R, "Factors impacting on the action of glucocorticoids in patients receiving glucocorticoid therapy", Clin Endocrinol, 90, pp.3~14 (2019)
- Speiser PW, "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency : an endocrine society clinical practice guideline", J Clin Endocrinol Metab, 103, pp.4043~4088 (2018)
- Oprea A, "Novel insights into glucocorticoid replacement therapy for pediatric and adult adrenal insufficiency", Ther Adv Endocrinol Metab, 10, pp.1~27 (2019)
