Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children

GURAN, TULAY

Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children

Tülay GÜRAN (Marmara University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, İstanbul, Turkey)

Journal of Clinical Research in Pediatric Endocrinology

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Yıl: 2017 Cilt: 9 Sayı: 2 (Özel) Sayfa Aralığı: 9 - 22 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children

Öz:

Primary adrenal insufficiency (PAI) is a heterogeneous group of disorders characterized by an impaired production of cortisol and othersteroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited and monogenic in origin and are associatedwith significant morbidity and mortality whenever the diagnosis and treatment is delayed. Therefore, early and accurate diagnosiswould allow appropriate management for the patients and genetic counselling for the family. Congenital adrenal hyperplasia accountsfor most cases of PAI in childhood, followed by abnormalities in the development of the adrenal gland, resistance to adrenocorticotropinhormone action and adrenal destruction. In recent years, the use of genome-wide, next-generation sequencing approaches openednew avenues for identifying novel genetic causes in the PAI spectrum. Understanding the genetic basis of adrenal disorders is key todevelop innovative therapies for patients with PAI. The promising progress made in congenital adrenal hyperplasia treatment brings newperspectives for personalized treatment in children with PAI. The aim of this review is to characterize recent advances in the geneticsand management of PAI in children.

Anahtar Kelime:

Konular: Endokrinoloji ve Metabolizma Pediatri

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

1. Perry R, Kecha O, Paquette J, Huot C, Van Vliet G, Deal C. Primary adrenal insufficiency in children: twenty years experience at the SainteJustine Hospital, Montreal. J Clin Endocrinol Metab 2005;90:3243- 3250. Epub 2005 Apr 5
2. Hsieh S, White PC. Presentation of primary adrenal insufficiency in childhood. J Clin Endocrinol Metab 2011;96:E925-928. Epub 2011 Apr 6
3. Guran T, Buonocore F, Saka N, Ozbek MN, Aycan Z, Bereket A, Bas F, Darcan S, Bideci A, Guven A, Demir K, Akinci A, Buyukinan M, Aydin BK, Turan S, Agladioglu SY, Atay Z, Abali ZY, Tarim O, Catli G, Yuksel B, Akcay T, Yildiz M, Ozen S, Doger E, Demirbilek H, Ucar A, Isik E, Ozhan B, Bolu S, Ozgen IT, Suntharalingham JP, Achermann JC1. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. J Clin Endocrinol Metab 2016;101:284- 292. Epub 2015 Nov 2
4. Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T. Genetic defects in pediatric-onset adrenal insufficiency in Japan. Eur J Endocrinol 2017;177:187-194. Epub 2017 May 25
5. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-291.
6. Hannah-Shmouni F, Chen W, Merke DP. Genetics of Congenital Adrenal Hyperplasia. Endocrinol Metab Clin North Am 2017;46:435-458. Epub 2017 Mar 1
7. Park J, Didi M, Blair J. The diagnosis and treatment of adrenal insufficiency during childhood and adolescence. Arch Dis Child 2016;101:860-865. Epub 2016 Apr 15
8. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet 2017;390:2194-2210. Epub 2017 May 30
9. Khattab A, Haider S, Kumar A, Dhawan S, Alam D, Romero R, Burns J, Li D, Estatico J, Rahi S, Fatima S, Alzahrani A, Hafez M, Musa N, Razzghy Azar M, Khaloul N, Gribaa M, Saad A, Charfeddine IB, Bilharinho de Mendonça B, Belgorosky A, Dumic K, Dumic M, Aisenberg J, Kandemir N, Alikasifoglu A, Ozon A, Gonc N, Cheng T, Kuhnle-Krahl U, Cappa M, Holterhus PM, Nour MA, Pacaud D, Holtzman A, Li S, Zaidi M, Yuen T, New MI. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Proc Natl Acad Sci USA 2017;114:E1933-E1940. Epub 2017 Feb 22
10. Turcu AF, Nanba AT, Chomic R, Upadhyay SK, Giordano TJ, Shields JJ, Merke DP, Rainey WE, Auchus RJ. Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency. Eur J Endocrinol 2016;174:601-609. Epub 2016 Feb 10
11. Turcu AF, Mallappa A, Elman MS, Avila NA, Marko J, Rao H, Tsodikov A, Auchus RJ, Merke DP. 11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab 2017;102:2701-2710.
12. Kyritsi EM, Sertedaki A, Chrousos G, Charmandari E. In: De Groot LJ, Chrousos G, Dungan K, Feingold KR, Grossman A, Hershman JM, Koch C, Korbonits M, McLachlan R, New M, Purnell J, Rebar R, Singer F, Vinik A, (eds). Familial Or Sporadic Adrenal Hypoplasia Syndrome. Endotext [Internet], 2015.
13. Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years’ experience. J Clin Endocrinol Metab 2006;91:3048-3054. Epub 2006 May
14. Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC. DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. Best Pract Res Clin Endocrinol Metab 2015;29:607-619. Epub 2015 Jul 14
15. Landau Z, Hanukoglu A, Sack J, Goldstein N, Weintrob N, Eliakim A, Gillis D, Sagi M, Shomrat R, Kosinovsky EB, Anikster Y. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. Clin Endocrinol (Oxf) 2010;72:448-454. Epub 2009 Jun 8
16. Durmaz E, Turkkahraman D, Berdeli A, Atan M, Karaguzel G, Akcurin S, Bircan I. A novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree. J Pediatr Endocrinol Metab 2013;26:551-555.
17. Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF Jr. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 1999;84:4501-4509.
18. Merke DP, Tajima T, Baron J, Cutler GB Jr. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N Engl J Med 1999;340:1248-1252.
19. Sohn JW, Oh Y, Kim KW, Lee S, Williams KW, Elmquist JK. Leptin and insulin engage specific PI3K subunits in hypothalamic SF1 neurons. Mol Metab 2016;5:669-679. eCollection 2016 Aug
20. El-Khairi R, Achermann JC. Steroidogenic factor-1 and human disease. Semin Reprod Med 2012;30:374-381. Epub 2012 Oct 8
21. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet 2016;25:3446-3453. Epub 2016 Jul 4
22. Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med 2017;19:367-376. Epub 2016 Aug 4
23. Colson C, Aubry E, Cartigny M, Rémy AA, Franquet H, Leroy X, Kéchid G, Lefèvre C, Besson R, Cools M, Spinoit AF, Sultan C, Manouvrier S, Philibert P, Ghoumid J. SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient’s management. Clin Genet 2017;92:99-103. Epub 2017 Feb 22
24. Cabrera-Salcedo C, Kumar P, Hwa V, Dauber A. IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations. Pediatr Endocrinol Rev 2017;14:289-297.
25. Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J Clin Invest 2017;127:1700-1713. Epub 2017 Mar 27
26. Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T1. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet 2016;48:792-797. Epub 2016 May 16
27. Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S. Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol 2017;13:92- 104. Epub 2016 Oct 7
28. Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nürnberg P, Mann NP, Banerjee R, Saka HN, Chapple JP, King PJ, Clark AJ, Metherell LA. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet 2012;44:740-742.
29. Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N, Clark AJ, Storr HL, Metherell LA.Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab 2014;99:E1556-1563. Epub 2014 Mar 6
30. Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. J Clin Invest 2017;127:942-953. Epub 2017 Feb 6
31. Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 2017;127:912-928. Epub 2017 Feb 6
32. Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T. Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. Hum Mutat 2017;38:365-372. Epub 2017 Mar 6
33. Porter J, Blair J, Ross RJ. Is physiological glucocorticoid replacement important in children? Arch Dis Child 2017;102:199-205. Epub 2016 Aug 31
34. Turcu AF, Auchus RJ. Novel treatment strategies in congenital adrenal hyperplasia. Curr Opin Endocrinol Diabetes Obes 2016;23:225-232.
35. Johannsson G, Bergthorsdottir R, Nilsson AG, Lennernas H, Hedner T, Skrtic S. Improving glucocorticoid replacement therapy using a novel modified-release hydrocortisone tablet: a pharmacokinetic study. Eur J Endocrinol 2009;161:119-130. Epub 2009 Apr 21
36. Johannsson G, Nilsson AG, Bergthorsdottir R, Burman P, Dahlqvist P, Ekman B, Engström BE, Olsson T, Ragnarsson O, Ryberg M, Wahlberg J, Biller BM, Monson JP, Stewart PM, Lennernäs H, Skrtic S. Improved cortisol exposure-time profile and outcome in patients with adrenal insufficiency: a prospective randomized trial of a novel hydrocortisone dual-release formulation. J Clin Endocrinol Metab 2012;97:473-481. Epub 2011 Nov 23
37. Giordano R, Guaraldi F, Marinazzo E, Fumarola F, Rampino A, Berardelli R, Karamouzis I, Lucchiari M, Manetta T, Mengozzi G, Arvat E, Ghigo E. Improvement of anthropometric and metabolic parameters, and quality of life following treatment with dual-release hydrocortisone in patients with Addison’s disease. Endocrine 2016;51:360-368. Epub 2015 Jul 17
38. Nilsson AG, Bergthorsdottir R, Burman P, Dahlqvist P, Ekman B, Engström BE, Ragnarsson O, Skrtic S, Wahlberg J, Achenbach H, Uddin S, Marelli C, Johannsson G. Long-term safety of once-daily, dual-release hydrocortisone in patients with adrenal insufficiency: a phase 3b, open-label, extension study. Eur J Endocrinol 2017;176:715-725. Epub 2017 Mar 14
39. Jones CM, Mallappa A, Reisch N, Nikolaou N, Krone N, Hughes BA, O’Neil DM, Whitaker MJ, Tomlinson JW, Storbeck KH, Merke DP, Ross RJ, Arlt W. Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab 2017;102:1797-1806.
40. Neumann U, Whitaker MJ, Wiegand S, Krude H, Porter J, Davies M, Digweed D, Voet B, Ross RJ, Blankenstein O. Absorption and tolerability of taste-masked hydrocortisone granules in neonates, infants and children under 6 years of age with adrenal insufficiency. Clin Endocrinol (Oxf) 2018;88:21-29. Epub 2017 Sep 7
41. Oksnes M, Björnsdottir S, Isaksson M, Methlie P, Carlsen S, Nilsen RM, Broman JE, Triebner K, Kämpe O, Hulting AL, Bensing S, Husebye ES, Løvås K. Continuous subcutaneous hydrocortisone infusion versus oral hydrocortisone replacement for treatment of addison’s disease: a randomized clinical trial. J Clin Endocrinol Metab 2014;99:1665-1674. Epub 2014 Feb 11
42. Nella AA, Mallappa A, Perritt AF, Gounden V, Kumar P, Sinaii N, Daley LA, Ling A, Liu CY, Soldin SJ, Merke DP. A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab 2016;101:4690-4698. Epub 2016 Sep 28
43. Al Nofal A, Bancos I, Benkhadra K, Ospina NM, Javed A, Kapoor E, Muthusamy K, Brito JP, Turcu AF, Wang Z, Prokop L, Erickson DZ, Lteif AN, Natt N, Murad MH. Glucocorticoid Replacement Regimens In Chronic Adrenal Insufficiency: A Systematic Review And MetaAnalysis. Endocr Pract 2017;23:17-31. Epub 2016 Sep 15
44. Auchus RJ, Buschur EO, Chang AY, Hammer GD, Ramm C, Madrigal D, Wang G, Gonzalez M, Xu XS, Smit JW, Jiao J, Yu MK. Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency. J Clin Endocrinol Metab 2014;99:2763-2770. Epub 2014 Apr 29
45. Turcu AF, Spencer-Segal JL, Farber RH, Luo R, Grigoriadis DE, Ramm CA, Madrigal D, Muth T, O’Brien CF, Auchus RJ. Single-Dose Study of a Corticotropin-Releasing Factor Receptor-1 Antagonist in Women With 21-Hydroxylase Deficiency. J Clin Endocrinol Metab 2016;101:1174- 1180. Epub 2016 Jan 11

APA	GURAN T (2017). Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. , 9 - 22.
Chicago	GURAN TULAY Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. (2017): 9 - 22.
MLA	GURAN TULAY Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. , 2017, ss.9 - 22.
AMA	GURAN T Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. . 2017; 9 - 22.
Vancouver	GURAN T Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. . 2017; 9 - 22.
IEEE	GURAN T "Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children." , ss.9 - 22, 2017.
ISNAD	GURAN, TULAY. "Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children". (2017), 9-22.

APA	GURAN T (2017). Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. Journal of Clinical Research in Pediatric Endocrinology, 9(2 (Özel)), 9 - 22.
Chicago	GURAN TULAY Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. Journal of Clinical Research in Pediatric Endocrinology 9, no.2 (Özel) (2017): 9 - 22.
MLA	GURAN TULAY Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. Journal of Clinical Research in Pediatric Endocrinology, vol.9, no.2 (Özel), 2017, ss.9 - 22.
AMA	GURAN T Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. Journal of Clinical Research in Pediatric Endocrinology. 2017; 9(2 (Özel)): 9 - 22.
Vancouver	GURAN T Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children. Journal of Clinical Research in Pediatric Endocrinology. 2017; 9(2 (Özel)): 9 - 22.
IEEE	GURAN T "Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children." Journal of Clinical Research in Pediatric Endocrinology, 9, ss.9 - 22, 2017.
ISNAD	GURAN, TULAY. "Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children". Journal of Clinical Research in Pediatric Endocrinology 9/2 (Özel) (2017), 9-22.