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Endocrine Diseases and Disorders of Thyroid Function in Newborns

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Neonatology

Abstract

Congenital hypopituitarism results from a deficiency of any or all hormones secreted by the anterior pituitary gland or by the posterior pituitary gland. Reduced cortisol and/or aldosterone production may be the consequence of primary cortical adrenal insufficiency or damage; isolated cortisol insufficiency may be caused by pituitary or hypothalamic dysfunction (ACTH or CRF deficiency). Neonatal hypoglycemia is frequent in neonates, especially in those of low birth weights. Hypoglycemia is usually transient and resolves in the first 72 h of life; symptoms are absent or nonspecific. Hyperglycemia may be due to impaired glucose homeostasis, iatrogenic causes, stress, and neonatal diabetes mellitus; it is often asymptomatic and secondary to other severe diseases.

Neonatal hypocalcemia affects 30% of very low birth weight infants. Clinical presentation is nonspecific and therapy may be by oral or intravenous supplementation. Hypercalcemia is defined as an ionized calcium concentration >1.36 mmol/L or total calcium concentration >2.75 mmol/L. Moderate to severe hypercalcemia requires prompt intervention.

Congenital hypothyroidism is the most common endocrine disorder in the neonatal age range, causing significant neurointellectual impairment. Plasma thyroid hormone levels are correlated to gestational age, and preterm infants have lower T3, T4, and FT4 values than term infants.

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References

  • Abeillon-du Payrat J, Chikh K, Bossard N et al (2014) Predictive value of maternal second-generation thyroid-binfing inhibitory immunoglobulin assay for neonatal autoimmune hyperthyroidism. Eur J Endocrinol 171:451–460

    Article  PubMed  CAS  Google Scholar 

  • Abramowicz MJ, Duprez L, Parma J et al (1997) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 99:3018–3024

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Aguilar-Bryan L, Bryan J (2008) Neonatal diabetes mellitus. Endocr Rev 29:265–291

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Alatzoglou KS, Dattani MT (2009) Genetic forms of hypopituitarism and their manifestation in the neonatal period. Early Hum Dev 85:705–712

    Article  CAS  PubMed  Google Scholar 

  • American Academy of Pediatrics, Rose SR, Section on Endocrinology and Committee on Genetics et al (2006) Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 117:2290–2303

    Article  Google Scholar 

  • Arai K, Chrousos G (2013) Aldosterone deficiency and resistance. In: De Groot LJ, Beck-Peccoz P, Chrousos G, Dungan K, Grossman A, Hershman JM, Koch C, McLachlan R, New M, Rebar R, Singer F, Vinik A, Weickert MO (eds) Endotext [Internet], South Dartmouth. http://www.ncbi.nlm.nih.gov/pubmed/25905305

  • Ares S, Escobar-Morreale HF, Quero J et al (1997) Neonatal hypothyroxinemia: effects of iodine intake and premature birth. J Clin Endocrinol Metab 82:1704–1712

    PubMed  Google Scholar 

  • Bakker B, Bikker H, Vulsma T et al (2000) Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update). J Clin Endocrinol Metab 85:3708–3712

    Article  CAS  Google Scholar 

  • Balsamo A, Antelli A, Baldazzi L et al (2005) A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Am J Med Genet A 135:292–296

    Article  PubMed  Google Scholar 

  • Balsamo A, Cicognani A, Gennari M et al (2007) Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. Eur J Endocrinol 156:249–256

    Article  CAS  PubMed  Google Scholar 

  • Bamforth JS, Hughes IA, Lazarus JH et al (1989) Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet 26:49–51

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Besancon A, Beltrand J, Le Gac I et al (2014) Management of neonates born to women with Graves’ disease: a color study. Eur J Endocrinol 170:855–862

    Article  CAS  PubMed  Google Scholar 

  • Biswas S, Buffery J, Enoch H et al (2003) Pulmonary effects of triiodothyronine (T3) and hydrocortisone (HC) supplementation in preterm infants less than 30 weeks gestation: results of the THORN trial–thyroid hormone replacement in neonates. Pediatr Res 53:48–56

    CAS  PubMed  Google Scholar 

  • Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J (2015) Expert consensus document: European consensus statement on congenital hypogonadotropic hypogonadism – pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 11(9):547–564. http://www.ncbi.nlm.nih.gov/pubmed/26194704

    Article  PubMed  Google Scholar 

  • Bongers-Schokking JJ, de Muinck Keizer-Schrama S (2005) Influence of timing and dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism. J Pediatr 147:768–774

    Article  CAS  PubMed  Google Scholar 

  • Bottino M, Cowett RM, Sinclair JC (2009) Interventions for treatment of neonatal hyperglycemia in very low birth weight infants. Cochrane Database Syst Rev 1:CD007453

    Google Scholar 

  • Bowl MR, Nesbit MA, Harding B et al (2005) An interstitial deletion- insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. J Clin Invest 115:2822–2831

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bringhurst ER, Demay MB, Kronenberg HM (2008) Hormones and disorders of mineral metabolism. In: Kronenberg HM, Melmed S, Polonsky KS et al (eds) Williams textbook of endocrinology, 11th edn. Saunders, Philadelphia, pp 1241–1249

    Google Scholar 

  • Bubuteishvili L, Garel C, Czernichow P, Léger J (2003) Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism. J Pediatr 143:759–764

    Article  PubMed  Google Scholar 

  • Calaciura F, Motta RM, Miscio G et al (2002) Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia. J Clin Endocrinol Metab 87:3209–3214

    Article  CAS  PubMed  Google Scholar 

  • Canadian Paediatric Society (2004) Screening guidelines for newborns at risk for low blood glucose. Paediatr Child Health 9:723–740

    Article  Google Scholar 

  • Carranza D, Van Vliet G, Polak M (2006) Congenital hypothyroidism. Ann Endocrinol (Paris) 67:295–302

    Article  CAS  Google Scholar 

  • Cassio A, Cacciari E, Cicognani A et al (2003) Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine? Pediatrics 111:1055–1060

    Article  PubMed  Google Scholar 

  • Cassio A, Corbetta C, Antonozzi I et al (2013a) The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance. J Endocrinol Investig 36:195–203

    CAS  Google Scholar 

  • Cassio A, Nicoletti A, Rizzello A et al (2013b) Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment. J Clin Res Pediatr Endocrinol 5(Suppl 1):XX

    Google Scholar 

  • Cassio A, Cantasano A, Bal MO (2014) Ipotiroidismo congenito. Prospect Pediatr 44:2–7

    Google Scholar 

  • Cassio A, Bal MO, Bettocchi I et al (2015) Thyroid enlargement from newborn to adolescent. In: Bona G et al (eds) Thyroid diseases in childhood: recent advances from basic science to clinical practice. Springer International Publishing, Swithzerland

    Google Scholar 

  • Castanet M, Polak M, Bonaiti-Pellié C et al (2001) Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 86:2009–2014

    Article  CAS  PubMed  Google Scholar 

  • Castanet M, Marinovic D, Polak M, Léger J (2010) Epidemiology of thyroid dysgenesis: the familial component. Horm Res Paediatr 73(4):231–237

    Article  CAS  PubMed  Google Scholar 

  • Cavarzere P, Camilot M, Popa FI et al (2016) Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants. Incidence, diagnosis and mangement. Eur J Endocrinol 175:395–402

    Article  CAS  PubMed  Google Scholar 

  • Cerbone M, Capalbo D, Wasniewska M et al (2014) Cardiovascular risk factors in children with long-standing untreated idiopathic subclinical hypothyroidism. J Clin Endocrinol Metab 99:2697–2703

    Article  CAS  PubMed  Google Scholar 

  • Cerbone M, Capalbo D, Wasniewska M et al (2016) Effect of L-thyroxine treatment on early markers of atherosclerotic disease in childrenwith subclinical hypothyroidism. Eur J Endocrinol 175:11–19

    Article  CAS  PubMed  Google Scholar 

  • Chanoine JP, Pardou A, Bourdoux P, Delange F (1988) Withdrawal of iodinated disinfectants at delivery decreases the recall rate at neonatal screening for congenital hypothyroidism. Arch Dis Child 63:1297–1298

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chiovato L, Lapi P, Santini F et al (1994) Thyroid autoimmunity and congenital hypothyroidism. Ann Ist Super Sanita 30:317–323

    CAS  PubMed  Google Scholar 

  • Chung TT, Monson JP (2015) Hypopituitarism. In: De Groot LJ, Beck-Peccoz P, Chrousos G, Dungan K, Grossman A, Hershman JM, Koch C, McLachlan R, New M, Rebar R, Singer F, Vinik A, Weickert MO (eds) Endotext [Internet], South Dartmouth. http://www.ncbi.nlm.nih.gov/pubmed/25905222

  • Chung TT, Chan LF, Metherell LA, Clark AJ (2010) Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol 72(5):589–594. http://www.ncbi.nlm.nih.gov/pubmed/19558534

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Colombo C, Porzio O, Liu M et al (2008) Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP). Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. J Clin Invest 118:2148–2156

    CAS  PubMed  PubMed Central  Google Scholar 

  • Committee on Fetus and Newborn, Adamkin DH (2011) Postnatal glucose homeostasis in late-preterm and term infants. Pediatrics 127:575–579

    Article  Google Scholar 

  • Corzo D, Gibson W, Johnson K et al (2002) Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet 70:1520–1531

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Coulter CL (2004) Functional biology of the primate fetal adrenal gland: advances in technology provide new insight. Clin Exp Pharmacol Physiol 31:475–484

    Article  CAS  PubMed  Google Scholar 

  • Dabrowski E, Kadakia R, Zimmerman D (2016) Diabetes insipidus in infants and children. Best Pract Res Clin Endocrinol Metab 30(2):317–328. http://www.ncbi.nlm.nih.gov/pubmed/27156767

    Article  Google Scholar 

  • Daneman D, Daneman A (2005) Diagnostic imaging of the thyroid and adrenal glands in childhood. Endocrinol Metab Clin N Am 34:745–768

    Article  Google Scholar 

  • Davis LE, Lucas MJ, Hankins GD et al (1989) Thyrotoxicosis complicating pregnancy. Am J Obstet Gynecol 160:63–70

    Article  CAS  PubMed  Google Scholar 

  • De Felice M, Di Lauro R (2004) Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 25:722–746

    Article  PubMed  CAS  Google Scholar 

  • De Felice M, Di Lauro R (2007) Murine models for the study of thyroid gland development. Endocr Dev 10:1–14

    PubMed  Google Scholar 

  • De Felice M, Di Lauro R (2011) Intrinsic and extrinsic factors in thyroid gland development: an update. Endocrinology 152:163

    Article  CAS  Google Scholar 

  • De Felice M, Di Lauro R (2015) Thyroid embryogenesis. In: Bona G et al (eds) Thyroid diseases in childhood: recent advances from basic science to clinical practice. Springer International Publishing, Switzerland

    Google Scholar 

  • De Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, Marelli F, Bonomi M, Cassio A, Larizza D, Moro M, Radetti G, Salerno M, Ardissino D, Weber G, Gentilini D, Guizzardi F, Duga S, Persani L (2017) A frequent oligogenic involvement in congenital hypothyroidism. Hum Mol Genet 26(13):2507–2514. https://doi.org/10.1093/hmg/ddx145. https://www.ncbi.nlm.nih.gov/pubmed/28444304

    Article  CAS  PubMed  Google Scholar 

  • Delange F, Bürgi H, Chen ZP, Dunn JT (2002) World status of monitoring iodine deficiency disorders control programs. Thyroid 12:915–924

    Article  PubMed  Google Scholar 

  • Devos H, Rodd C, Gagne N et al (1999) A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations. J Clin Endocrinol Metab 84:2502–2506

    Article  CAS  PubMed  Google Scholar 

  • Ding C, Buckingham B, Levine MA (2001) Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest 108:1215–1220

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Djemli A, Fillion M, Belgoudi J et al (2004) Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. Clin Biochem 37:818–822

    Article  CAS  PubMed  Google Scholar 

  • DuPrez L, Parma J, Van Sande J et al (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyprthyroidism. Nat Genet 7:396–401

    Article  CAS  PubMed  Google Scholar 

  • Elliott M, Bayly R, Cole T et al (1994) Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 46:168–174

    Article  CAS  PubMed  Google Scholar 

  • Ellis PD, van Nostrand AW (1977) The applied anatomy of thyroglossal tract remnants. Laryngoscope 87:765–770

    Article  CAS  PubMed  Google Scholar 

  • de Escobar GM, Obregón MJ, del Rey FE (2004) Maternal thyroid hormones early in pregnancy and fetal brain development. Best Pract Res Clin Endocrinol Metab 18:225–248

    Article  PubMed  CAS  Google Scholar 

  • Etling N, Padovani E, Gehin-Fouque F, Tato L (1984) Serum and urine thyroid hormone levels in healthy preterm and small for date infants on the first and fifth day of life. Hely Paediatr Acta 39:223–230

    CAS  Google Scholar 

  • Eugster EA, LeMay D, Zerin JM, Pescovitz OH (2004) Definitive diagnosis in children with congenital hypothyroidism. J Pediatr 144:643–647

    Article  PubMed  Google Scholar 

  • Fagman H, Amendola E, Parrillo L et al (2011) Gene expression profi ling at early organogenesis reveals both common and diverse mechanisms in foregut patterning. Dev Biol 359:163

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Farfel Z, Bourne H, Iiri T (1999) The expanding spectrum of G protein disease. N Engl J Med 340:1012–1020

    Article  CAS  PubMed  Google Scholar 

  • Filippi L, Pezzati M, Poggi C et al (2007) Dopamine versus dobutamine in very low birthweight infants: endocrine effects. Arch Dis Child Fetal Neonatal Ed 92:F367–F371

    Article  PubMed  PubMed Central  Google Scholar 

  • Fisher DA (1998) Thyroid function in premature infants. The hypothyroxinemia of prematurity. Clin Perinatol 25:999–1014

    Article  CAS  PubMed  Google Scholar 

  • Fisher DA, Dussault JH, Sack J, Chopra J (1977) Ontogenesis of hypothalamic-pituitary-thyroid function and metabolism in man, sheep and rat. Recent Prog Horm Res 33:59–116

    Google Scholar 

  • Fourtner SH, Stanley CA (2004) Genetic and nongenetic forms of hyperinsulinism in neonates. NeoReviews 5:e370–e376

    Article  Google Scholar 

  • Friesema EC, Grueters A, Biebermann H et al (2004) Association between mutations in a thyroid hormone transporter and severe Xlinked psychomotor retardation. Lancet 364:1435–1437

    Article  CAS  PubMed  Google Scholar 

  • Gharib H, Tuttle RM, Baskin HJ et al (2005) Subclinical thyroid dysfunction: a joint statement on management from the American Association of Clinical Endocrinologists, the American Thyroid Association, and the Endocrine Society. J Clin Endocrinol Metab 90:581–587

    Article  CAS  PubMed  Google Scholar 

  • Ghirri P, Bottone U, Coccoli L et al (1999) Symptomatic hypercalcemia in the first months of life: calcium-regulating hormones and treatment. J Endocrinol Investig 22:349–353

    Article  CAS  Google Scholar 

  • Ghirri P, Ladaki C, Bartoli A et al (2007) Low birth weight for gestational age associates with reduced glucose concentrations at birth, infancy and childhood. Horm Res 67:123–131

    CAS  PubMed  Google Scholar 

  • Glinoer D (2001) Potential consequences of maternal hypothyroidism on the offspring: evidence and implications. Horm Res 55:109–114

    CAS  PubMed  Google Scholar 

  • Goldsmit GS, Valdes M, Herzovich V et al (2011) Evaluation and clinical application of changes in thyroid hormone and TSH levels in critically ill full-term newborns. J Perinat Med 39:59–64

    Article  CAS  PubMed  Google Scholar 

  • Goto M, Piper Hanley K et al (2006) In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. J Clin Invest 116:953–960

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Grüters A, Krude H (2007) Update on the management of congenital hypothyroidism. Horm Res 68(Suppl 5):107–111

    PubMed  Google Scholar 

  • Guran T, Buonocore F, Saka N et al (2016) Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort. J Clin Endocrinol Metab 101(1):284–292. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701852/

    Article  CAS  Google Scholar 

  • Haddow JE, Palomaki GE, Allan WC et al (1999) Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child. N Engl J Med 341:549–555

    Article  CAS  PubMed  Google Scholar 

  • Hanley NA, Arlt W (2006) The human fetal adrenal cortex and the window of sexual differentiation. Trends Endocrinol Metab 17:391–397

    Article  CAS  PubMed  Google Scholar 

  • Hanukoglu A, Perlman K, Shamis I et al (2001) Relationship of etiology to treatment in congenital hypothyroidism. J Clin Endocrinol Metab 86:186–191

    Article  CAS  PubMed  Google Scholar 

  • Harris D, Weston P, Battin M, Harding JE (2013) Dextrose gel for treating neonatal hypoglycemia: a randomized placebo-controlled trial (The sugar babies study). Lancet 382:2077–2083

    Article  CAS  PubMed  Google Scholar 

  • Hoyes AD, Kershaw DR (1985) Anatomy and development of the thyroid gland. Ear Nose Throat J 64:318–333

    CAS  PubMed  Google Scholar 

  • Ibrahim A, Kirby G et al (2014) Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics 6(1):11

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • John R, Bamforth FJ (1987) Serum free thyroxine and free triiodothyronine concentrations in healthy fullterm, preterm and sick preterm neonates. Ann Clin Biochem 24:461–465

    Article  PubMed  Google Scholar 

  • van der Kaay DC, Wasserman JD, Palmert MR (2016) Management of neonates born to mothers with Graves‘ diease. Pediatrics 137:e20151878

    Article  PubMed  Google Scholar 

  • Karakoc-Aydiner E, Turan S, Akpinar I et al (2012) Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasography and scintigraphy. Eur J Endocrinol 166:43–48

    Article  CAS  PubMed  Google Scholar 

  • Karras S, Krassas GE (2012) Breastfeeding and antithyroid drugs: a view from within. Eur Thyroid J 1:30–33

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Karras S, Tzotzas T, Kaltsas T et al (2010) Pharmacological treatment of hyperthyroidism during lactation: review of the literature and novel data. Pediatr Endocrinol Rev 8:25–33

    PubMed  Google Scholar 

  • Kempers MJ, van Tijn DA, van Trotsenburg AS et al (2003) Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed. J Clin Endocrinol Metab 88:5851–5857

    Article  CAS  PubMed  Google Scholar 

  • Kempná P, Flück CE (2008) Adrenal gland development and defects. Best Pract Res Clin Endocrinol Metab 22:77–93

    Article  PubMed  CAS  Google Scholar 

  • Kester MH, Martinez de Mena R, Obregon MJ et al (2004) Iodothyronine levels in the human developing brain: major regulatory roles of iodothyronine deiodinases in different areas. J Clin Endocrinol Metab 89:3117–3128

    Article  CAS  PubMed  Google Scholar 

  • Kohn LD, Suzuki K, Hoffman WH et al (1997) Characterization of monoclonal thyroid-stimulating and thyrotropin bindinginhibiting autoantibodies from a Hashimoto’s patient whose children had intrauterine and neonatal thyroid disease. J Clin Endocrinol Metab 82:3998–4009

    CAS  PubMed  Google Scholar 

  • Krude H, Biebermann H, Kroh HP et al (1997) Congenital hyperthyroidism. Exp Clin Endocrinol Diabetes 1o5(Suppl 4):6–11

    Google Scholar 

  • Krude H, Schütz B, Biebermann H et al (2002) Choreoathetosis, hypothyroidism and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 109:475–480

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kusakabe T, Kawaguchi A, Hoshi N et al (2006) Thyroid-specifi c enhancer-binding protein/NKX2.1 is required for the maintenance of ordered architecture and function of the differentiated thyroid. Mol Endocrinol 20:1796–1809

    Article  CAS  PubMed  Google Scholar 

  • LaFranchi S (1999) Thyroid function in the preterm infant. Thyroid 9:71–78

    Article  CAS  PubMed  Google Scholar 

  • LaFranchi SH, Austin J (2007) How should we be treating children with congenital hypothyroidism? J Pediatr Endocrinol Metab 20:559–578

    Article  CAS  PubMed  Google Scholar 

  • Langer M, Modi BP, Agus M (2006) Adrenal insufficiency in the critically ill neonate and child. Curr Opin Pediatr 18:448–453

    Article  PubMed  Google Scholar 

  • Léger J (2016) Management of fetal and neonatal Graves disease. Horm Res Paediatr 87:1–6

    Article  PubMed  CAS  Google Scholar 

  • Léger J, Larroque B, Norton J, Association Française pour le Dépistage et la Prévetion des Handicaps de l’Enfant (2001) Influence of severity of congenital hypothyroidism and adequacy of treatment on school achievement in young adolescents: a population-based cohort study. Acta Paediatr 90:1249–1256

    Article  PubMed  Google Scholar 

  • Leger J, Olivieri A, Donaldson M et al (2014) European society for paediatric endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab 99:363–384

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Leonardi D, Polizzotti N, Carta A et al (2008) Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. J Clin Endocrinol Metab 93:2679–2685

    Article  CAS  PubMed  Google Scholar 

  • Lucas A, Rennie J, Baker BA, Morley R (1988) Low plasma triiodo- thyronine concentrations and outcome in preterm infants. Arch Dis Child 63:1201–1206

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Luton D, Fried D, Sibony O et al (1997) Assessment of fetal thyroid function by colored Doppler echography. Fetal Diagn Ther 12:24–27

    Article  CAS  PubMed  Google Scholar 

  • Luton D, Le Gac I, Vuillard E et al (2005) Management of Graves’ disease during pregnancy: the key role of fetal thyroid gland monitoring. J Clin Endocrinol Metab 90:6093–6098

    Article  CAS  PubMed  Google Scholar 

  • Mannstadt M, Clarke BL et al (2013) Efficacy and safety of recombinant human parathyroid hormone (1–84) in hypoparathyroidism (REPLACE): a double-blind, placebo-controlled, randomised, phase 3 study. Lancet Diabetes Endocrinol 1(4):275–283

    Article  CAS  PubMed  Google Scholar 

  • Marcialis MA, Dessì A, Contu S, Vassilios F (2009) Nephrogenic syndrome of inappropriate antidiuresis: a novel cause of euvolemic hypotonic hyponatremia in newborns. Diagnosis and practical management. J Matern Fetal Neonatal Med 22(sup 3):67–71. https://doi.org/10.1080/14767050903196037

    Article  CAS  Google Scholar 

  • Matsuura N, Yamada Y, Nohara Y et al (1980) Familial neonatal transient hypothyroidism due to maternal TSH-binding inhibitor immunoglobulins. N Engl J Med 303:738–741

    Article  CAS  PubMed  Google Scholar 

  • McKinlay CJ, Alsweiler JM, Ansell JM, Anstice NS, Chase JG, Gamble GD, Harris DL, Jacobs RJ, Jiang Y, Paudel N, Signal M, Thompson B, Wouldes TA, Yu TY, Harding JE, CHYLD Study Group (2015) Neonatal glycemia and neurodevelopmental outcomes at 2 years. N Engl J Med 373(16):1507–1518

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Meeus L, Gilbert B, Rydlewski C et al (2004) Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in place, normalsized thyroid. J Clin Endocrinol Metab 89:4285–4291

    Article  CAS  Google Scholar 

  • Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, Chong WK, Dattani MT (2009) Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. Clin Endocrinol 71(3):376–382. http://www.ncbi.nlm.nih.gov/pubmed/19320653

    Article  PubMed  Google Scholar 

  • Meller J, Zappel H, Conrad M et al (1997) Diagnostic value of 123- iodine scintigraphy and perchlorate discharge test in the diagnosis of congenital hypothyroidism. Exp Clin Endocrinol Diabetes 105(Suppl 4):24–27

    CAS  PubMed  Google Scholar 

  • Mengreli C, Maniati-Christidi M, Kanaka-Gantenbein C et al (2003) Transient congenital hypothyroidism due to maternal autoimmune thyroid disease. Hormones 2:113–119

    Article  PubMed  Google Scholar 

  • Metzger BE, Persson B, HAPO Study Cooperative Research Group et al (2010) Hyperglycemia and adverse pregnancy outcome study: neonatal glycemia. Pediatrics 126:e1545–e1552

    Article  PubMed  Google Scholar 

  • Monti S, Nicoletti A, Cantasano A et al (2015) NKX2.1-related disorders: a novel mutation with mild clinical presentation. Ital J Pediatr 41:45–49

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Moreno JC, Visser TJ (2007) New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. Endocr Dev 10:99–117

    Article  CAS  PubMed  Google Scholar 

  • Moreno JC, Bikker H, Kempers MI et al (2002) Inactivating mutations in the gene for thyroid oxidaxe 2 (DUOX2) and congenital hypothyroidism. N Engl J Med 347:95–102

    Article  CAS  PubMed  Google Scholar 

  • Morreale de Escobar G, Obregón MJ, Escobar del Rey F (2000) Is neuropsychological development related to maternal hypothyroidism or to maternal hypothyroxinemia? J Clin Endocrinol Metab 85:3975–3987

    CAS  PubMed  Google Scholar 

  • Murphy N, Hume R, van Toor H et al (2004) The hypothalamic-pituitary-thyroid axis in preterm infants; changes in the first 24 hours of postnatal life. J Clin Endocrinol Metab 89:2824–2831

    Article  CAS  Google Scholar 

  • Mussa A et al (2016) Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. Eur J Med Genet 59(1):52–64

    Article  PubMed  Google Scholar 

  • Muzza M, Rabbiosi S, Vigone MC et al (2014) The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. J Clin Endocrinol Metab 99(3):E544–E553

    Article  CAS  Google Scholar 

  • Nicoletti A, Bal M, De Marco G et al (2009) Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 94:4187–4194

    Article  CAS  PubMed  Google Scholar 

  • O’Rahilly R (1983) The timing and sequence of events in the development of the human endocrine system during the embryonic period proper. Anat Embryol 166:439–451

    Article  Google Scholar 

  • Ogilvy-Stuart AL (2002) Neonatal thyroid disorders. Arch Dis Child Fetal Neonatal Ed 87:165–171

    Article  Google Scholar 

  • Ogilvy-Stuart A, Midgerly P (2006) Hypocalcemia. In: Practical neonatal endocrinology. Cambridge University Press, New York, pp 133–142

    Chapter  Google Scholar 

  • Ogilvy-Stuart A, Midgley P (2006) Hypernatraemia. In: Practical neonatal endocrinology. Cambridge University Press, New York, p 115

    Chapter  Google Scholar 

  • Olivieri A (2015) Epidemiology of congenital hypothyroidism. In: Bona G et al (eds) Thyroid diseases in childhood: recent advances from basic science to clinical practice. Springer International Publishing, Swithzerland

    Google Scholar 

  • Olivieri A, Stazi MA, Mastroiacovo P et al (2002) A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian registry for congenital hypothyroidism (1991–1998). J Clin Endocrinol Metab 87:557–562

    CAS  Google Scholar 

  • Olivieri A, Medda E, De Angelis S et al (2007) High risk of congenital hypothyroidism in multiple pregnancies. J Clin Endocrinol Metab 92:3141–3147

    Article  CAS  PubMed  Google Scholar 

  • Olivieri A, Fazzini C, Medda E et al (2015) Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening. Horm Res Paediatr 83:86–93

    Article  CAS  PubMed  Google Scholar 

  • Opitz R, Antonica F, Costagliola S (2013) New model systems to illuminate thyroid organogenesis. Part I: an update on the zebrafi sh toolbox. Eur Thyroid J 2:229

    Article  PubMed  PubMed Central  Google Scholar 

  • Osborn DA, Hunt RW (2007) Postnatal thyroid hormones for preterm infants with transient hypothyroxinaemia. Cochrane Database Syst Rev 1:CD005945

    Google Scholar 

  • Palos F, García-Rendueles ME, Araujo-Vilar D et al (2008) Pendred syndrome in two Galiacian families: insights into clinical phenotypes through cellular, genetic, and molecular studies. J Clin Endocrinol Metab 93:267–277

    Article  CAS  PubMed  Google Scholar 

  • Paul DA, Leef KH, Stefano JL, Bartoshesky L (1998) Low serum thyroxine on initial newborn screening is associated with intraventricular hemorrhage and death in very low birth weight infants. Pediatrics 101:903–907

    Article  CAS  PubMed  Google Scholar 

  • Pearce EN (2006) Diagnosis and management of thyrotoxicosis. BMJ 332:1369–1373

    Article  PubMed  PubMed Central  Google Scholar 

  • Pearce SH, Williamson C, Kifor O et al (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium- sensing receptor. N Engl J Med 335:1115–1122

    Article  CAS  PubMed  Google Scholar 

  • Perry RJ, Maroo S, Maclennan AC et al (2006) Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Arch Dis Child 91:972–976

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Persani L (2012) Central hypothyroidism: pathogenetic, diagnostic, and therapeuticchallanges. J Clin Endocrinol Metab 97:3068–3078

    Google Scholar 

  • Peters CJ, Hindmarsh PC (2007) Management of neonatal endocrinopathies – best practice guidelines. Early Hum Dev 83:553–561

    Article  CAS  PubMed  Google Scholar 

  • Polak M, Sura-Trueba S, Chauty A et al (2004) Molecular mechanisms of thyroid dysgenesis. Horm Res 62(Supp 13):14–21

    CAS  PubMed  Google Scholar 

  • Polak M, Legac I, Vuillard E et al (2006) Congenital hyperthyroidism: the fetus as a patient. Horm Res 65:235–242

    CAS  PubMed  Google Scholar 

  • Rabbiosi S, Vigone MC, Cortinovis F et al (2013) Congenital hypothyroidism with eutopic thyroid gland. Analysis of clinical and biochemical features at diagnosis and after re-evaluation. J Clin Endocrinol Metab 98:1395–1402

    Article  CAS  PubMed  Google Scholar 

  • Ranzini AC, Ananth CV, Smulian JC et al (2001) Ultrasonography of the fetal thyroid: nomograms based on biparietal diameter and gestational age. J Ultrasound Med 20:613–617

    Article  CAS  PubMed  Google Scholar 

  • Rapaport R, Rose SR, Freemark M (2001) Hypothyroxinemia in the preterm infants: the benefits and risks of thyroxine treatment. J Pediatr 139:182–188

    Article  CAS  PubMed  Google Scholar 

  • Refetoff S, Weiss RE, Usala SJ (1993) The syndromes of resistance to thyroid hormone. Endocr Rev 14:348–399

    CAS  PubMed  Google Scholar 

  • Refetoff S, Dumont J, Vassart G (2001) Thyroid disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York

    Google Scholar 

  • Richard K, Hume R, Kaptein E et al (1998) Ontogeny of iodothyronine deiodinases in human liver. J Clin Endocrinol Metab 83:2868–2874

    CAS  PubMed  Google Scholar 

  • Rochiccioli P, Rogé B, Alexandre F, Tauber MT (1992) School achievement in children with hypothyroidism detected at birth and search for predictive factors. Horm Res 38:236–240

    Article  CAS  PubMed  Google Scholar 

  • Rovelli R, Vigone MC, Giovanettoni C et al (2010) Newborn of mothers affected by autoimmune thyroiditis: the importance of thyroid function monitoring in the fi rst months of life. Ital J Pediatr 36:24

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Rovet JF (2002) Congenital hypothyroidism: an analysis of persisting deficits and associated factors. Child Neuropsychol 8:150–162

    Article  PubMed  Google Scholar 

  • Rozance PJ, Hay WW Jr (2010) Neonatal hyperglycemia. NeoReviews 11:632–639

    Article  Google Scholar 

  • Rivkees SA, Szarfarm A (2010) Dissimilar hepatotoxicity profiles of propylthiouracil and methimazole in children. J Clin Endocrinol Metab 95(7):3260–7. https://doi.org/10.1210/jc.2009-2546. Epub 2010 Apr 28

    Article  CAS  Google Scholar 

  • Salerno M, Capalbo D, Cerbone M et al (2016) Subclinical hypothyroidism in childhood-current knowledge and open issues. Nat Rev Endocrinol 12:734–746

    Article  CAS  PubMed  Google Scholar 

  • Samedi VM, Yusuf K, Yee W, Obaid H, Al Awad EH (2014) Neonatal hypercalcemia secondary to subcutaneous fat necrosis successfully treated with pamidronate: a case series and literature review. AJP Rep 4(2):e93–e96

    Article  PubMed  PubMed Central  Google Scholar 

  • Santini F, Chiovato L, Ghirri P et al (1999) Serum iodothyronines in the human fetus and the newborn: evidence for an important role of placenta in fetal thyroid hormone homeostasis. J Clin Endocrinol Metab 84:493–498

    CAS  PubMed  Google Scholar 

  • Schoen EJ, Clapp W, To TT, Fireman BH (2004) The key role of newborn thyroid scintigraphy with isotopic iodide (1231) in defining and managing congenital hypothyroidism. Pediatrics 114:e683–e688

    Article  PubMed  Google Scholar 

  • Shenker A, Weinstein LS, Moran A et al (1993) Severe endocrine and non-endocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr 123:509–518

    Article  CAS  PubMed  Google Scholar 

  • Simoneau-Roy J, Marti S, Deal C et al (2004) Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine. J Pediatr 144:747–752

    Article  CAS  PubMed  Google Scholar 

  • Spanakis E, Milord E, Gragnoli C (2008) AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. J Cell Physiol 217:605–617

    Article  CAS  PubMed  Google Scholar 

  • Spiegel AM (2000) G protein defects in signal transduction. Horm Res 53(Supp 13):17–22

    CAS  PubMed  Google Scholar 

  • Stanley CA (2016) Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders. J Clin Endocrinol Metab 101(3):815–826

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC (2015) DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. Best Pract Res Clin Endocrinol Metab 29(4):607–619. http://www.ncbi.nlm.nih.gov/pubmed/26303087

    Article  CAS  Google Scholar 

  • Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S (1995) Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 332:155–160

    Article  Google Scholar 

  • Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S (1999) A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. J Clin Endocrinol Metab 84:3792–3796

    CAS  PubMed  Google Scholar 

  • Szinnai G, Kosugi S, Derrien C et al (2006) Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD. J Clin Endocrinol Metab 91:1199–1204

    Article  CAS  PubMed  Google Scholar 

  • Tomova A, Deepinder F, Robeva R, Lalabonova H, Kumanov P, Agarwal A et al (2010) Growth and development of male external genitalia: a cross-sectional study of 6200 males aged 0 to 19 years. Arch Pediatr Adolesc Med 164:1152–1157. http://www.ncbi.nlm.nih.gov/pubmed/21135345

  • Transue D, Chan J, Kaplan M (1992) Management of neonatal Graves disease with iopanoic acid. J Pediatr 121:472–474

    Article  CAS  PubMed  Google Scholar 

  • Turcu AF, Auchus RJ (2015) The next 150 years of congenital adrenal hyperplasia. J Steroid Biochem Mol Biol 153:63–71. http://www.ncbi.nlm.nih.gov/pubmed/26047556

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Van Vliet G (2001) Treatment of congenital hypothyroidism. Lancet 358:86–87

    Article  PubMed  Google Scholar 

  • Van Vliet G, Czernichow P (2004) Screening for neonatal endocrinopathies: rationale, methods and results. Semin Neonatol 9:75–85

    Article  PubMed  Google Scholar 

  • Van Vliet G, Larroque B, Bubuteishvili L et al (2003) Sex-specific impact of congenital hypothyroidism due to thyroid dysgenesis on skeletal maturation in term newborns. J Clin Endocrinol Metab 88:2009–2013

    Google Scholar 

  • van Wassenaer AG, Kok JH, Dekker FW, de Vijlder JJ (1997) Thyroid function in very preterm infants: influences of gestational age and disease. Pediatr Res 42:604–609

    Article  PubMed  Google Scholar 

  • Vogel BH, Bradley SE, Adams DJ, D’Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M (2015) Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines. Mol Genet Metab 114(4):599–603. http://www.ncbi.nlm.nih.gov/pubmed/25724074

    Article  CAS  PubMed  Google Scholar 

  • Vulsma T, Gons MH, de Vijlder JJ (1989) Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis. N Engl J Med 321:13–16

    Article  CAS  PubMed  Google Scholar 

  • Wasniewska M, De Luca F, Cassio A et al (2003) In congenital hypothyroidism bone maturation at birth may be a predictive factor of psychomotor development during the first year of life irrespective of other variables related to treatment. Eur J Endocrinol 149:1–6

    Article  CAS  PubMed  Google Scholar 

  • Webb EA, Krone N (2015) Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency. Best Pract Res Clin Endocrinol Metab 29(3):449–468. http://www.ncbi.nlm.nih.gov/pubmed/?term=current+and+novel+approaches+to+children+and+young+people+with+CAH+and+adrenal#

    Article  Google Scholar 

  • Weber G, Vigone MC, Rapa A et al (1998) Neonatal transient hypothyroidism: aetiological study. Arch Dis Child Fetal Neonatal Ed 79:F70–FF7

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Weksberg R, Shuman C, Beckwith JB (2009) Beckwith–Wiedemann syndrome. Eur J Hum Genet 18:8–14

    Article  PubMed Central  Google Scholar 

  • Wiesinger C, Eichler FS, Berger J (2015) The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet 8:109–121

    CAS  PubMed  PubMed Central  Google Scholar 

  • Williams F, Hume R (2011) The measuremenet, definition, etiology and clinical consequences of neonatal transient hypothyroxinemia. Ann Clin Biochem 48:7–22

    Article  CAS  PubMed  Google Scholar 

  • Williams FL, Ogston SA, van Toor H et al (2005) Serum thyroid hormones in preterm infants: associations with postnatal illnesses and drug usage. J Clin Endocrinol Metab 90:5954–5963

    Article  CAS  PubMed  Google Scholar 

  • Williams FL, Visser TJ, Hume R (2006) Transient hypothyroxinaemia in preterm infants. Early Hum Dev 82:797–802

    Article  CAS  PubMed  Google Scholar 

  • Zakarija M, McKenzie JM, Munro DS (1983) Immunoglobulin G inhibitor of thyroid-stimulating antibody is a cause of delay in the onset of neonatal Graves’ disease. J Clin Invest 72:1352–1356

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zamproni I, Grasberger H, Cortinovis F et al (2008) Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab 93:605–610

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Paolo Ghirri , Antonio Balsamo , Massimiliano Ciantelli , Alessandro Cicognani , Antonio Boldrini or Alessandra Cassio .

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Appendix

Appendix

See Table Appendix A1.

Appendix A1 “Rare diseases” with associated hormone abnormalities (On behalf of A. Balsamo, P. Ghirri, A. Cicognani and A. Boldrini)

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Ghirri, P. et al. (2018). Endocrine Diseases and Disorders of Thyroid Function in Newborns. In: Buonocore, G., Bracci, R., Weindling, M. (eds) Neonatology. Springer, Cham. https://doi.org/10.1007/978-3-319-29489-6_259

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