Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
Login Abbonamenti Pubblicazioni Carrello Registrazione Perché registrarsi? Contatti

Aggiornamento

Corto come il papà

Short parents, short children - more on familial short stature

Gianluca Tornese

SCU di Clinica Pediatrica, SS di Endocrinologia, Diabetologia e Altre Malattie del Metabolismo, IRCCS Materno-Infantile “Burlo Garofolo”, Trieste

Settembre 2019 - pagg. 431 -437

Abstract
Familial short stature is the second cause of short stature immediately after constitutional delay of growth and puberty. So far, in case of familiarity for short stature, regular growth velocity, bone age compatible with chronological age, the indication has been not to carry out further investigations. The advent of next generation sequencing has revolutionized, among others, the field of short stature, and many children with familial short stature could have a mutated gene that could benefit from growth hormone therapy (i.e. SHOX, IHH, PTPN11...).
Contenuto riservato

Per leggere l'articolo completo è necessario effettuare il login.

Non sei ancora registrato? Registrati

Bibliografia
1. Pellegrin MC, Tornese G, Barbi E. A pubertal boy presenting with mild disproportionate short stature. Arch Dis Child Educ Pract Ed 2019 [Epub ahead of print]. 2. Pellegrin MC, Andrade S, Faleschini E, Barbi E, Bizzarri C, Tornese G. Bassa statura da deficit di gene SHOX: vecchi e nuovi concetti. Medico e Bambino 2019;38(7):438-44. 3. Gutch M, Sukriti K, Keshav GK, et al. Etiology of short stature in Northern India. J ASEAN Fed Endocr Soc 2016;31(1):23. 4. Wright CM, Cheetham TD. The strengths and limitations of parental heights as a predictor of attained height. Arch Dis Child 1999;81(3):257-60. 5. Gunnell DJ, Berney L, Holland P, et al. How accurately are height, weight and leg length reported by the elderly and how closely are they related to measurements recorded in childhood. Int J Epidemiol 2000;29 (3):456-64. 6. Bellis MA, Hughes K, Hughes S, Ashton JR. Measuring paternal discrepancy and its public health consequences. J Epidemiol Community Health 2005;59(9):749-54. 7. Italia. Determinazione dell’Agenzia Italiana del Farmaco 19 giugno 2014. Modifica alla nota AIFA 39. Gazzetta Ufficiale. Serie Generale n. 154 del 5 luglio 2014. 8. Rappold G, Blum WF, Shavrikova EP, et al. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet 2007;44(5): 306-13. 9. Fredriks AM, van Buuren S, van Heel WJ, et al. Nationwide age references for sitting height, leg length, and sitting height/height ratio, and their diagnostic value for disproportionate growth disorders. Arch Dis Child 2005;90(8):807-12. 10. Iughetti L, Vannelli S, Street ME, et al. Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy. Horm Res Paediatr 2012; 78(5-6):279-87. 11. Blum WF, Crowe BJ, Quigley CA, et al. Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: twoyear results of a randomized, controlled, multicenter trial. J Clin Endocrinol Metab 2007; 92(1):219-28. 12. Blum WF, Ross JL, Zimmermann AG, et al. GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial. J Clin Endocrinol Metab 2013;98(8):E1383-92. 13. Marchini A, Ogata T, Rappold GA. A track record on SHOX: from basic research to complex models and therapy. Endocr Rev 2016;37(4):417-48. 14. Andrade AC, Jee YH, Nillson O. New genetic diagnoses of short stature provide insights into local regulation of childhood growth. Horm Res Paediatr 2017;88(1):22-37. 15. Baron J, Sävendahl L, De Luca F, et al. Short and tall stature: a new paradigm emerges. Nat Rev Endocrinol 2015;11(12):735-46. 16. Wei Q, Zhang X, Zhou C, Ren Q, Zhang Y. Roles of large aggregating proteoglycans in human intervertebral disc degeneration. Connect Tissue Res 2019;60(3):209-18. 17. Tompson SW, Merriman B, Funari VA, et al. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet 2009;84:72-9. 18. Nilsson O, Guo MH, Dunbar N, et al. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab 2014;99(8):E1510-8. 19. Dateki S. ACAN mutations as a cause of familial short stature.Clin Pediatr Endocrinol 2017;26(3):119-25. 20. Bartels CF, Bükülmez H, Padayatti P, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet 2004;75(1):27-34. 21. Vasques GA, Amano N, Docko AJ, et al. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. J Clin Endocrinol Metab 2013;98(10):E1636-44. 22. Amano N, Mukai T, Ito Y, et al. Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature. J Clin Endocrinol Metab 2014;99(4):E713-8. 23. Wang SR, Jacobsen CM, Carmicheal H, et al. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Hum Mutat 2015;36(4):474-81. 24. Hellemans J, Coucke PJ, Giedion A, et al. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am J Hum Genet 2003;72 (4):1040-6. 25. Yang X, She C, Guo J, et al. A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. Am J Hum Genet 2000;66(3):892- 903. 26. Vasques GA, Funari MFA, Ferreira FM, et al. IHH gene mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy. J Clin Endocrinol Metab 2018;103(2):604-14. 27. Tornese G. Letter to the editor: IHH gene mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy. J Clin Endocrinol Metab 2019. pii: jc.2019-01270 28. Wang SR, Carmicheal H, Andrew SF, et al. Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. J Clin Endocrinol Metab 2013;98(8):E1428-37. 29. Tornese G, Pellegrin MC, Barbi E, Ventura A. Pediatric Endocrinology through syndromes. Eur J Med Genet 2019. pii: S1769- 7212(18)30316-1. 30. Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. J Clin Endocrinol Metab 2014;99(9):3080-92. 31. Sotos JF, Tokar NJ. Growth hormone significantly increases the adult height of children with idiopathic short stature: comparison of subgroups and benefit. Int J Pediatr Endocrinol 2014;2014(1):15.

Corrispondenza: gianluca.tornese@burlo.trieste.it