Short stature resident survival guide

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eman Alademi, M.D.[2]

Overview

Causes

Common Causes

Systemic disorders with secondary effects on growth[1][2][3]:

  • Undernutrition [4]

Endocrine causes[27] of growth failure

Sexual precocity[31][32][33]

Genetic diseases with primary effects on growth[35], Turner syndrome, short stature homeobox gene (SHOX gene) variants[36][37][38][39][40][41][42][43][44], Prader-Willi syndrome[45][46][47][48][49], Noonan syndrome[50], Silver-Russell syndrome[51][52][53][54][55][56][57][58][59][60][61] [62],

Skeletal dysplasias/growth plate abnormalities[63][64][65][66][67][68]

pathologic short stature[69][70][71][72][73][74][75][76]

Diagnosis

Shown below is an algorithm summarizing the diagnosis of [[disease name]] according the the [...] guidelines.

 
 
 
Diagnosis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Treatment

Shown below is an algorithm summarizing the treatment of [[disease name]] according the the [...] guidelines.

 
 
 
 
 
 
 
Treatment
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Do's

  • The content in this section is in bullet points.

Don'ts

  • The content in this section is in bullet points.

References

  1. ↑ Biederman J, Spencer TJ, Monuteaux MC, Faraone SV (2010). "A naturalistic 10-year prospective study of height and weight in children with attention-deficit hyperactivity disorder grown up: sex and treatment effects". J Pediatr. 157 (4): 635–40, 640.e1. doi:10.1016/j.jpeds.2010.04.025. PMC 2943875. PMID 20605163.
  2. ↑ Swanson JM, Elliott GR, Greenhill LL, Wigal T, Arnold LE, Vitiello B; et al. (2007). "Effects of stimulant medication on growth rates across 3 years in the MTA follow-up". J Am Acad Child Adolesc Psychiatry. 46 (8): 1015–1027. doi:10.1097/chi.0b013e3180686d7e. PMID 17667480.
  3. ↑ Faraone SV, Biederman J, Morley CP, Spencer TJ (2008). "Effect of stimulants on height and weight: a review of the literature". J Am Acad Child Adolesc Psychiatry. 47 (9): 994–1009. doi:10.1097/CHI.ObO13e31817eOea7. PMID 18580502.
  4. ↑ Lifshitz F, Moses N (1988). "Nutritional dwarfing: growth, dieting, and fear of obesity". J Am Coll Nutr. 7 (5): 367–76. doi:10.1080/07315724.1988.10720254. PMID 3053861.
  5. ↑ Lai HC, FitzSimmons SC, Allen DB, Kosorok MR, Rosenstein BJ, Campbell PW; et al. (2000). "Risk of persistent growth impairment after alternate-day prednisone treatment in children with cystic fibrosis". N Engl J Med. 342 (12): 851–9. doi:10.1056/NEJM200003233421204. PMID 10727589.
  6. ↑ Doull IJ, Freezer NJ, Holgate ST (1995). "Growth of prepubertal children with mild asthma treated with inhaled beclomethasone dipropionate". Am J Respir Crit Care Med. 151 (6): 1715–9. doi:10.1164/ajrccm.151.6.7767512. PMID 7767512.
  7. ↑ Wolthers OD, Pedersen S (1991). "Growth of asthmatic children during treatment with budesonide: a double blind trial". BMJ. 303 (6795): 163–5. doi:10.1136/bmj.303.6795.163. PMC 1670402. PMID 1878641.
  8. ↑ Punthakee Z, Legault L, Polychronakos C (2003). "Prednisolone in the treatment of adrenal insufficiency: a re-evaluation of relative potency". J Pediatr. 143 (3): 402–5. doi:10.1067/S0022-3476(03)00294-4. PMID 14517528.
  9. ↑ Allen DB, Julius JR, Breen TJ, Attie KM (1998). "Treatment of glucocorticoid-induced growth suppression with growth hormone. National Cooperative Growth Study". J Clin Endocrinol Metab. 83 (8): 2824–9. doi:10.1210/jcem.83.8.5036. PMID 9709954.
  10. ↑ Allen DB (1996). "Growth suppression by glucocorticoid therapy". Endocrinol Metab Clin North Am. 25 (3): 699–717. doi:10.1016/s0889-8529(05)70348-0. PMID 8879994.
  11. ↑ Hernández M, Argente J, Navarro A, Caballo N, Barrios V, Hervás F; et al. (1992). "Growth in malnutrition related to gastrointestinal diseases: coeliac disease". Horm Res. 38 Suppl 1: 79–84. doi:10.1159/000182576. PMID 1284243.
  12. ↑ Vasseur F, Gower-Rousseau C, Vernier-Massouille G, Dupas JL, Merle V, Merlin B; et al. (2010). "Nutritional status and growth in pediatric Crohn's disease: a population-based study". Am J Gastroenterol. 105 (8): 1893–900. doi:10.1038/ajg.2010.20. PMID 20145606.
  13. ↑ Sawczenko A, Sandhu BK (2003). "Presenting features of inflammatory bowel disease in Great Britain and Ireland". Arch Dis Child. 88 (11): 995–1000. doi:10.1136/adc.88.11.995. PMC 1719349. PMID 14612366.
  14. ↑ Sanderson IR (2014). "Growth problems in children with IBD". Nat Rev Gastroenterol Hepatol. 11 (10): 601–10. doi:10.1038/nrgastro.2014.102. PMID 24957008.
  15. ↑ Bechtold S, Roth J (2009). "Natural history of growth and body composition in juvenile idiopathic arthritis". Horm Res. 72 Suppl 1: 13–9. doi:10.1159/000229758. PMID 19940490.
  16. ↑ Polito C, Strano CG, Olivieri AN, Alessio M, Iammarrone CS, Todisco N; et al. (1997). "Growth retardation in non-steroid treated juvenile rheumatoid arthritis". Scand J Rheumatol. 26 (2): 99–103. doi:10.3109/03009749709115826. PMID 9137323.
  17. ↑ de Zegher F, Reynaert N, De Somer L, Wouters C, Roelants M (2018). "Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies". Horm Res Paediatr. 90 (5): 337–343. doi:10.1159/000489778. PMID 29940586.
  18. ↑ McSherry E, Morris RC (1978). "Attainment and maintenance of normal stature with alkali therapy in infants and children with classic renal tubular acidosis". J Clin Invest. 61 (2): 509–27. doi:10.1172/JCI108962. PMC 372562. PMID 621287.
  19. ↑ Nandagopal R, Laverdière C, Mulrooney D, Hudson MM, Meacham L (2008). "Endocrine late effects of childhood cancer therapy: a report from the Children's Oncology Group". Horm Res. 69 (2): 65–74. doi:10.1159/000111809. PMID 18059086.
  20. ↑ Clayton PE, Shalet SM, Morris-Jones PH, Price DA (1988). "Growth in children treated for acute lymphoblastic leukaemia". Lancet. 1 (8583): 460–2. doi:10.1016/s0140-6736(88)91246-9. PMID 2893877.
  21. ↑ Karlberg J, Kjellmer I, Kristiansson B (1991). "Linear growth in children with cystic fibrosis. I. Birth to 8 years of age". Acta Paediatr Scand. 80 (5): 508–14. doi:10.1111/j.1651-2227.1991.tb11894.x. PMID 1872173.
  22. ↑ Thommessen M, Heiberg A, Kase BF (1992). "Feeding problems in children with congenital heart disease: the impact on energy intake and growth outcome". Eur J Clin Nutr. 46 (7): 457–64. PMID 1623850.
  23. ↑ McKinney RE, Robertson JW (1993). "Effect of human immunodeficiency virus infection on the growth of young children. Duke Pediatric AIDS Clinical Trials Unit". J Pediatr. 123 (4): 579–82. doi:10.1016/s0022-3476(05)80955-2. PMID 8410511.
  24. ↑ Bonfig W, Kapellen T, Dost A, Fritsch M, Rohrer T, Wolf J; et al. (2012). "Growth in children and adolescents with type 1 diabetes". J Pediatr. 160 (6): 900–3.e2. doi:10.1016/j.jpeds.2011.12.007. PMID 22244464.
  25. ↑ Mauras N, Merimee T, Rogol AD (1991). "Function of the growth hormone-insulin-like growth factor I axis in the profoundly growth-retarded diabetic child: evidence for defective target organ responsiveness in the Mauriac syndrome". Metabolism. 40 (10): 1106–11. doi:10.1016/0026-0495(91)90138-m. PMID 1719338.
  26. ↑ Clarke WL, Vance ML, Rogol AD (1993). "Growth and the child with diabetes mellitus". Diabetes Care. 16 Suppl 3: 101–6. doi:10.2337/diacare.16.3.101. PMID 8299467.
  27. ↑ Rosenfeld RG, Albertsson-Wikland K, Cassorla F, Frasier SD, Hasegawa Y, Hintz RL; et al. (1995). "Diagnostic controversy: the diagnosis of childhood growth hormone deficiency revisited". J Clin Endocrinol Metab. 80 (5): 1532–40. doi:10.1210/jcem.80.5.7538145. PMID 7538145.
  28. ↑ Magiakou MA, Mastorakos G, Oldfield EH, Gomez MT, Doppman JL, Cutler GB; et al. (1994). "Cushing's syndrome in children and adolescents. Presentation, diagnosis, and therapy". N Engl J Med. 331 (10): 629–36. doi:10.1056/NEJM199409083311002. PMID 8052272.
  29. ↑ Kanter AS, Diallo AO, Jane JA, Sheehan JP, Asthagiri AR, Oskouian RJ; et al. (2005). "Single-center experience with pediatric Cushing's disease". J Neurosurg. 103 (5 Suppl): 413–20. doi:10.3171/ped.2005.103.5.0413. PMID 16302612.
  30. ↑ Joshi SM, Hewitt RJ, Storr HL, Rezajooi K, Ellamushi H, Grossman AB; et al. (2005). "Cushing's disease in children and adolescents: 20 years of experience in a single neurosurgical center". Neurosurgery. 57 (2): 281–5, discussion 281-5. doi:10.1227/01.neu.0000166580.94215.53. PMID 16094156.
  31. ↑ Rogol AD (2001). "Early menarche and adult height: reprise of the hare and the tortoise?". J Pediatr. 138 (5): 617–8. doi:10.1067/mpd.2001.114697. PMID 11343032 PMID 11343032 Check |pmid= value (help).
  32. ↑ Biro FM, McMahon RP, Striegel-Moore R, Crawford PB, Obarzanek E, Morrison JA; et al. (2001). "Impact of timing of pubertal maturation on growth in black and white female adolescents: The National Heart, Lung, and Blood Institute Growth and Health Study". J Pediatr. 138 (5): 636–43. doi:10.1067/mpd.2001.114476. PMID 11343036.
  33. ↑ Herman-Giddens ME, Slora EJ, Wasserman RC, Bourdony CJ, Bhapkar MV, Koch GG; et al. (1997). "Secondary sexual characteristics and menses in young girls seen in office practice: a study from the Pediatric Research in Office Settings network". Pediatrics. 99 (4): 505–12. doi:10.1542/peds.99.4.505. PMID 9093289.
  34. ↑ Rosenfeld RG, Albertsson-Wikland K, Cassorla F, Frasier SD, Hasegawa Y, Hintz RL; et al. (1995). "Diagnostic controversy: the diagnosis of childhood growth hormone deficiency revisited". J Clin Endocrinol Metab. 80 (5): 1532–40. doi:10.1210/jcem.80.5.7538145. PMID 7538145.
  35. ↑ Kaplan SL, Grumbach MM (1990). "Clinical review 14: Pathophysiology and treatment of sexual precocity". J Clin Endocrinol Metab. 71 (4): 785–9. doi:10.1210/jcem-71-4-785. PMID 2205623.
  36. ↑ Blum WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL; et al. (2007). "Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial". J Clin Endocrinol Metab. 92 (1): 219–28. doi:10.1210/jc.2006-1409. PMID 17047016.
  37. ↑ Binder G, Schwarze CP, Ranke MB (2000). "Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone". J Clin Endocrinol Metab. 85 (1): 245–9. doi:10.1210/jcem.85.1.6375. PMID 10634394.
  38. ↑ Munns CF, Glass IA, Flanagan S, Hayes M, Williams B, Berry M; et al. (2003). "Familial growth and skeletal features associated with SHOX haploinsufficiency". J Pediatr Endocrinol Metab. 16 (7): 987–96. doi:10.1515/jpem.2003.16.7.987. PMID 14513875.
  39. ↑ Munns CF, Berry M, Vickers D, Rappold GA, Hyland VJ, Glass IA; et al. (2003). "Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency". J Pediatr Endocrinol Metab. 16 (7): 997–1004. doi:10.1515/jpem.2003.16.7.997. PMID 14513876.
  40. ↑ Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W (1997). "PHOG, a candidate gene for involvement in the short stature of Turner syndrome". Hum Mol Genet. 6 (8): 1341–7. doi:10.1093/hmg/6.8.1341. PMID 9259282.
  41. ↑ Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A; et al. (1999). "SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome". Acta Paediatr Suppl. 88 (433): 55–9. doi:10.1111/j.1651-2227.1999.tb14404.x. PMID 10626546.
  42. ↑ Franklin SL, Geffner ME (2009). "Growth hormone: the expansion of available products and indications". Endocrinol Metab Clin North Am. 38 (3): 587–611. doi:10.1016/j.ecl.2009.06.006. PMID 19717006.
  43. ↑ Binder G, Renz A, Martinez A, Keselman A, Hesse V, Riedl SW; et al. (2004). "SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity". J Clin Endocrinol Metab. 89 (9): 4403–8. doi:10.1210/jc.2004-0591. PMID 15356038.
  44. ↑ Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA; et al. (2007). "Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency". J Med Genet. 44 (5): 306–13. doi:10.1136/jmg.2006.046581. PMC 2597980. PMID 17182655.
  45. ↑ Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY; et al. (1993). "Prader-Willi syndrome: consensus diagnostic criteria". Pediatrics. 91 (2): 398–402. PMC 6714046 Check |pmc= value (help). PMID 8424017.
  46. ↑ Cassidy SB (1987). "Prader-Willi syndrome. Characteristics, management, and etiology". Ala J Med Sci. 24 (2): 169–75. PMID 3578708.
  47. ↑ Butler MG, Kaler SG, Yu PL, Meaney FJ (1982). "Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome". Clin Genet. 22 (6): 315–20. doi:10.1111/j.1399-0004.1982.tb01846.x. PMC 6218245. PMID 7160103.
  48. ↑ Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB; et al. (1999). "Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints". Am J Hum Genet. 65 (2): 370–86. doi:10.1086/302510. PMC 1377936. PMID 10417280.
  49. ↑ Hamilton CR, Scully RE, Kliman B (1972). "Hypogonadotropinism in Prader-Willi syndrome. Induction of puberty and sperm altogenesis by clomiphene citrate". Am J Med. 52 (3): 322–9. doi:10.1016/0002-9343(72)90019-8. PMID 5011391 : 5011391 Check |pmid= value (help).
  50. ↑ Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK; et al. (2017). "Noonan syndrome in diverse populations". Am J Med Genet A. 173 (9): 2323–2334. doi:10.1002/ajmg.a.38362. PMC 5710841. PMID 28748642.
  51. ↑ Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA; et al. (2008). "The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration". J Clin Endocrinol Metab. 93 (4): 1402–7. doi:10.1210/jc.2007-1897. PMID 18230663.
  52. ↑ Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB (1995). "Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients". Eur J Pediatr. 154 (12): 958–68. doi:10.1007/BF01958638. PMID 8801103.
  53. ↑ Binder G, Liebl M, Woelfle J, Eggermann T, Blumenstock G, Schweizer R (2013). "Adult height and epigenotype in children with Silver-Russell syndrome treated with GH". Horm Res Paediatr. 80 (3): 193–200. doi:10.1159/000354658. PMID 24051620.
  54. ↑ Ranke MB, Lindberg A, KIGS International Board (2010). "Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell syndrome treated with growth hormone: analysis of data from KIGS". Horm Res Paediatr. 74 (4): 259–66. doi:10.1159/000289570. PMID 20431273.
  55. ↑ Begemann M, Zirn B, Santen G, Wirthgen E, Soellner L, Büttel HM; et al. (2015). "Paternally Inherited IGF2 Mutation and Growth Restriction". N Engl J Med. 373 (4): 349–56. doi:10.1056/NEJMoa1415227. PMID 26154720.
  56. ↑ Butler MG (2009). "Genomic imprinting disorders in humans: a mini-review". J Assist Reprod Genet. 26 (9–10): 477–86. doi:10.1007/s10815-009-9353-3. PMC 2788689. PMID 19844787.
  57. ↑ Patti G, De Mori L, Tortora D, Severino M, Calevo M, Russo S; et al. (2020). "Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome". J Clin Endocrinol Metab. 105 (4). doi:10.1210/clinem/dgz151. PMID 31665337.
  58. ↑ Giabicani É, Boulé M, Aubertin G, Galliani E, Brioude F, Dubern B; et al. (2019). "Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome". Sleep Med. 64: 23–29. doi:10.1016/j.sleep.2019.05.020. PMID 31655321.
  59. ↑ Wakeling EL (2011). "Silver-Russell syndrome". Arch Dis Child. 96 (12): 1156–61. doi:10.1136/adc.2010.190165. PMID 21349887.
  60. ↑ Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N (2009). "Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation". Pediatrics. 123 (5): e929–31. doi:10.1542/peds.2008-3228. PMID 19364767.
  61. ↑ Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC (1999). "The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria". J Med Genet. 36 (11): 837–42. PMC 1734267. PMID 10544228.
  62. ↑ Toumba M, Albanese A, Azcona C, Stanhope R (2010). "Effect of long-term growth hormone treatment on final height of children with Russell-Silver syndrome". Horm Res Paediatr. 74 (3): 212–7. doi:10.1159/000295924. PMID 20424422.
  63. ↑ de Bruin C, Finlayson C, Funari MF, Vasques GA, Lucheze Freire B, Lerario AM; et al. (2016). "Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia". Horm Res Paediatr. 86 (5): 342–348. doi:10.1159/000446476. PMC 5135661. PMID 27245183.
  64. ↑ Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J; et al. (2018). "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy". J Clin Endocrinol Metab. 103 (2): 604–614. doi:10.1210/jc.2017-02026. PMID 29155992.
  65. ↑ Hwang IT, Mizuno Y, Amano N, Lee HJ, Shim YS, Nam HK; et al. (2020). "Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations". Mol Genet Genomic Med. 8 (3): e1146. doi:10.1002/mgg3.1146. PMC 7057090 Check |pmc= value (help). PMID 31960617.
  66. ↑ Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N; et al. (2017). "Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations". J Clin Endocrinol Metab. 102 (2): 460–469. doi:10.1210/jc.2016-3313. PMC 5413162. PMID 27870580.
  67. ↑ Plachy L, Strakova V, Elblova L, Obermannova B, Kolouskova S, Snajderova M; et al. (2019). "High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH". J Clin Endocrinol Metab. 104 (10): 4273–4281. doi:10.1210/jc.2018-02288. PMID 30753492.
  68. ↑ Flechtner I, Lambot-Juhan K, Teissier R, Colmenares A, Baujat G, Beltrand J; et al. (2014). "Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients". Eur J Endocrinol. 170 (5): 677–84. doi:10.1530/EJE-13-0864. PMID 24536087.
  69. ↑ Cohen P, Rogol AD, Deal CL, Saenger P, Reiter EO, Ross JL; et al. (2008). "Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop". J Clin Endocrinol Metab. 93 (11): 4210–7. doi:10.1210/jc.2008-0509. PMID 18782877.
  70. ↑ Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P (2008). "Idiopathic short stature: definition, epidemiology, and diagnostic evaluation". Growth Horm IGF Res. 18 (2): 89–110. doi:10.1016/j.ghir.2007.11.004. PMID 18182313.
  71. ↑ Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P (2008). "Idiopathic short stature: definition, epidemiology, and diagnostic evaluation". Growth Horm IGF Res. 18 (2): 89–110. doi:10.1016/j.ghir.2007.11.004. PMID 18182313.
  72. ↑ Cuttler L, Marinova D, Mercer MB, Connors A, Meehan R, Silvers JB (2009). "Patient, physician, and consumer drivers: referrals for short stature and access to specialty drugs". Med Care. 47 (8): 858–65. doi:10.1097/MLR.0b013e31819e1f04. PMID 19543124.
  73. ↑ Ouni M, Castell AL, Rothenbuhler A, Linglart A, Bougnères P (2016). "Higher methylation of the IGF1 P2 promoter is associated with idiopathic short stature". Clin Endocrinol (Oxf). 84 (2): 216–221. doi:10.1111/cen.12867. PMID 26218795.
  74. ↑ Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A; et al. (2018). "Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature". Genet Med. 20 (6): 630–638. doi:10.1038/gim.2017.159. PMC 5993671. PMID 29758562.
  75. ↑ Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S; et al. (2014). "Defining the role of common variation in the genomic and biological architecture of adult human height". Nat Genet. 46 (11): 1173–86. doi:10.1038/ng.3097. PMC 4250049. PMID 25282103.
  76. ↑ Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC; et al. (2019). "Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature". J Clin Endocrinol Metab. 104 (6): 2023–2030. doi:10.1210/jc.2018-01971. PMID 30602027.


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