Diagnostic and therapeutic approach of tall stature

Imagem de Miniatura
Arquivos
art_ALBUQUERQUE_Diagnostic_and_therapeutic_approach_of_tall_stature_2017.PDF (2.01 MB)
Citações na Scopus
33
Tipo de produção
article
Data de publicação
2017
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
BIOSCIENTIFICA LTD
Autores
Citação
EUROPEAN JOURNAL OF ENDOCRINOLOGY, v.176, n.6, p.R339-R353, 2017
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Tall stature is defined as a height of more than 2 standard deviations (s.d.) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand-specific follow-up approaches. Additionally, endocrine disorders associated with tall stature have specific treatments and for this reason their recognition is mandatory. With this review, we intend to provide an up-to-date summary of the genetic conditions associated with overgrowth to emphasize a practical diagnostic approach of patients with tall stature and to discuss the limitations of current growth interruption treatment options.
Palavras-chave
URI
https://observatorio.fm.usp.br/handle/OPI/21219
Referências
  1. Baron J, 2015, NAT REV ENDOCRINOL, V11, P735, DOI 10.1038/nrendo.2015.165
  2. BARTSCH O, 1988, EUR J PEDIATR, V147, P59, DOI 10.1007/BF00442613
  3. Benyi E, 2010, INT J PEDIAT ENDOCRI, V2010, DOI 10.1186/1687-9856-2010-740629
  4. Berdasco M, 2013, HUM GENET, V132, P359, DOI 10.1007/s00439-013-1271-x
  5. Binder G, 1997, EUR J PEDIATR, V156, P905, DOI 10.1007/s004310050740
  6. Bocciardi R, 2007, HUM MUTAT, V28, P724, DOI 10.1002/humu.20511
  7. Boehm U, 2015, NAT REV ENDOCRINOL, V11, P547, DOI 10.1038/nrendo.2015.112
  8. Bonfig W, 2017, CURR OPIN ENDOCRINOL, V24, P39, DOI 10.1097/MED.0000000000000308
  9. BUCKLER JMH, 1986, ARCH DIS CHILD, V61, P464
  10. Bulun SE, 2014, FERTIL STERIL, V101, P323, DOI 10.1016/j.fertnstert.2013.12.022
  11. BUTLER MG, 1992, PEDIATRICS, V89, P1059
  12. Butte NF, 2007, J NUTR, V137, P153
  13. Carel JC, 2009, HORM RES, V71, P228, DOI 10.1159/000201112
  14. Chagin AS, 2007, BONE, V40, P1415, DOI 10.1016/j.bone.2006.12.066
  15. Cousminer DL, 2013, HUM MOL GENET, V22, P2735, DOI 10.1093/hmg/ddt104
  16. de Bruin C, 2015, NAT REV ENDOCRINOL, V11, P455, DOI 10.1038/nrendo.2015.72
  17. Decker R, 2002, J CLIN ENDOCR METAB, V87, P1634, DOI 10.1210/jc.87.4.1634
  18. deWaal WJ, 1996, J CLIN ENDOCR METAB, V81, P1206, DOI 10.1210/jc.81.3.1206
  19. DEWAAL WJ, 1995, ARCH DIS CHILD, V73, P311
  20. DEWAAL WJ, 1995, CLIN ENDOCRINOL, V43, P87
  21. DICKERMAN Z, 1984, ACTA PAEDIATR SCAND, V73, P530, DOI 10.1111/j.1651-2227.1984.tb09966.x
  22. DiGiovanna JJ, 2001, J AM ACAD DERMATOL, V45, pS176, DOI 10.1067/mjd.2001.113721
  23. Drop SLS, 1998, ENDOCR REV, V19, P540, DOI 10.1210/er.19.5.540
  24. Eggermann K, 2016, EUR J HUM GENET, V24, P1377, DOI 10.1038/ejhg.2016.45
  25. Eggermann T, 2008, TRENDS GENET, V24, P195, DOI 10.1016/j.tig.2008.01.003
  26. Erkula G, 2002, AM J MED GENET, V109, P100, DOI 10.1002/ajmg.10312
  27. Fennoy I., 2013, OPINION ENDOCRINOLOG, V20, P44, DOI [10.1097/MED.0b013e32835b7f15, DOI 10.1097/MED.0B013E32835B7F15]
  28. Garrone S, 2002, J CLIN ENDOCR METAB, V87, P5455, DOI 10.1210/jc.2002-020614
  29. Groth KA, 2013, J CLIN ENDOCR METAB, V98, P20, DOI 10.1210/jc.2012-2382
  30. GRUTERS A, 1989, EUR J PEDIATR, V149, P11, DOI 10.1007/BF02024324
  31. Hannema SE, 2013, J CLIN ENDOCR METAB, V98, pE1988, DOI [10.1210/jc.2013-2358, 10.1210/jc.20130358]
  32. Hendriks AEJ, 2012, J CLIN ENDOCR METAB, V97, P3107, DOI 10.1210/jc.2012-1078
  33. Hendriks AEJ, 2011, J CLIN ENDOCR METAB, V96, P1098, DOI 10.1210/jc.2010-2244
  34. Hendriks AEJ, 2010, J CLIN ENDOCR METAB, V95, P5233, DOI 10.1210/jc.2010-0435
  35. Hermanussen M, 2010, HORM RES PAEDIAT, V74, P153, DOI 10.1159/000317440
  36. HINDMARSH PC, 1988, CLIN ENDOCRINOL, V29, P289, DOI 10.1111/j.1365-2265.1988.tb01227.x
  37. Iravani M, 2017, J ENDOCRINOL, V232, P403, DOI 10.1530/JOE-16-0263
  38. Jaruratanasirikul Somchit, 2006, Journal of the Medical Association of Thailand, V89, P1396
  39. Jee YH, 2016, J PEDIATR-US, V173, P32, DOI 10.1016/j.jpeds.2016.02.068
  40. Johnson W, 2012, INT J OBESITY, V36, P535, DOI 10.1038/ijo.2011.238
  41. JOSS EE, 1992, ARCH DIS CHILD, V67, P1357
  42. JOSS EE, 1994, EUR J PEDIATR, V153, P797
  43. Kant SG, 2007, EUR J MED GENET, V50, P1, DOI 10.1016/j.ejmg.2006.03.005
  44. Katsanis SH, 2013, NAT REV GENET, V14, P415, DOI 10.1038/nrg3493
  45. Katznelson L, 2014, J CLIN ENDOCR METAB, V99, P3933, DOI 10.1210/jc.2014-2700
  46. Keppler-Noreuil KM, 2015, AM J MED GENET A, V167, P287, DOI 10.1002/ajmg.a.36836
  47. Kidd SA, 2014, PEDIATRICS, V134, P995, DOI 10.1542/peds.2013-4301
  48. Kurotaki N, 2001, GENE, V279, P197, DOI 10.1016/S0378-1119(01)00750-8
  49. Kwun Y, 2015, J KOREAN MED SCI, V30, P911, DOI 10.3346/jkms.2015.30.7.911
  50. Latronico AC, 2016, LANCET DIABETES ENDO, V4, P265, DOI 10.1016/S2213-8587(15)00380-0
  51. Lee JM, 2006, ARCH PEDIAT ADOL MED, V160, P1035, DOI 10.1001/archpedi.160.10.1035
  52. Lemcke B, 1996, J CLIN ENDOCR METAB, V81, P296, DOI 10.1210/jc.81.1.296
  53. Lim D, 2009, HUM REPROD, V24, P741, DOI 10.1093/humrep/den406
  54. Liu F, 2014, HUM GENET, V133, P587, DOI 10.1007/s00439-013-1394-0
  55. LOESCH DZ, 1995, AM J MED GENET, V58, P249, DOI 10.1002/ajmg.1320580311
  56. Loeys BL, 2010, J MED GENET, V47, P476, DOI 10.1136/jmg.2009.072785
  57. Louhiala P, 2009, J MED ETHICS, V35, P713, DOI 10.1136/jme.2009.030189
  58. Lozano R, 2016, INTRACTABLE RARE DIS, V5, P145, DOI 10.5582/irdr.2016.01048
  59. Luscan A, 2014, J MED GENET, V51, P512, DOI 10.1136/jmedgenet-2014-102402
  60. Marchini A, 2016, ENDOCR REV, V37, P417, DOI 10.1210/er.2016-1036
  61. Miedlich SU, 2016, BONE, V93, P181, DOI 10.1016/j.bone.2016.09.024
  62. Miller DT, 2010, AM J HUM GENET, V86, P749, DOI 10.1016/j.ajhg.2010.04.006
  63. MORISHIMA A, 1995, J CLIN ENDOCR METAB, V80, P3689, DOI 10.1210/jc.80.12.3689
  64. Nilsson O, 2005, HORM RES, V64, P157, DOI 10.1159/000088791
  65. Nilsson O, 2003, ENDOCRINOLOGY, V144, P1481, DOI 10.1210/en.2002-221108
  66. Nishimura G, 1997, EUR J PEDIATR, V156, P432, DOI 10.1007/s004310050631
  67. Noordam C, 2006, EUR J ENDOCRINOL, V154, P253, DOI 10.1530/eje.1.02087
  68. NORMANN EK, 1991, ARCH DIS CHILD, V66, P1275
  69. Noyes JJ, 2016, HORM RES PAEDIAT, V85, P69, DOI 10.1159/000441140
  70. Odink RJ, 2006, EUR J PEDIATR, V165, P50, DOI 10.1007/s00431-005-1722-z
  71. Otter M, 2010, EUR J HUM GENET, V18, P265, DOI 10.1038/ejhg.2009.109
  72. Ottesen AM, 2010, AM J MED GENET A, V152A, P1206, DOI 10.1002/ajmg.a.33334
  73. Ounap K, 2016, MOL SYNDROMOL, V7, P110, DOI 10.1159/000447413
  74. Papadimitriou A, 2010, J CLIN ENDOCR METAB, V95, P4535, DOI 10.1210/jc.2010-0895
  75. Picker JD, 1993, GENEREVIEWS R
  76. PRENDIVILLE J, 1986, J AM ACAD DERMATOL, V15, P1259, DOI 10.1016/S0190-9622(86)70300-9
  77. Pyett P, 2005, SOC SCI MED, V61, P1629, DOI 10.1016/j.socsimed.2005.03.016
  78. Radivojevic U, 2006, CLIN ENDOCRINOL, V64, P423, DOI 10.1111/j.1365-2265.2006.02485.x
  79. Rask O, 2008, ACTA PAEDIATR, V97, P342, DOI 10.1111/j.1651-2227.2007.00635.x
  80. Rochira V, 2009, NAT REV ENDOCRINOL, V5, P559, DOI 10.1038/nrendo.2009.176
  81. Rostomyan L, 2015, ENDOCR-RELAT CANCER, V22, P745, DOI 10.1530/ERC-15-0320
  82. Sakai LY, 2016, GENE, V591, P279, DOI 10.1016/j.gene.2016.07.033
  83. Saul RA, 1993, GENEREVIEWS R
  84. Schafgen J, 2016, EUR J HUM GENET, V24, P1739, DOI 10.1038/ejhg.2016.90
  85. SCHOENLE EJ, 1987, J CLIN ENDOCR METAB, V65, P355
  86. Shuman C, 1993, GENEREVIEWS R
  87. Stalman SE, 2015, J CLIN RES PEDIATR E, V7, P260, DOI 10.4274/jcrpe.2220
  88. Stovitz SD, 2011, AM J HUM BIOL, V23, P635, DOI 10.1002/ajhb.21191
  89. Tarailo-Graovac M, 2016, NEW ENGL J MED, V374, P2246, DOI 10.1056/NEJMoa1515792
  90. Tartaglia NR, 2010, ORPHANET J RARE DIS, V5, DOI 10.1186/1750-1172-5-8
  91. Tatton-Brown K, 2005, AM J HUM GENET, V77, P193, DOI 10.1086/432082
  92. Tatton-Brown K, 2007, EUR J HUM GENET, V15, P264, DOI 10.1038/sj.ejhg.5201686
  93. Thauvin-Robinet C, 2016, CLIN GENET, V89, pE1, DOI 10.1111/cge.12704
  94. Thomsett MJ, 2009, J PAEDIATR CHILD H, V45, P58, DOI 10.1111/j.1440-1754.2008.01428.x
  95. Upners EN, 2016, PEDIATR RES, V80, P693, DOI 10.1038/pr.2016.128
  96. Vasques GA, 2014, HORM RES PAEDIAT, V82, P222, DOI 10.1159/000365049
  97. Venn A, 2004, LANCET, V364, P1513, DOI 10.1016/S0140-6736(04)17274-7
  98. Venn A, 2008, CLIN ENDOCRINOL, V68, P926, DOI 10.1111/j.1365-2265.2007.03128.x
  99. Vidal O, 2000, P NATL ACAD SCI USA, V97, P5474, DOI 10.1073/pnas.97.10.5474
  100. Vilar L, 2017, PITUITARY, V20, P22, DOI 10.1007/s11102-016-0772-8
  101. Weimann E, 1998, ARCH DIS CHILD, V78, P148
  102. WENG EY, 1995, AM J MED GENET, V56, P366, DOI 10.1002/ajmg.1320560405
  103. Wigby K, 2016, AM J MED GENET A, V170, P2870, DOI 10.1002/ajmg.a.37688
  104. Wikstrom AM, 2011, BEST PRACT RES CL EN, V25, P239, DOI 10.1016/j.beem.2010.09.006
  105. Wong GWK, 1999, EUR J PEDIATR, V158, P776, DOI 10.1007/s004310051202
  106. Wood AR, 2014, NAT GENET, V46, P1173, DOI 10.1038/ng.3097
  107. Wright CM, 1999, ARCH DIS CHILD, V81, P257
  108. Yang YP, 2014, JAMA-J AM MED ASSOC, V312, P1870, DOI 10.1001/jama.2014.14601

Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - LIM/25
Artigos e Materiais de Revistas Científicas - ODS/03