Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
권호 표지
DOI QR코드

DOI QR Code

Concomitant occurrence of Turner syndrome and growth hormone deficiency

  • Yu, Jung (Department of Pediatrics, Inje University Ilsan Paik Hospital) ;
  • Shin, Ha Young (Department of Pediatrics, Inje University Ilsan Paik Hospital) ;
  • Lee, Chong Guk (Department of Pediatrics, Inje University Ilsan Paik Hospital) ;
  • Kim, Jae Hyun (Department of Pediatrics, Inje University Ilsan Paik Hospital)
  • 투고 : 2014.09.13
  • 심사 : 2014.10.31
  • 발행 : 2016.11.15
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

키워드

참고문헌

  1. Sybert VP, McCauley E. Turner's syndrome. N Engl J Med 2004;351:1227-38. https://doi.org/10.1056/NEJMra030360
  2. Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 2004;151:657-87. https://doi.org/10.1530/eje.0.1510657
  3. Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10-25. https://doi.org/10.1210/jc.2006-1374
  4. Yeo CY, Kim CJ, Woo YJ, Lee DY, Kim MS, Kim EY, et al. Clinical disease characteristics according to karyotype in Turner syndrome. Korean J Pediatr 2010;53:158-62. https://doi.org/10.3345/kjp.2010.53.2.158
  5. Seo HJ, Lee JH, Lee HK, Jung SH, Lee KS. A cytogenetic study in patients with sex chromosome abnormalities. Korean J Pediatr 2005;48:1317-23.
  6. Growth Hormone Research Society. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society. J Clin Endocrinol Metab 2000;85:3990-3.
  7. Stanley T. Diagnosis of growth hormone deficiency in childhood. Curr Opin Endocrinol Diabetes Obes 2012;19:47-52. https://doi.org/10.1097/MED.0b013e32834ec952
  8. Jin W, Cheng FX, Xiao MS, Fan Y, Dong W. Concurrent occurrence of chronic lymphocytic thyroiditis with hypothyroidism and growth hormone deficiency in a Turner's syndrome patient. J Pediatr Endocrinol Metab 2011;24:237-9.
  9. Gallicchio CT, Alves ST, Ramos HI, Llerena JC, Guimaraes MM. Association of Turner's syndrome and hypopituitarism: a patient report. J Pediatr Endocrinol Metab 2003;16:901-5.
  10. Efstathiadou Z, Tsatsoulis A. Turner's syndrome with concomitant hypopituitarism: case report. Hum Reprod 2000;15:2388-9. https://doi.org/10.1093/humrep/15.11.2388
  11. Duke EM, Hussein DM, Hamilton W. Turner's syndrome associated with growth hormone deficiency. Scott Med J 1981;26:240-4. https://doi.org/10.1177/003693308102600309
  12. Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome. J Clin Endocrinol Metab 1997;82:1810-3.
  13. Wit JM, Massarano AA, Kamp GA, Hindmarsh PC, van Es A, Brook CG, et al. Growth hormone secretion in patients with Turner's syndrome as determined by time series analysis. Acta Endocrinol (Copenh) 1992;127:7-12.
  14. Brook CG. Growth hormone deficiency in Turner's syndrome. N Engl J Med 1978;298:1203-4.
  15. Ranke MB, Lindberg A. Turner syndrome within KIGS including an analysis of 1146 patients grown to near adult height. In: Ranke MB, Price DA, Reiter EO, editors. Growth hormone therapy in pediatrics: 20 years of KIGS. Basel: Karger; 2007:332-9.