Results of Turner Syndrome Treatment with Recombinant Human Growth Hormone in Albania

Agim Gjikopulli, Sonila Tomori, Donjeta Bali, Paskal Cullufi, Laurant Kollcaku, Mirela Tabaku, Anila Babameto

For citation: Gjikopulli A, Tomori S, Bali D, Cullufi P, Kollcaku L, Tabaku M, Babameto A. Results of Turner Syndrome Treatment with Recombinant Human Growth Hormone in Albania. International Journal of Biomedicine. 2024;14(2):275-281. doi:10.21103/Article14(2)_OA6
Originally published June 5, 2024


Background: There is no doubt that the use of rhGH in patients with TS brings satisfactory results regarding the improvement of height growth, realizing the improvement of the final adult height. This study aimed to evaluate the influence of the type/characteristic of the genetic anomaly on sex chromosome X on the outcome of treatment with rhGH among Albanian children diagnosed with TS.
Methods and Results: This analytical-observational study was conducted at the Pediatric Endocrine Unit at University Hospital Centre Mother Teresa in Tirana, the only one of its kind treating TS pediatrics in Albania. Only TS patients who had attained near-adult height (NAH) by December 2023 were included in the analysis of this study. Near-adult height was obtained for 44(72.1%) patients. The mean age of starting treatment was 12.68±3.03 years. After a treatment duration of 3.60±2.26 years, the patients recovered 0.88±0.56 in height-for-age Z-score (HAZ), resulting in HAZ at the end of treatment of -2.73±0.87. They achieved their NAH of 144.56±6.53cm.
Conclusion: Despite starting treatment late, our patients managed to gain 17.70±12.53cm in length. The progression of height improvement under rhGH treatment showed differences between chromosomal groups. The non-monosomy group had better results regarding NAH and HAZ at the treatment's end than the monosomy group.

Turner syndrome • karyotype • rhGH • height-for-age Z-score • near-adult height
  1. Saenger P. Turner's syndrome. N Engl J Med. 1996 Dec 5;335(23):1749-54. doi: 10.1056/NEJM199612053352307. PMID: 8929268.
  2. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997 May;16(1):54-63. doi: 10.1038/ng0597-54. PMID: 9140395.
  3. WHO. Child growth standards. Available at:
  4. Greulich WW, Pyle S. I. Radiographic Atlas of Skeletal Development of the Hand and Wrist. Stanford: Stanford University Press; 1959.
  5. Wasniewska M, Aversa T, Mazzanti L, Guarneri MP, Matarazzo P, De Luca F, Lombardo F, Messina MF, Valenzise M. Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose. Eur J Endocrinol. 2013 Sep 13;169(4):439-43. doi: 10.1530/EJE-12-1032. PMID: 23904278.
  6. Ross J, Lee PA, Gut R, Germak J. Impact of age and duration of growth hormone therapy in children with Turner syndrome. Horm Res Paediatr. 2011;76(6):392-9. doi: 10.1159/000333073. Epub 2011 Nov 29. PMID: 22156541.
  7. Rosenfeld RG, Attie KM, Frane J, Brasel JA, Burstein S, Cara JF, Chernausek S, Gotlin RW, Kuntze J, Lippe BM, Mahoney CP, Moore WV, Saenger P, Johanson AJ. Growth hormone therapy of Turner's syndrome: beneficial effect on adult height. J Pediatr. 1998 Feb;132(2):319-24. doi: 10.1016/s0022-3476(98)70452-4. PMID: 9506648.
  8. Ricotti S, Petrucci L, Carenzio G, Klersy C, Calcaterra V, Larizza D, Dalla Toffola E. Prevalence and incidence of scoliosis in Turner syndrome: a study in 49 girls followed-up for 4 years. Eur J Phys Rehabil Med. 2011 Sep;47(3):447-53. Epub 2011 Apr 20. PMID: 21508910.
  9. Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AM, Ranke MB, Rosenfeld R, Silberbach M; Fifth International Symposium on Turner Syndrome. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab. 2001 Jul;86(7):3061-9. doi: 10.1210/jcem.86.7.7683. PMID: 11443168.
  10. Blum WF, Cao D, Hesse V, Fricke-Otto S, Ross JL, Jones C, Quigley CA, Binder G. Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome. Horm Res. 2009;71(3):167-72. doi: 10.1159/000197874. Epub 2009 Feb 3. PMID: 19188742.
  11. Hjerrild BE, Mortensen KH, Gravholt CH. Turner syndrome and clinical treatment. Br Med Bull. 2008;86:77-93. doi: 10.1093/bmb/ldn015. Epub 2008 Apr 9. PMID: 18400842.
  12. Hintz RL. SHOX mutations. Rev Endocr Metab Disord. 2002 Dec;3(4):363-7. doi: 10.1023/a:1020909925921. PMID: 12424438.
  13. Guedes AD, Bianco B, Callou EQ, Gomes AL, Lipay MV, Verreschi IT. O hormônio de crescimento na síndrome de Turner: dados e reflexões [Growth hormone treatment inTurner syndrome: data and reflections]. Arq Bras Endocrinol Metabol. 2008 Jul;52(5):757-64. Portuguese. doi: 10.1590/s0004-27302008000500007. PMID: 18797582.
  14. Jorge AA, Nishi MY, Funari MF, Souza SC, Arnhold IJ, Mendonça BB. Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento [Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment]. Arq Bras Endocrinol Metabol. 2008 Jul;52(5):765-73. Portuguese. doi: 10.1590/s0004-27302008000500008. PMID:
  15. Kasprzyk J, Włodarczyk M, Sobolewska-Włodarczyk A, Wieczorek-Szukała K, Stawerska R, Hilczer M, Lewiński A. Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome. J Clin Med. 2021 Oct 29;10(21):5076. doi: 10.3390/jcm10215076. PMID: 34768596; PMCID: PMC8584940.
  16. Donaldson MD, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child. 2006 Jun;91(6):513-20. doi: 10.1136/adc.2003.035907. PMID: 16714725; PMCID: PMC2082783.
  17. Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019 Oct;15(10):601-614. doi: 10.1038/s41574-019-0224-4. Epub 2019 Jun 18. PMID: 31213699.

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Received April 13, 2024.
Accepted June 2, 2024.
©2024 International Medical Research and Development Corporation.