Turner syndrome in Albania and the efficacy of its treatment with growth hormone
-
Petrit Hoxha
,
Klodiana Gjoka
Abstract
The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a retrospective analysis of 59 patients suffering from this syndrome (aging from 5 to 23 years old). The diagnosis of female patients suffering from Turner syndrome is delayed, with a mean age at the moment of diagnosis of 13.74 years (5–23 years). The main reason for seeking medical advice was the growth retardation or a delayed puberty. Available data for 52 patients showed that the most frequent accompanying pathologies were the following: thyroid autoimmune disorders (59%), cardiovascular anomalies (43%), renal pathologies (41%), hearing impairment (4.3%) and hypertension (3.3%). Follow-up for the growth rate was possible for 52 patients out of the total of 59 patients. Twenty-five of the female patients suffering Turner syndrome and forming part of our study sample were treated with growth hormone for a period averaging 3 years and 4 months. A variety of reasons was identified as responsible for the missed treatment in 27 patients. We saw an enhanced growth (in terms of body height) within the treated subgroup, when compared with the untreated subgroup (27 patients), especially during the first 3 years of the follow-up. No side effects of this treatment were reported. Both groups of patients initiated as well a sexual hormone therapy (estrogens and progesterone) for inducing puberty at the age of 12 years. Further work is needed for an early diagnosis of this syndrome, the prompt treatment with growth hormone and the monitoring of accompanying disorders. This will ensure a better quality of life and an improvement of the longevity of patients suffering from the Turner syndrome.
Acknowledgments
Genc Burazeri PhD (Department of International Health, School for Public Health and Primary Care (CAPHRI), Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands) offered his valuable contribution for the statistical analysis of the data.
References
1. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81–3.10.1007/BF01213097Search in Google Scholar
2. Jacobs P, Dalton P, James R, Mosse K, Power M, et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 1997;61:471–83.10.1017/S0003480097006507Search in Google Scholar
3. Derbent M, Bilezikçi B, Alpas I, Baltaci V. Fetal 45,X/46,XY mosaicism, cytogenetic and morphologic findings in pregnancy. Turk J Med Sci 2001;31:163–5.Search in Google Scholar
4. Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991;20:121–52.10.1016/S0889-8529(18)30284-6Search in Google Scholar
5. Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner’s syndrome in adulthood. Endocr Rev 2002;23:120–40.Search in Google Scholar
6. Cunniff C. Turner syndrome. Adolesc Med 2002;13:359–66, viii.10.1016/S0140-6736(02)07502-5Search in Google Scholar
7. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med 2004;351:1227–38.10.1056/NEJMra030360Search in Google Scholar
8. Rao E, Weiss B, Fukami M, Rump A, Niesler B, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54–63.10.1038/ng0597-54Search in Google Scholar
9. Davenport ML, Crowe BJ, Travers SH, Rubin K, Ross JL, et al. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab 2007;92:3406–16.10.1210/jc.2006-2874Search in Google Scholar
10. Backeljauw P. Does growth hormone therapy before 4 years of age enhance the linear growth of girls with Turner’s syndrome? Nat Clin Pract Endocrinol Metab 2008;4:78–9.10.1038/ncpendmet0678Search in Google Scholar
11. Bolar K, Hoffman AR, Maneatis T, Lippe B. Long-term safety of recombinant human growth hormone in turner syndrome. J Clin Endocrinol Metab 2008;93:344–51.10.1210/jc.2007-1723Search in Google Scholar
12. Van den Broeck J, Massa GG, Attanasio A, Matranga A, Chaussain JL, et al. Final height after long-term growth hormone treatment in Turner syndrome. European Study Group. J Pediatr 1995;127:729–35.10.1016/S0022-3476(95)70161-3Search in Google Scholar
13. Ross JL, Quigley CA, Cao D, Feuillan P, Kowal K, et al. Growth hormone plus childhood low-dose estrogen in Turner’s syndrome. N Engl J Med 2011;364:1230–42.10.1056/NEJMoa1005669Search in Google Scholar
14. Natowicz M, Kelley RI. Association of Turner syndrome with hypoplastic left-heart syndrome. Am J Dis Child 1987;141: 218–20.10.1001/archpedi.1987.04460020108041Search in Google Scholar
15. Frías JL, Davenport ML, Committee on Genetics and Section on Endocrinology. Health supervision for children with Turner syndrome. Pediatrics 2003;111:692–702.10.1542/peds.111.3.692Search in Google Scholar
16. Kneppo C, Eichhorn JG, Ley S, Schenk JP, Gorenflo M, et al. Assessment of aortic morphology and compliance in children and adolescents with Ullrich-Turner syndrome (UTS) using magnetic resonance imaging (MRI). J Pediatr Endocrinol Metab 2014;27:915–22.10.1515/jpem-2013-0332Search in Google Scholar
17. 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;92:10–25.10.1210/jc.2006-1374Search in Google Scholar
18. Goldacre MJ, Seminog OO. Turner syndrome and autoimmune diseases: record-linkage study. Arch Dis Child 2014;99:71–3.10.1136/archdischild-2013-304617Search in Google Scholar
19. Lippe B, Geffner ME, Dietrich RB, Boechat MI, Kangarloo H. Renal malformations in patients with Turner syndrome: imaging in 141 patients. Pediatrics 1988;82:852–6.10.1542/peds.82.6.852Search in Google Scholar
20. Hart SJ, Davenport ML, Hooper SR, Belger A. Visuospatial executive function in Turner syndrome: functional MRI and neurocognitive findings. Brain 2006;129:1125–36.10.1093/brain/awl046Search in Google Scholar
21. Van Borsel J, Dhooge I, Verhoye K, Derde K, Curfs L. Communication problems in Turner syndrome: a sample survey. J Commun Disord 1999;32:435–44; quiz 444–6.10.1016/S0021-9924(99)00020-9Search in Google Scholar
22. McCauley E, Feuillan P, Kushner H, Ross JL. Psychosocial development in adolescents with Turner syndrome. J Dev Behav Pediatr 2001;22:360–5.10.1097/00004703-200112000-00003Search in Google Scholar PubMed
23. Ross J, Zinn A, McCauley E. Neurodevelopmental and psychosocial aspects of Turner syndrome. Ment Retard Dev Disabil Res Rev 2000;6:135–41.10.1002/1098-2779(2000)6:2<135::AID-MRDD8>3.0.CO;2-KSearch in Google Scholar
24. McCauley E, Kay T, Ito J, Treder R. The Turner syndrome: cognitive deficits, affective discrimination, and behavior problems. Child Dev 1987;58:464–73.10.2307/1130523Search in Google Scholar
25. Lawrence K, Kuntsi J, Coleman M, Campbell R, Skuse D. Face and emotion recognition deficits in Turner syndrome: a possible role for X-linked genes in amygdala development. Neuropsychology 2003;17:39–49.10.1037/0894-4105.17.1.39Search in Google Scholar
26. McCauley E, Sybert V. Social and behavioral development of girls and women with Turner syndrome. International Congress Series 2006;1298:93–9.10.1016/j.ics.2006.06.018Search in Google Scholar
27. Downey J, Ehrhardt AA, Gruen R, Bell JJ, Morishima A. Psychopathology and social functioning in women with Turner syndrome. J Nerv Ment Dis 1989;177:191–201.10.1097/00005053-198904000-00002Search in Google Scholar
28. Raiti S, Moore WV, Van Vliet G, Kaplan SL. Growth-stimulating effects of human growth hormone therapy in patients with Turner syndrome. J Pediatr 1986;109:944–9.10.1016/S0022-3476(86)80273-6Search in Google Scholar
29. Pasquino AM, Passeri F, Municchi G, Segni M, Pucarelli I, et al. Final height in Turner syndrome patients treated with growth hormone. Horm Res 1996;46:269–72.10.1159/000185099Search in Google Scholar
30. http://www.who.int/childgrowth/software/en/ [Last accessed: July 6th, 2015].Search in Google Scholar
31. Hewitt JK, Jayasinghe Y, Amor DJ, Gillam LH, Warne GL, et al. Fertility in Turner syndrome. Clin Endocrinol (Oxf) 2013;79:606–14.10.1111/cen.12288Search in Google Scholar
32. Van Pareren YK, De Muinck Keizer-Schrama SM, Stijnen T, Sas TC, Drop SL. Effect of discontinuation of long-term growth hormone treatment on carbohydrate metabolism and risk factors for cardiovascular disease in girls with Turner syndrome. J Clin Endocrinol Metab 2002;87:5442–8.10.1210/jc.2002-020789Search in Google Scholar
33. Wooten N, Bakalov VK, Hill S, Bondy CA. Reduced abdominal adiposity and improved glucose tolerance in growth hormone-treated girls with Turner syndrome. J Clin Endocrinol Metab 2008;93:2109–14.10.1210/jc.2007-2266Search in Google Scholar
34. Silverman BL, Friedlander JR. Is growth hormone good for the heart? J Pediatr 1997;131:S70–4.10.1016/S0022-3476(97)70016-7Search in Google Scholar
35. Bondy C, Bakalov VK, Lange ED, Ceniceros I. Deficient medical care for adults with the Turner syndrome. Ann Intern Med 2006;145:866–7.10.7326/0003-4819-145-11-200612050-00020Search in Google Scholar
36. Taback SP, Collu R, Deal CL, Guyda HJ, Salisbury S, et al. Does growth-hormone supplementation affect adult height in Turner’s syndrome? Lancet 1996;348:25–7.10.1016/S0140-6736(96)01267-6Search in Google Scholar
37. Van Pareren YK, de Muinck Keizer-Schrama SM, Stijnen T, Sas TC, Jansen M, et al. Final height in girls with turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. J Clin Endocrinol Metab 2003;88:1119–25.10.1210/jc.2002-021171Search in Google Scholar
38. Rosenfeld RG, Attie KM, Frane J, Brasel JA, Burstein S, et al. Growth hormone therapy of Turner’s syndrome: beneficial effect on adult height. J Pediatr 1998;132:319–24.10.1016/S0022-3476(98)70452-4Search in Google Scholar
39. Ranke MB, Partsch CJ, Lindberg A, Dorr HG, Bettendorf M, et al. Adult height after GH therapy in 188 Ullrich-Turner syndrome patients: results of the German IGLU Follow-up Study 2001. Eur J Endocrinol 2002;147:625–33.10.1530/eje.0.1470625Search in Google Scholar PubMed
40. Hochberg Z, Zadik Z. Final height in young women with Turner syndrome after GH therapy: an open controlled study. Eur J Endocrinol 1999;141:218–24.10.1530/eje.0.1410218Search in Google Scholar PubMed
41. Park HK, Lee HS, Ko JH, Hwang IT, Hwang JS. Response to three years of growth hormone therapy in girls with Turner syndrome. Ann Pediatr Endocrinol Metab 2013;18:13–8.10.6065/apem.2013.18.1.13Search in Google Scholar PubMed PubMed Central
42. Davenport ML. Evidence for early initiation of growth hormone and transdermal estradiol therapies in girls with Turner syndrome. Growth Horm IGF Res 2006;16(Suppl A):S91–7.10.1016/j.ghir.2006.04.002Search in Google Scholar PubMed
43. Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, et al. Turner syndrome: four challenges across the lifespan. Am J Med Genet A 2005;139A:57–66.10.1002/ajmg.a.30911Search in Google Scholar PubMed PubMed Central
©2015 by De Gruyter
Articles in the same Issue
- Frontmatter
- Highlight: Turner syndrome
- Turner syndrome – working together with patients and their families
- Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)
- Inhibin B in adolescents and young adults with Turner syndrome
- Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience
- Retrospective evaluation of pubertal development and linear growth of girls with Turner Syndrome treated with oral and transdermal estrogen
- Turner syndrome in Albania and the efficacy of its treatment with growth hormone
- Review articles
- The relation of vitamin D status with metabolic syndrome in childhood and adolescence: an update
- Putting the pieces together: cryptorchidism – do we know everything?
- Original articles
- Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
- Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
- Association of physical activity level with depression, anxiety, and quality of life in children with type 1 diabetes mellitus
- Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
- The effect of intraoperative administration of dexamethasone for PONV prophylaxis on perioperative blood glucose level in obese and normal weight children
- Are obesity and metabolic syndrome associated with plasma adropin levels in children?
- Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy
- Comparison of energy expenditure, body composition, metabolic disorders, and energy intake between obese children with a history of craniopharyngioma and children with multifactorial obesity
- Effect of serum cholesterol on bone mineral density in normal-weight children and adolescents
- Assessment of bone turnover markers and bone mineral density in normal short boys
- Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?
- Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets
- Children with hyperthyroidism younger than age 7 require higher mg/kg doses of methimazole to normalize free T4 compared to older children
- Effects of bisphosphonates to treat osteoporosis in children with cerebral palsy: a meta-analysis
- AMH levels at central precocious puberty and premature thelarche: is it a parameter?
- Validating Paediatric Morphometrics: body proportion measurement using photogrammetric anthropometry
- Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome
- Short communication
- Pilot study on the dietary habits and lifestyles of girls with idiopathic precocious puberty from the city of Rome: potential impact of exposure to flame retardant polybrominated diphenyl ethers
- Patient reports
- Hypomagnesemia due to two novel TRPM6 mutations
- A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome
- Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine
- Anaphylaxis to gonadorelin acetate in a girl with central precocious puberty
- Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia
Articles in the same Issue
- Frontmatter
- Highlight: Turner syndrome
- Turner syndrome – working together with patients and their families
- Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)
- Inhibin B in adolescents and young adults with Turner syndrome
- Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience
- Retrospective evaluation of pubertal development and linear growth of girls with Turner Syndrome treated with oral and transdermal estrogen
- Turner syndrome in Albania and the efficacy of its treatment with growth hormone
- Review articles
- The relation of vitamin D status with metabolic syndrome in childhood and adolescence: an update
- Putting the pieces together: cryptorchidism – do we know everything?
- Original articles
- Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
- Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
- Association of physical activity level with depression, anxiety, and quality of life in children with type 1 diabetes mellitus
- Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
- The effect of intraoperative administration of dexamethasone for PONV prophylaxis on perioperative blood glucose level in obese and normal weight children
- Are obesity and metabolic syndrome associated with plasma adropin levels in children?
- Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy
- Comparison of energy expenditure, body composition, metabolic disorders, and energy intake between obese children with a history of craniopharyngioma and children with multifactorial obesity
- Effect of serum cholesterol on bone mineral density in normal-weight children and adolescents
- Assessment of bone turnover markers and bone mineral density in normal short boys
- Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?
- Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets
- Children with hyperthyroidism younger than age 7 require higher mg/kg doses of methimazole to normalize free T4 compared to older children
- Effects of bisphosphonates to treat osteoporosis in children with cerebral palsy: a meta-analysis
- AMH levels at central precocious puberty and premature thelarche: is it a parameter?
- Validating Paediatric Morphometrics: body proportion measurement using photogrammetric anthropometry
- Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome
- Short communication
- Pilot study on the dietary habits and lifestyles of girls with idiopathic precocious puberty from the city of Rome: potential impact of exposure to flame retardant polybrominated diphenyl ethers
- Patient reports
- Hypomagnesemia due to two novel TRPM6 mutations
- A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome
- Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine
- Anaphylaxis to gonadorelin acetate in a girl with central precocious puberty
- Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia
