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DOI: 10.1055/s-0031-1277140
© J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York
Long Term Clinical Management of Girls with Turner Syndrome at a Center of Pediatric Endocrinology
Publication History
received 21.09.2010
first decision 26.01.2011
accepted 04.04.2011
Publication Date:
06 May 2011 (online)
Abstract
Aim: To evaluate clinical management of patients with Turner syndrome in one center over a long period.
Methods: Retrospective analysis of 89 patients cared for between 1974 and 2004. Assessment of age and height at diagnosis, indications for karyotyping, induction of puberty and final height attainment.
Results: Average age at diagnosis was 8.21 years, with a significant decline over the observation period. Mean height SDS at diagnosis was −2.86. Main reasons for karyotyping were edema in youngest ages and growth retardation in ages older than 6 years. Puberty induction was started at a mean age of 13.93 years, with a significant decline over the observation period. Mean duration until menarche was 2.51 years. An appropriate clinical response with changes in Tanner stages was observed. Mean final height after GH therapy was 151.81 cm, height SDS for TS was increased by +1.82.
Conclusions: In recent study years, Turner Syndrome is being diagnosed at younger ages and at heights closer to normal heights. The clinical spectrum warrants karyotyping at an early age. In spite of late diagnoses, puberty induction was started within a physiological age in recent years and was, just as GH therapy, successful to mimic physiological progress in most instances.
Key words
Turner syndrome - age at diagnosis - height at diagnosis - induction of puberty - long term observation
References
- 1 Ankarberg-Lindgren C, Elfving M, Wikland KA. et al . Nocturnal application of transdermal estradiol patches produces levels of estradiol that mimic those seen at the onset of spontaneous puberty in girls. J Clin Endocrinol Metab. 2001; 86 3039-3044
- 2 Bilge I, Kayserili H, Emre S. et al . Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children. Pediatr Nephrol. 2000; 14 1111-1114
- 3 Bondy CA. New issues in the diagnosis and management of Turner syndrome. Rev Endocr Metab Disord. 2005; 6 269-280
- 4 Bondy CA. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007; 92 10-25
- 5 Bondy CA. Turner syndrome 2008. Horm Res. 2009; 71 (Suppl 1): 52-56
- 6 Chernausek SD, Attie KM, Cara JF. et al . Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group. J Clin Endocrinol Metab. 2000; 85 2439-2445
- 7 Conway GS. The impact and management of Turner's syndrome in adult life. Best Pract Res Clin Endocrinol Metab. 2002; 16 243-261
- 8 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-S97
- 9 Drobac S, Rubin K, Rogol AD. et al . A workshop on pubertal hormone replacement options in the United States. J Pediatr Endocrinol Metab. 2006; 19 55-64
- 10 Dulac Y, Pienkowski C, Abadir S. et al . Cardiovascular abnormalities in Turner's syndrome: what prevention?. Arch Cardiovasc Dis. 2008; 101 485-490
- 11 Fredriks AM, van Buuren S, Burgmeijer RJ. et al . Continuing positive secular growth change in The Netherlands 1955–1997. Pediatr Res. 2000; 47 316-323
- 12 Gravholt CH, Juul S, Naeraa RW. et al . Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ. 1996; 312 16-21
- 13 Gravholt CH, Juul S, Naeraa RW. et al . Morbidity in Turner syndrome. J Clin Epidemiol. 1998; 51 147-158
- 14 Gravholt CH, Naeraa RW, Nyholm B. et al . Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner's syndrome. The impact of sex hormone replacement. Diabetes Care. 1998; 21 1062-1070
- 15 Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol. 2004; 151 657-687
- 16 Greulich W, Pyle S. Radiographic atlas of skeletal development of the hand and wrist. 2nd edn. Stanford: Stanford University Press; 1959
- 17 Kiess W, Conway G, Ritzen M. et al . Induction of puberty in the hypogonadal girl – practices and attitudes of pediatric endocrinologists in Europe. Horm Res. 2002; 57 66-71
- 18 Kromeyer-Hauschild K, Wabitsch M, Kunze D. et al . Perzentile für den Body-mass-Index für das Kindes- und Jugendalter unter Heranziehung verschiedener deutscher Stichproben. Monatsschr Kinderheilkd. 2001; 149 807-818
- 19 Massa G, Verlinde F, De Schepper J. et al . Trends in age at diagnosis of Turner syndrome. Arch Dis Child. 2005; 90 267-268
- 20 Meng H, Hager K, Rivkees SA. et al . Detection of Turner syndrome using high-throughput quantitative genotyping. J Clin Endocrinol Metab. 2005; 90 3419-3422
- 21 de Muinich Keizer SM, Mul D. Trends in pubertal development in Europe. Hum Reprod Update. 2001; 7 287-291
- 22 Nabhan ZM, Dimeglio LA, Qi R. et al . Conjugated oral versus transdermal estrogen replacement in girls with Turner syndrome: a pilot comparative study. J Clin Endocrinol Metab. 2009; 94 2009-2014
- 23 van Pareren YK, de Muinck Keizer-Schrama SMPF, Stijnen T. 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 1119-1125
- 24 Pasquino AM, Passeri F, Pucarelli I. et al . Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome. J Clin Endocrinol Metab. 1997; 82 1810-1813
- 25 Piippo S, Lenko H, Kainulainen P. et al . Use of percutaneous estrogen gel for induction of puberty in girls with Turner syndrome. J Clin Endocrinol Metab. 2004; 89 3241-3247
- 26 Quigley CA, Crowe BJ, Anglin DG. et al . Growth hormone and low dose estrogen in Turner syndrome: results of a United States multi-center trial to near-final height. J Clin Endocrinol Metab. 2002; 87 2033-2041
- 27 Ramos AV, Silva IN, Goulart EMA. Turner syndrome: searching for better outcomes. Clinics (Sao Paulo). 2008; 63 173-178
- 28 Ranke MB, Stubbe P, Majewski F. et al . Spontaneous growth in Turner's syndrome. Acta Paediatr Scand. 1988; (Supplement 343): 22-30
- 29 R Development Core Team . R: A language and environment for statistical computing. R Foundation for Statistical Computing. 2008;
- 30 Rosenfield R, Kiess W, Keizer-Schrama S. Physiologic induction of puberty in Turner syndrome with very low-dose estradiol. In: Gravholt, CH, Bondy, CA (eds). Wellness for girls and women with Turner syndrome – Proceedings of the Consensus Conference 1 st edn. Amsterdam: Elsevier; 2006: 71-79
- 31 Rosenfield RL, Fang VS. The effects of prolonged physiologic estradiol therapy on the maturation of hypogonadal teen-agers. J Pediatr. 1974; 85 830-837
- 32 Rosenfield RL, Devine N, Hunold JJ. et al . Salutary effects of combining early very low-dose systemic estradiol with growth hormone therapy in girls with Turner syndrome. J Clin Endocrinol Metab. 2005; 90 6424-6430
- 33 Sävendahl L, Davenport ML. Delayed diagnoses of Turner's syndrome: proposed guidelines for change. J Pediatr. 2000; 137 455-459
- 34 Schoemaker MJ, Swerdlow AJ, Higgins CD. et al . Mortality in women with turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab. 2008; 93 4735-4742
- 35 Simm D, Degenhardt K, Gerdemann C. et al . Chronological age of patients with Turner syndrome at diagnosis. Klin Padiatr. 2008; 220 16-20
- 36 Soriano-Guillen L, Coste J, Ecosse E. et al . Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone. J Clin Endocrinol Metab. 2005; 90 5197-5204
- 37 Stephure DK. Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab. 2005; 90 3360-3366
- 38 Stochholm K, Juul S, Juel K. et al . Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006; 91 3897-3902
- 39 Tanner JM. Normal growth and techniques of growth assessment. Clin Endocrinol Metab. 1986; 15 411-451
Correspondence
W. KiessMD
Hospital for Children and
Adolescents
University of Leipzig
Liebigstraße 20a
04103 Leipzig
Germany
Phone: +49/341/97 26 000
Fax: +49/341/97 26 009
Email: wieland.kiess@medizin.uni-leipzig.de