In GH-treated girls with Turner syndrome height prognosis may sometimes exceed target height: a case report
DOI:
https://doi.org/10.6092/1828-6550/APMB.105.2.2017.A4Parole chiave:
Turner syndrome, GH therapy, adult heightAbstract
A 5-years-old girl was diagnosed with Turner syndrome (TS) during a diagnostic work-up for short stature and dysmorphic features. Chromosome analysis revealed rare X-chromosomal abnormalities 46 Xt (13:X) (p12:q24). GH therapy was started at the age of 5.5 years, and continued for 7 years with a fixed dose of 0.33 mg/kg/week, until adult height (AH) achievement. Six-monthly assessment of height standard deviation score and height velocity was performed under therapy, evaluating a prepubertal height gain of 31.7 cm and pubertal height gain of 20 cm. She achieved an AH of 159.3 cm, better than her target height (156.8 cm). In addition, she underwent spontaneous puberty at the age of 9.6 years, completed with menarche at 11.6 years and followed by regular menstrual cycles. During GH treatment, IGF-1, insulin and glucose blood levels remained within a normal range. The early onset of GH therapy may have allowed such a successful height outcome, with the achievement of full stature recovery during childhood and puberty in this TS case. The rare karyotype of our patient may also positively influenced her height final result.Riferimenti bibliografici
International Turner Syndrome Consensus Group (2017) Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol,177,G1-G70.doi:10.1530/EJE-17-0430.
Pasquino,A.M., Passeri,F., Pucarelli,I., Segni,M., Municchi,G. (1997) Spontaneous pubertal development in Turner's syndrome. J Clin Endocrinol Metab, 82,1810-3. doi: 10.1210/jcem.82.6.3970.
Baxter,L., Bryant,J., Cave,C.B., Milne,R. (2007) Recombinant growth hormone for children and adolescents with Turner syndrome. Cochrane Database of Systematic Reviews, 1,CD003887.doi: 10.1002/14651858.CD003887.pub2.
Stephure,D.K., Canadian Growth Hormone Advisory Committee. (2005) Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab, 90,3360-6. doi:10.1210/jc.2004-2187.
Ross,J.L., Quigley,C.A., Cao,D., Feuillan,P., Kowal,K., Chipman,J.J., Cutler,G.B.Jr. (2011) Growth hormone plus childhood low-dose estrogen in Turner's syndrome. N Engl J Med, 364,1230-42. doi:10.1056/NEJMoa1005669.
Carel,J.C., Mathivon,L., Gendrel,C., Ducret,J.P., Chaussain,J.L. (1998) Near normalization of final height with adapted doses of growth hormone in Turner's syndrome. J Clin Endocrinol Metab, 83,1462-6. doi:10.1210/jcem.83.5.4777.
Sas,T.C., de Muinck Keizer-Schrama,S.M., Stijnen,T., Jansen,M., Otten,B.J., HoorwegNijman,J.J.,Vulsma,T., Massa,G.G., Rouwe,C.W., Reeser,H.M., Gerver,W.J.,Gosen,J.J.,Rongen Westerlaken,C.,Drop,S.L. (1999) Normalization of height in girls with Turner syndrome after long-term growth hormone treatment:results of a randomized dose-response trial. J Clin Endocrinol Metab, 84,460712 . doi:10.1210/jcem.84.12.624.
Van Pareren,Y.K., de Muinck Keizer-Schrama,S.M., Stijnen,T., Sas,T.C., Jansen,M., Otten,B.J., Hoorweg-Nijman,J.J., Vulsma,T., Stokvis-Brantsma, W.H., Rouwé,C.W., Reeser,H.M, Gerver,W.J., Gosen,J.J., Rongen-Westerlaken,C., Drop,S.L. (2003) Final height in girls with turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. J Clin Endocrinol Metab, 88,1119-25. doi:10.1210/jc.2002-021171.
Hasegawa,Y., Ariyasu,D., Izawa,M., Igaki-Miyamoto,J., Fukuma,M., Hatano,M., Yagi,H., Goto,M. (2017) Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD. Endocr J,64,221-227. doi:10.1507/endocrj.EJ16-0170.
Wasniewska,M., De Luca,F., Bergamaschi,R., Guarneri,M.P., Mozzanti,L., Matarazzo,P., Petri,A., Crisafulli,G., Salzano,G., Lombardo,F. (2004) Early treatment with GH alone in Turner syndrome: prepubertal catch-up growth and waning effect. Eur J Endocrinol, 151, 567-72. doi: 10.1530/eje.0.1510567.
Wasniewska,M., Aversa,T., Mazzanti,L., Guarneri,M.P., Matarazzo,P., De Luca,F., Lombardo,F., Messina,M.F., Valenzise,M. (2013) Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose. Eur J Endocrinol, 169,439-43.doi: 10.1530/EJE-12-1032.
Ranke,M.B., Lindberg,A., Ferrández Longás,A., Darendeliler,F., Albertsson-Wikland,K., Dunger,D., Cutfield,W.S., Tauber,M., Wilton,P.,Wollmann,H.A., Reiter,E.O.; KIGS International Board. (2007) Major determinants of height development in Turner syndrome (TS) patients treated with GH: analysis of 987 patients from KIGS. Pediatr Res, 61,105-10. doi:10.1203/01.pdr.0000250039.42000.c9.
Dowloads
Pubblicato
Fascicolo
Sezione
Licenza

This work is licensed under a Creative Commons Attribution 4.0 International License.
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).