Turner's syndrome in Italy: familial characteristics, neonatal data, standards for birth weight and for height and weight from infancy to adulthood

Bernasconi, Sergio; Larizza, Daniela; Benso, L; Volta, C.; Vannelli, Silvia; Milani, Silvano; Aicardi, Giorgio; Berardi, Rosario; Borrelli, P.; Boscherini, B; Pasquino, A. M.; Buzi, Fabio; Cacciari, E; Mazzanti, Laura; Cavallo, Luciano; Chiumello, G; Nizzoli, G; Dammacco, F; DeLuca, Frank G.; Dematteis, Francesca; DeSanctis, C; Matarazzo, Patrizia; Desanctis, Vincenzo; DiMaio, S.; Gabrielli, O.; Giovannelli, G; Balestrazzi, P.; Klain, U; Morabito, F.; Mazzilli, G; Pintor, C.; Radetti, Giorgio; Rigon, F.; Licursi, A; Saggese, Giuseppe; Severi, F; S, Lamanna; Spada, Ana Paula Machado; Stoppoloni, G; Tatò, Luciano; GTonini,

doi:10.1111/j.1651-2227.1994.tb18097.x

Cited by 51 publications

(48 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The FH of the treated versus the untreated group was significantly higher (1.0 ± 1.6 vs. -0.2 ± 1.1; p < 0.05). According to Italian Turner syndrome girl standards [11], the FH as SDS (0.9 ± 1.2) was significantly higher than before treatment (0.1 ± 1.0, p < 0.05) and at the first observation (0.1 ± 0.3, p < 0.01). The FH of the treated versus the untreated group was significantly higher (0.9 ± 1.2 vs. 0.04 ± 0.8, p < 0.05).…”

Section: Resultsmentioning

confidence: 98%

“…In comparison with the Italian cross-sectional stan dards [11], where the mean final height is 142.5 ± 7.0 cm. the mean FH of the control group was similar (142.2 ± 4.9 cm), whereas the rhGH-treated group showed a FH of 147.6 ± 7.3 cm with a mean increment of about 5 cm.…”

Section: 001)mentioning

confidence: 99%

“…The height SDS was evaluated using Lyon standards for Turner syndrome [10] and unpublished SDS for Italian Turner syndrome girls derived from a multicenter study [11].…”

Section: Patients and M Ethodsmentioning

confidence: 99%

See 2 more Smart Citations

Final Height in Turner Syndrome Patients Treated with Growth Hormone

et al. 1996

View full text Add to dashboard Cite

Growth hormone (GH), alone or in combination with anabolic steroids, seems to improve the growth rate in Turner syndrome, but to exert a less striking effect on the final height (FH). Reports on the FH usually lack a control group, and the GH effect is determined using the gain in centimeters over projected height. Out of a cohort of 32 Turner syndrome girls under recombinant human GH (rhGH) therapy (0.5 IU/kg/week during the 1st year and 1 IU/kg/week subsequently), 18 (treated for 3-6 years) attained FH. The mean chronological age at the first examination was 9.6 ± (SD) 2.1 years and at the start of GH therapy 13.0 ± 2.0 (range 8.8-17.2) years. Eighteen untreated subjects matched for chronological age and karyotype served as control group. The FH as SDS according to Lyon and to unpublished Italian Turner syndrome girl standards was not significantly different as compared with pretreatment. In comparison with Italian cross-sectional Turner syndrome standards (FH 142.5 ± 7.0 cm), the FH of the control group was quite similar (142.2 ± 4.9 cm), whereas the rhGH-treated group showed a FH of 147.6 ± 7.3 cm with a mean increment of about 5 cm. The height gain during therapy (as delta height in SDS either according to Lyon or to Italian SDS standards) was compared for each girl with that of a matched girl of the control group during a comparable observation period. A significantly different delta height was observed in the treated versus control groups: 0.3 ± 1.1 vs. -1.0 ± 0.8 according to Lyon (p < 0.001) and 0.8 ± 0.7 vs -0.3 ± 0.5 according to Italian standards (p < 0.001). If we compared the FH with the projected height according to Lyon standards, the height gain (as delta height in cm) was significantly higher than in the untreated subjects (-1.1 ± 4.8 vs. -6.2 ± 3.9 cm; p < 0.05). It seems worthwile to undertake GH treatment in Turner syndrome girls who represent a very short statured population, even though the response is less significant than in classic GH deficiency and shows a striking variability, probably due to a sort of peripheral resistance.

show abstract

Section: Resultsmentioning

confidence: 98%

Section: 001)mentioning

confidence: 99%

See 1 more Smart Citation

Final Height in Turner Syndrome Patients Treated with Growth Hormone

et al. 1996

View full text Add to dashboard Cite

show abstract

“…Conclusion: The retardation of growth in TS occurs mainly on the longitudinal axis, and the results showed in this study are similar to the Danish report. (1) [altura final entre 142 e 147cm (2), variando de acordo com a altura dos pais (3,4) e com a população estudada (5)(6)(7)(8)(9)], e a disgenesia gonadal, levando a atraso no desenvolvimento puberal, amenorréia primária e esterilidade (10). Podem ocorrer algumas anomalias congênitas e adquiridas, como cardiovasculares e renais, deficiência auditiva, hipertensão, doenças tireoidianas, osteoporose e obesidade, entre outras.…”

unclassified

Proporções corporais em um grupo de pacientes brasileiras com Síndrome de Turner

Baldin¹,

Armani²,

Morcillo³

et al. 2005

Arq Bras Endocrinol Metab

View full text Add to dashboard Cite

RESUMOObjetivo: Trata-se do primeiro estudo brasileiro com o objetivo de avaliar as proporções corporais de pacientes com síndrome de Turner (ST) não tratadas com hormônio de crescimento. Métodos: Estudo transversal de 50 pacientes com ST (5 a 43 anos), avaliando-se idade, cariótipo, desenvolvimento puberal e medidas de estatura em pé e sentada, envergadura, peso, IMC, perímetro cefálico, mão e pé, perna, relação entre cintura e quadril, diâmetros biacromial e bi-ilíaco. Transformação dos dados em escore z de desvio-padrão. Realizada análise descritiva e aplicados o teste de Mann-Whitney e a análise de variância. Resultados: Não foram observadas diferenças das variáveis em relação aos carióti-pos: 22 eram impúberes e 28 púberes, e todas as variáveis em valores absolutos foram significativamente maiores na puberdade. Não foram observadas diferenças em relação aos escores z das variáveis analisadas em relação à puberdade. Todas as variáveis apresentaram escores z médios acima de -2, com exceção da estatura em pé e envergadura nas impúberes e também da estatura sentada e da mão nas púberes. O mesmo foi observado quando se analisou as 15 pacientes com idade > 20 anos, sendo apenas o peso, o IMC e os diâmetros biacromial e bi-ilíaco significativamente menores que os dados dinamarqueses de Gravholt e Naeera de 1997. Conclusão: O comprometimento de crescimento na ST ocorre fundamentalmente no eixo longitudinal, e os resultados observados neste estudo são comparáveis aos dinamarqueses. Objective: The first Brazilian study aimed to evaluate body proportions in patients with Turner Syndrome (TS) with no growth hormone treatment. Methods: A cross-sectional study with 50 TS patients (5 to 43 years) evaluating age, karyotype, pubertal development, height, sitting height, arm span, weight, BMI, head circumference, length of hand, foot and leg, waist to hip ratio, biacromial and biiliac diameters. The data were transformed in score z. A descriptive analysis was done and Mann-Whitney test and analysis of variance was applied. Results: Twenty-eight patients were pubertal and 22 nonpubertal, and all of the absolute measurements were significantly increased in the former. There were no significant differences of the antropometric findings according to the karyotype and puberty, in relation to score z data. The SD scores of all variables showed means above -2, except height and arm span in the nonpubertal patients and also sitting height and hand in the pubertal patients. The same result was observed when only the patients > 20 years artigos originais

show abstract

“…The clinical characteristics of TS can include dysmorphic features, gonadal dysgenesis and malformation of internal organs, as well as short stature, the most common feature [1, 2]. Growth hormone (GH) deficiency has not always been recognized as a cause of short stature in patients with TS [3, 4], but GH therapy is the accepted treatment.…”

Section: Introductionmentioning

confidence: 99%

Turner Syndrome, Insulin Sensitivity and Growth Hormone Treatment

Mazzanti

Bergamaschi²,

Castiglioni³

et al. 2005

Horm Res Paediatr

View full text Add to dashboard Cite

Mild insulin resistance appears to be an early metabolic defect in girls with Turner syndrome (TS). Impaired glucose tolerance has been reported in 10–34% of patients with TS, and type 2 diabetes mellitus is 2–4 times more common and occurs at a younger age in girls with TS than in the general population. In a mixed longitudinal and cross-sectional study, we analysed carbohydrate tolerance and insulin sensitivity in 46 children and adolescents with TS who reached their final height after long-term treatment (mean 6.3 ± 2.5 years) with growth hormone (GH: 0.33 mg/kg/week [0.05 mg/kg/day]), and in 36 of these patients who were followed-up after the cessation of GH therapy (mean follow-up, 2.6 ± 2.5 years; range, 1–9.5 years). Patients with TS were compared with an age-matched female control group. Insulin sensitivity appeared to be lower in patients with TS than in controls, even before the start of GH therapy. As in controls, insulin sensitivity decreased with age in patients with TS, and levels were lower in those aged >12 years than in those aged <12 years. GH therapy resulted in good catch-up growth in patients with TS, with final height significantly higher than projected height evaluated before the initiation of GH therapy. Insulin sensitivity increased after 7–8 years of therapy and, on the cessation of GH therapy, returned to pre-treatment levels. The increase in insulin sensitivity seen on the cessation of GH therapy appeared to be influenced negatively by body mass index and triglyceride levels, and correlated positively with the number of years since cessation of GH therapy. As in the general population, excess weight and an abnormal lipid profile, in particular excess triglyceride levels, worsened insulin sensitivity. In conclusion, our study confirms that GH therapy reduces insulin sensitivity, but at its cessation there is a return to pre-therapy values. We therefore report a progressive improvement in carbohydrate tolerance and insulin function in patients with TS, despite an increase in age.

show abstract

Turner's syndrome in Italy: familial characteristics, neonatal data, standards for birth weight and for height and weight from infancy to adulthood

Cited by 51 publications

References 20 publications

Final Height in Turner Syndrome Patients Treated with Growth Hormone

Final Height in Turner Syndrome Patients Treated with Growth Hormone

Proporções corporais em um grupo de pacientes brasileiras com Síndrome de Turner

Turner Syndrome, Insulin Sensitivity and Growth Hormone Treatment

Contact Info

Product

Resources

About