Short stature for genetic background is a common feature of Prader-Willi syndrome (PWS). As far as final height (FH) is concerned, there is only a limited number of studies on the spontaneous height (H) development in PWS. Moreover, it has been suggested that patients with uniparental maternal disomy for chromosome 15 (UPD) may represent a subgroup of slow-growers among PWS subjects, when compared to patients with deletion of chromosome 15 (del15). Our focus was to assess the FH spontaneously reached in a large group of italian PWS patients as well as to investigate the influence on growth pattern of different genotypes.We examined 109 patients, 42M:87F, aged 18-45 yr, with the typical PWS clinical features. Seventy-eight subjects had del15, whereas UPD was found in 31 individuals. Standing H was measured with a Harpenden Stadiometer, and expressed both as cm and SDS (HSDS). We defined FH in our patients as when they showed a growth of 0 cm for at least 2 yr. Moreover, target height (TH) was calculated and expressed as SDS (THSDS). No PWS patient was previously treated with rhGH. The mean adult H reached by men and women with PWS were 154.9+1.0 cm and 145.4+0.8 cm, respectively. These values were below -2 HSDS for healthy subjects: men= -2.96+0.16; women= -2.8+0.14. Our results were lower than those observed in American as well as German PWS, and higher than Japanese subjects. In both sexes, the mean value of FH was below their THSDS: men= -0.38+0.14 (p<0.0001); women= -0.56+0.11 (p<0.0001). Moreover, 22 PWS adults (7M:15F, 18 del15: 4 UPD) had reached Hs within the normal range (-2 SDS and above). Finally, subjects with del15 did not differ from those with UPD: males= 154.7+1.3 cm vs 155.6+1.8 cm, and -3+0.2 HSDS vs -2.84+0.28 HSDS, respectively; females= 145.8+1.0 cm vs 144.5+1.2 cm, and -2.72+0.1 HSDS vs -2.95+0.2 HSDS, respectively.Our results indicate that: (a) 87 adults with PWS (79.8%) had reached FHs below the normal range; (b) FHs were similar in patients with del15 and UPD; (c) FH in PWS seems to be influenced by ethnic group.
Spontaneous adult height is not influenced by different genotypes in Prader-Willi syndrome / G., Grugni; L., Bosio; A., Corrias; T., De Toni; M., Delvecchio; E., Di Battista; A., Franzese; L., Gargantini; Iughetti, Lorenzo; C., Livieri; A., Naselli; C., Pagano; G., Radetti; L., Ragusa; A., Salvatoni; A., Sartorio; G., Trifirò; R., Vettor; A., Crinò. - In: HORMONE RESEARCH. - ISSN 0301-0163. - STAMPA. - 65 (S4):(2006), pp. 170-170. (Intervento presentato al convegno 45th Meeting dell’European Society of Pediatric Endocrinology tenutosi a Rotterdam nel 30 giugno-3 luglio 2006).
Spontaneous adult height is not influenced by different genotypes in Prader-Willi syndrome.
IUGHETTI, Lorenzo;
2006
Abstract
Short stature for genetic background is a common feature of Prader-Willi syndrome (PWS). As far as final height (FH) is concerned, there is only a limited number of studies on the spontaneous height (H) development in PWS. Moreover, it has been suggested that patients with uniparental maternal disomy for chromosome 15 (UPD) may represent a subgroup of slow-growers among PWS subjects, when compared to patients with deletion of chromosome 15 (del15). Our focus was to assess the FH spontaneously reached in a large group of italian PWS patients as well as to investigate the influence on growth pattern of different genotypes.We examined 109 patients, 42M:87F, aged 18-45 yr, with the typical PWS clinical features. Seventy-eight subjects had del15, whereas UPD was found in 31 individuals. Standing H was measured with a Harpenden Stadiometer, and expressed both as cm and SDS (HSDS). We defined FH in our patients as when they showed a growth of 0 cm for at least 2 yr. Moreover, target height (TH) was calculated and expressed as SDS (THSDS). No PWS patient was previously treated with rhGH. The mean adult H reached by men and women with PWS were 154.9+1.0 cm and 145.4+0.8 cm, respectively. These values were below -2 HSDS for healthy subjects: men= -2.96+0.16; women= -2.8+0.14. Our results were lower than those observed in American as well as German PWS, and higher than Japanese subjects. In both sexes, the mean value of FH was below their THSDS: men= -0.38+0.14 (p<0.0001); women= -0.56+0.11 (p<0.0001). Moreover, 22 PWS adults (7M:15F, 18 del15: 4 UPD) had reached Hs within the normal range (-2 SDS and above). Finally, subjects with del15 did not differ from those with UPD: males= 154.7+1.3 cm vs 155.6+1.8 cm, and -3+0.2 HSDS vs -2.84+0.28 HSDS, respectively; females= 145.8+1.0 cm vs 144.5+1.2 cm, and -2.72+0.1 HSDS vs -2.95+0.2 HSDS, respectively.Our results indicate that: (a) 87 adults with PWS (79.8%) had reached FHs below the normal range; (b) FHs were similar in patients with del15 and UPD; (c) FH in PWS seems to be influenced by ethnic group.
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