Abstract
Williams syndrome (WS) is a rare, multisystemic genomic disorder showing a high prevalence of impaired glucose metabolism in adulthood. The reason for this association is unknown, though hemizygosity for genes mapping to the WS chromosome region has been implicated. Twenty-two Italian young adults with WS (13 females, 9 males) were studied. A 75g oral glucose tolerance test (OGTT) was performed and β-cell function was estimated with Homeostasis Model Assessment (HOMA)-B%, Insulinogenic Index, and corrected insulin response whereas insulin sensitivity was assessed with HOMA-Insulin Resistance Index, Quantitative Insulin Check Index, and composite Insulin Sensitivity Index. One patient had known diabetes mellitus (DM), whereas impaired glucose tolerance (IGT) was diagnosed in 12 patients and DM in one (63.6% prevalence of impaired glucose metabolism). IGT patients were more insulin resistant than those with normal glucose tolerance (NGT), whereas β-cell function was unchanged or increased. Islet autoimmunity was absent. Logistic regression showed that impaired glucose metabolism was not associated with age, body mass index (BMI), or family history of DM. β-cell function, insulin sensitivity, and post-load insulin levels did not differ between WS patients with NGT and healthy controls comparable for gender, age, and BMI, though WS-NGT patients had higher post-load glucose values. These data confirm the high prevalence of impaired glucose metabolism in WS young adults, thus suggesting the need for screening these patients with OGTT. IGT is associated with reduced insulin sensitivity, but not with impaired β-cell function, islet autoimmunity, and traditional risk factors for type 2 DM.
| Original language | English |
|---|---|
| Pages (from-to) | 817-821 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 161 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 2013 |
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Keywords
- Management adult patients
- Rare disease
- Williams syndrome, diabetes, pre-diabetes
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome. / Masserini, Benedetta; Bedeschi, Maria Francesca; Bianchi, Vera; Scuvera, Giulietta; Beck-Peccoz, Paolo; Lalatta, Faustina; Selicorni, Angelo; Orsi, Emanuela.
In: American Journal of Medical Genetics, Part A, Vol. 161, No. 4, 04.2013, p. 817-821.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome
AU - Masserini, Benedetta
AU - Bedeschi, Maria Francesca
AU - Bianchi, Vera
AU - Scuvera, Giulietta
AU - Beck-Peccoz, Paolo
AU - Lalatta, Faustina
AU - Selicorni, Angelo
AU - Orsi, Emanuela
PY - 2013/4
Y1 - 2013/4
N2 - Williams syndrome (WS) is a rare, multisystemic genomic disorder showing a high prevalence of impaired glucose metabolism in adulthood. The reason for this association is unknown, though hemizygosity for genes mapping to the WS chromosome region has been implicated. Twenty-two Italian young adults with WS (13 females, 9 males) were studied. A 75g oral glucose tolerance test (OGTT) was performed and β-cell function was estimated with Homeostasis Model Assessment (HOMA)-B%, Insulinogenic Index, and corrected insulin response whereas insulin sensitivity was assessed with HOMA-Insulin Resistance Index, Quantitative Insulin Check Index, and composite Insulin Sensitivity Index. One patient had known diabetes mellitus (DM), whereas impaired glucose tolerance (IGT) was diagnosed in 12 patients and DM in one (63.6% prevalence of impaired glucose metabolism). IGT patients were more insulin resistant than those with normal glucose tolerance (NGT), whereas β-cell function was unchanged or increased. Islet autoimmunity was absent. Logistic regression showed that impaired glucose metabolism was not associated with age, body mass index (BMI), or family history of DM. β-cell function, insulin sensitivity, and post-load insulin levels did not differ between WS patients with NGT and healthy controls comparable for gender, age, and BMI, though WS-NGT patients had higher post-load glucose values. These data confirm the high prevalence of impaired glucose metabolism in WS young adults, thus suggesting the need for screening these patients with OGTT. IGT is associated with reduced insulin sensitivity, but not with impaired β-cell function, islet autoimmunity, and traditional risk factors for type 2 DM.
AB - Williams syndrome (WS) is a rare, multisystemic genomic disorder showing a high prevalence of impaired glucose metabolism in adulthood. The reason for this association is unknown, though hemizygosity for genes mapping to the WS chromosome region has been implicated. Twenty-two Italian young adults with WS (13 females, 9 males) were studied. A 75g oral glucose tolerance test (OGTT) was performed and β-cell function was estimated with Homeostasis Model Assessment (HOMA)-B%, Insulinogenic Index, and corrected insulin response whereas insulin sensitivity was assessed with HOMA-Insulin Resistance Index, Quantitative Insulin Check Index, and composite Insulin Sensitivity Index. One patient had known diabetes mellitus (DM), whereas impaired glucose tolerance (IGT) was diagnosed in 12 patients and DM in one (63.6% prevalence of impaired glucose metabolism). IGT patients were more insulin resistant than those with normal glucose tolerance (NGT), whereas β-cell function was unchanged or increased. Islet autoimmunity was absent. Logistic regression showed that impaired glucose metabolism was not associated with age, body mass index (BMI), or family history of DM. β-cell function, insulin sensitivity, and post-load insulin levels did not differ between WS patients with NGT and healthy controls comparable for gender, age, and BMI, though WS-NGT patients had higher post-load glucose values. These data confirm the high prevalence of impaired glucose metabolism in WS young adults, thus suggesting the need for screening these patients with OGTT. IGT is associated with reduced insulin sensitivity, but not with impaired β-cell function, islet autoimmunity, and traditional risk factors for type 2 DM.
KW - Management adult patients
KW - Rare disease
KW - Williams syndrome, diabetes, pre-diabetes
UR - http://www.scopus.com/inward/record.url?scp=84875500403&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84875500403&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.35655
DO - 10.1002/ajmg.a.35655
M3 - Article
C2 - 23495209
AN - SCOPUS:84875500403
VL - 161
SP - 817
EP - 821
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -