Mohn, Angelika
[VerfasserIn];
Marcovecchio, Maria Loredana
[VerfasserIn];
de Giorgis, Tommaso
[VerfasserIn];
Pfaeffle, Roland
[VerfasserIn];
Chiarelli, Francesco
[VerfasserIn]
An Insulin-Like Growth Factor-I Receptor Defect Associated with Short Stature and Impaired Carbohydrate Homeostasis in an Italian Pedigree
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Medientyp:
E-Artikel
Titel:
An Insulin-Like Growth Factor-I Receptor Defect Associated with Short Stature and Impaired Carbohydrate Homeostasis in an Italian Pedigree
Beteiligte:
Mohn, Angelika
[VerfasserIn];
Marcovecchio, Maria Loredana
[VerfasserIn];
de Giorgis, Tommaso
[VerfasserIn];
Pfaeffle, Roland
[VerfasserIn];
Chiarelli, Francesco
[VerfasserIn]
Anmerkungen:
Hinweis: Link zur Erstveröffentlichung URL: https://dx.doi.org/10.1159/000324957
Beschreibung:
Mutations in the insulin-like growth factor-I
(IGF-I) receptor (IGF1R) have been associated with prenatal
and postnatal growth retardation. However, little is known about potential effects of mutations in the IGF1R on carbohydrate
homeostasis. Methods: We investigated clinical, endocrine
and metabolic parameters in four family members
carrying a novel IGF1R mutation (p.Tyr387X): an 18-year-old
male (index case), his sister and two paternal aunts. Results:
All family members showed a variable degree of impairment
in prenatal growth, with birth weight standard deviation
scores (SDS) between –1.65 and –2.37 and birth length SDS
between –1.78 and –3.08. Their postnatal growth was also
impaired, with height SDS between –1.75 and –4.86. The index case presented high IGF-I levels during childhood and
adolescence and delayed bone age. The index case and his
two paternal aunts had impaired glucose tolerance (IGT) associated
with a variable degree of alterations in insulin sensitivity
and secretion. In contrast, the index case’s sister, who
had had IGT during pregnancy, showed normal glucose metabolism
but reduced insulin sensitivity. Conclusion: This is
the first study showing an association between a novel IGF1R
mutation and a variable degree of alterations in prenatal and
postnatal growth and in carbohydrate metabolism.