BMC Medical Genetics
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype
Maurizio de Martino3  Salvatore Seminara3  Francesco Chiarelli4  Marilena Pantaleo1  Elisabetta Lapi1  Stefano Stagi2 
[1]Genetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, Florence, Italy
[2]Paediatric Endocrinology Unit, Anna Meyer Children’s University Hospital, viale Pieraccini 24, Florence 50139, Italy
[3]Health’s Sciences Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy
[4]Department of Paediatrics, University of Chieti, Chieti, Italy
关键词: Prader-Willi-like phenotype;    Hyperphagia;    Impaired glucose tolerance;    Hyperinsulinism;    Obesity;    Seizures;    Mental retardation;    Developmental delay;    Deletion 1p36;    Monosomy 1p36;   
Others  :  1122519
DOI  :  10.1186/1471-2350-15-16
 received in 2013-06-10, accepted in 2014-01-23, published in 15
【 摘 要 】


Deletion of the subtelomeric region of 1p36 is one of the most common subtelomeric deletion syndromes. In monosomy 1p36, the presence of obesity is poorly defined, and glucose metabolism deficiency is rarely reported. However, the presence of a typical Prader-Willi-like phenotype in patients with monosomy 1p36 is controversial.

Case presentation

In this report, we describe two female patients, one who is 6 years 2 months of age and another who is 10 years 1 month of age, both referred to our hospital for obesity and a Prader-Willi-like phenotype. These patients presented with severe obesity (body mass index [BMI] was 26.4 and 27.7, respectively), hyperphagia and developmental delay. Analysis of basal hormone levels showed normal thyroid function and adrenal function but considerable basal hyperinsulinism (the insulin levels were 54.5 and 49.2 μU/ml, respectively). In patient 1, glycaemia was 75 mg/dl (HOMA-R 10.09), and the HbA1c level was 6.1%; in patient 2, glycaemia was 122 mg/dl, and the HbA1c level was 6.6% (HOMA-R 14.82). An oral glucose tolerance test demonstrated impaired glucose tolerance and diabetes mellitus with marked insulin resistance (the peak insulin level for each patient was 197 and 279 μU/mL, respectively, while the 120’ insulin level of each patient was 167 and 234 μU/mL, respectively).


some patients with monosomy 1p36 may show Prader-Willi-like physical and physiologic characteristics such as obesity and hyperinsulinism with impaired glucose metabolism, which can cause type II diabetes mellitus. Further studies are necessary to evaluate these findings.

【 授权许可】

2014 Stagi et al.; licensee BioMed Central Ltd.

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