Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2017-03-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://www.edmcasereports.com/articles/endocrinology-diabetes-and-metabolism-case-reports/10.1530/EDM-16-0125 |
| Summary: | Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a
unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated
with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks’ gestation with birth weight of 3.33 kg
(−0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high
concentration of glucose and glucagon infusion. The diagnosis of congenital hyperinsulinism (CHI) was biochemically
confirmed by inappropriately high plasma concentrations of insulin and C-peptide and low plasma free fatty acids and
β-hydroxyl butyrate concentrations during hypoglycaemia. Sequencing of ABCC8, KCNJ11 and HNF4A did not show any
pathogenic mutation. Microarray analysis revealed a novel duplication in the short arm of chromosome 10 at 10p13–14
region. This is the first reported case of CHI in association with PS and 10p duplication. We hypothesise that the HK1
located on the chromosome 10 encoding hexokinase-1 is possibly linked to the pathophysiology of CHI. |
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| ISSN: | 2052-0573 2052-0573 |