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Endocrine Abstracts (2017) 51 P037 | DOI: 10.1530/endoabs.51.P037

BSPED2017 Poster Presentations Pituitary and growth (24 abstracts)

Congenital hypopituitarism and hyperinsulinaemic hypoglycaemia: a challenging association

Sangeetha Pradeep , Maria Guemes , Mehul Dattani & Pratik Shah


Great Ormond Street Hospital, London, UK.


Introduction: To date, few cases with both congenital hypopituitarism (CH) and hyperinsulinaemic hypoglycemia (HH) have been reported in the literature. We now report a cohort of 12 cases with CHI associated with HH.

Clinical Phenotype: An association between congenital hypopituitarism (CH) and hyperinsulinaemic hypoglycemia (HH) was present in 12 patients (M:F 9:3). Mean age at diagnosis of HH was 0.9 months, whereas mean age at diagnosis of CH was 2.0 years (data based on n=10). Seven out of 12 patients have developmental delay, one has epilepsy, and four children have normal development. Nine patients had a small anterior pituitary identified on MRI, two had a normal pituitary gland, and no comment was made on the pituitary gland in one patient. Three patients with a small anterior pituitary also had an ectopic posterior pituitary gland. Ten out of 12 patients were diazoxide-responsive, although 50% of patients came off treatment in the first year of life. Molecular analysis led to the identification of genetic changes in a number of patients (dominant maternal ABCC8 mutation (n=1), denovo ABCC8 mutation (n=1), paternal intronic change in ABCC8 (n=1), KvDMR1 hypomethylation (n=1), EIF2S3 (n=3, three males from a single pedigree). Although EIF2S3 mutations have been previously associated with microcephaly and intellectual disability, this is the first description of disordered pancreatic function and hypopituitarism associated with EIF2S3 mutations.

Conclusion: This study reports a significant cohort of children in whom HH is associated with CH. A transient form of HH was identified in the majority of cases, and this was diazoxide-responsive in majority of cases too. Molecular analysis identified mutations in 7 of 12 children; although apart from the pedigree with the EIF2S3 mutation, the cause of hypopituitarism remains yet to be elucidated.

Volume 51

45th Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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