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Endocrine Abstracts (2015) 39 Symp1.2 | DOI: 10.1530/endoabs.39.Symp1.2

BSPED2015 Main Symposia Industry sponsored Satellite Symposium (2 abstracts)

Novel insights into pituitary dysfunction - Congenital hypopituitarism: new genes, new phenotypes

Mehul Dattani

Genetics and Genomic Medicine Programme, UCL Institute of Child Health London, London, UK

Congenital hypopituitarism (CH) is a rare but life-threatening condition that is associated wth significant morbidity and mortality. It occurs in 1 in 4000 to 1 in 10000 live births, and may present variably. In the newborn period it is associated with conjugated hyperbilirubinaemia, micropenis with undescended testes in affected males, hypoglycaemia and possibly features of hypothyroidism including lethargy and feeding difficulties. Later on, it may present with early growth failure, or in milder cases even later. The condition includes GH, ACTH, TSH and gonadotrophin deficiencies; diabetes insipidus is usually rare unless midline abnormalities are present, as is the case with Septo-Optic Dysplasia (SOD). The diagnosis is based on a combination of auxology, biochemistry, and neuroimaging. Mutations in a number of genes have been identified in association with congenital hypopituitarism and SOD. These include a number of developmental genes such as HESX1, SOX2, SOX3, OTX2, GLI2, ARNT2, IGSF1, TCF7L1, BRAF, LHX3, LHX4, PROP1 and POU1F1. Mutations have also been identified in genes that are implicated in Kallmann syndrome, such as FGF8 and FGFR1. Phenotypes, inheritance and penetrance can be variable, and much remains to be learned about the molecular basis of these conditions. Management of congenital hypopituitarism includes hormone replacement including rhGH, hydrocortisone, thyroxine, sex steroid and DDAVP as necessary. Both CH and SOD can also be associated with autism, neurodevelopmental delay and obesity, the management of which is highly challenging. In this presentation, data will be presented that will compare the phenotypes of SOD with CPHD without midline defects, with relevant genotype-phenotype correlations.

Volume 39

43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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