hrp0097rfc10.1 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023
Purushothaman Preetha
, Ramakrishnan Anand
, Gevers Evelien
Introduction: Heterozygous inactivating mutations in the maternal allele of the GNAS gene typically result in pseudohypoparathyroidism (PHP), characterised by developmental delay, short stature, obesity, hormone resistance and bone abnormalities. GNAS variants were recently described in 1% of patients in the UK Genetics of Obesity cohort, resulting in reduced MC4R signalling. Here, we report another novel GNAS variant in a family wit...