Endocrine Abstracts

Introduction: SACT are rare in childhood and present with variable signs depending on the type of hormone excess. We describe the unusual presentation of a teenager with SAT presenting with slow progressing puberty.Methods: A pre-menarchal 13.5 years old girl with high BMI (28 kg/m2) presented with slow progressing puberty. She started her puberty at least 3 years previously with breast changes, then progressed to develop pubic and axillary ha...

Background: Pathogenic IGFI gene mutations causing childhood growth failure are extremely rare. Only five autosomal recessive mutations, one IGFI copy number variant and two heterozygous frameshift mutations are reported. Heterozygous missense IGFI mutations haven’t previously been described.Objectives: To identify and functionally characterise a novel missense IGFI variant in a patient with postnatal growth failu...