Endocrine Abstracts

Introduction: The insulin-like growth factor 1 receptor (IGF1R) gene, located on chromosome 15q26.3, encodes the 1367 aa tyrosine kinase receptor IGF1R which is involved in many processes, including growth. Few heterozygous mutations of IGF1R leading to IGF-I resistance have been described in patients with intrauterine and postnatal growth retardation, microcephaly and variable learning difficulties. We report previously undescribed IGF1R nonsense variant in a child with norma...

Background: The glucagon tolerance test (GTT) is used to diagnose growth hormone deficiency (GHD) in younger children or in patients where the insulin tolerance test is contraindicated. We assessed GTTs carried out over five years in a tertiary paediatric centre to assess growth hormone (GH) and cortisol axes. The aim was to assess at which time points the GH peak was observed, and assess whether any predictive value is gained from demographics or IGF-1....

Background: Neanderthals split from an ancestral human population ~500,000 years ago and lived in Eurasia until 40,000 years ago. Early modern humans emerged in Africa ~350,000 years ago migrating into Eurasia 50,000 years ago. Interbreeding occurred between early modern humans and Neanderthals leading to the introduction of Neanderthal DNA into the early human population, a process termed introgression. In modern Eurasian populations around 2-4% of DNA is of Neanderthal origi...

We present the case of a girl with rapidly progressing central precocious puberty, CPP. The young girl presented with consonant rapidly progressive puberty and onset of menarche. She had onset of breast budding at 7 years 11months, menarche at 8 years 2 months, with significant growth spurt. Periods continued every 3 weeks. A Brain MRI demonstrated a dysplastic lesion of her tectal plate. She underwent treatment with Gonadotropin releasing hormone analogues to suppress puberty...

Abstract Withdrawn...