Endocrine Abstracts

Background: Growth hormone insensitivity (GHI) is a continuum defined by normal/elevated growth hormone (GH), low IGF-I levels and growth restriction. Non-classical/mild-moderate GHI is poorly characterised and is frequently underdiagnosed. Heterozygous dominant negative (DN) gene variants located in the regions encoding the intracellular/transmembrane domains of the GH receptor cause a ‘non-classical’ GHI phenotype.Hypothesis/Objective: Detail...

Silver-Russell syndrome (SRS) is characterised by low birth weight, short stature, and feeding difficulties in childhood, with marked leanness also described. There is limited information on body composition in older people with SRS.Objective: To evaluate body composition in adults with SRS. Methods: Participants aged ≥18 years with molecularly-confirmed SRS attended a single study appointment. Body composition was evaluated ...

Background: Childhood obesity is associated with multitude of co-morbidities. Idiopathic intracranial hypertension (IIH) is one of the less common co-morbidities in children and young people. Severe migraine has been postulated as a further association. We report our experience of using topiramate for managing obesity associated IIH and severe persistent migraine.Cases: Case One: A 12 year old boy was referred with morbid obesity, systemic hypertension a...

Objective: Impaired linear growth is a common complication of end stage renal failure (ESRF), with recombinant human growth hormone (rhGH) being the suggested treatment until renal transplantation (RTx). Growth improvement post RTx has been reported, however data on the degree of catch up growth post RTx and final height (FH) is limited. We aimed to evaluate the effect of RTx on FH standard deviation score (SDS) and the possible contributing factors.Meth...

Background: Compound heterozygous POLE1 mutations have previously been described as a cause of IMAGe syndrome. The severity of the adrenal insufficiency (AI) at initial presentation has been a subject of ongoing debate. Case report: At 22 weeks gestation the proband’s mother was referred to paediatric endocrinology for low oestriol on antenatal quadruple testing. The pregnancy was complicated by severe growth restriction leading to emergency caesare...