Endocrine Abstracts

Pituitary stalk interruption syndrome presents with a combination of a thin or disrupted pituitary stalk, underdeveloped or absent anterior pituitary, and a missing or ectopic posterior pituitary (EPP) as observed on magnetic resonance imaging (MRI). This condition, a congenital pituitary anomaly, lacks a precise prevalence estimate. In certain instances, the anomaly manifests solely as EPP or pituitary stalk interruption. We report a 5-day-old newborn was admitted due to poor...

Background: A recent study suggests that growth continues into the 20s in young men with Duchenne Muscular Dystrophy (DMD) following discontinuation of testosterone. There remains limited information on height and pubertal development in DMD following discontinuation of testosterone.Aims: The aim of this retrospective study is to evaluate puberty and growth following discontinuation of testosteronein DMD.Methods: A single observer ...

Introduction: Ectopic posterior pituitary (EPP) is a neuroimaging diagnosis frequently identified together with other hypothalamo-pituitary (H-P) abnormalities [hypoplastic anterior pituitary and thin interrupted stalk -Pituitary Stalk Interruption Syndrome (PSIS)] and associated with variable endocrine phenotypes evolving over time. We aim to describe the spectrum of hormonal deficiencies and neuroimaging abnormalities in a large cohort of children with EPP.<p class="abst...

Introduction: Growth hormone stimulation test (GST) is pivotal in diagnosing Growth Hormone Deficiency (GHD). Two abnormal GSTs are usually required to diagnose GHD (NICE and BSPED guidelines). Our centre moved from Insulin Tolerance Test (ITT) as a first-line GST to Arginine stimulation test (AGT) considering the significant risks associated with ITT and the need for close medical supervision for a longer period.Aim: To assess the specificity of AGT com...

Introduction: Delayed detection of short stature can lead to missed opportunities to optimise adult height and failure to diagnose important underlying pathologies. We speculated that children from more deprived communities may be less likely to be diagnosed with growth hormone (GH) deficiency, and that growth outcomes may be poorer in children treated with GH from deprived communities, in light of outcome data from other chronic childhood conditions. We compared the demograph...

Introduction: Polyuria polydipsia is a common paediatric presentation. The water deprivation test (WDT) is the gold standard to differentiate arginine vasopressin (AVP) deficiency (central diabetes insipidus, CDI), from habitual drinking. However, it burdens patients, families, and clinical staff significantly. Copeptin, which is co-secreted in equimolar amounts with AVP, can be easily measured by a simple blood test. There have been advances in using copeptin in diagnosing AV...

Background: Insulin-like growth factor-1 (IGF-1) acts via the type 1 IGF receptor (IGF1R), located on chromosome 15q26.3, and plays a crucial role in normal intrauterine and postnatal growth. Heterozygous 15q26.3 deletions can cause intrauterine and postnatal growth retardation, microcephaly, and developmental delay. Very few cases have been reported in the literature with a variable response to recombinant human growth hormone (rhGH) treatment. We report the effect of rhGH tr...

Background: The insulin tolerance test (ITT) is regarded as the gold standard in growth hormone stimulation testing. However, it is known that children and adolescents in puberty often exhibit physiological insulin resistance, and therefore theoretically require more insulin to induce the level of hypoglycaemia required in the ITT. Based on this, in 2021 we changed from using 0.10units/kg to 0.15units/kg insulin.Aim: To evaluate how a dose of 0.10units/k...