Endocrine Abstracts

Introduction: There has been a joint transition clinic in our tertiary centre for over 10 years. We have recently undertaken a questionnaire based review of this service.Methodology: The questionnaire comprised two components: what the young adults understood about their condition and the medications they were currently taking using both a written response and a score of 0–10 for how confident they felt in this. They were also asked to complete a co...

Introduction: The 1 μg low dose short Synacthen tests (LDSST) and the glucagon stimulation tests (GST) have been suggested to be safer alternatives to the insulin induced hypoglycaemia stress test. The aim of this study was to compare the peak plasma cortisol concentration in response to a LDSST followed 60 min later by a GST in children undergoing investigation for short stature.Methods: We retrospectively studied 38 patients (19 female, 19 male) w...

Introduction: The clinical differentiation between androgen insensitivity syndrome (AIS) and 5 alpha reductase deficiency (5-ARD) can be difficult. Presenting features may be similar and initial investigations may still not be discriminatory.Methods: Case notes on a total of ten patients with the initial diagnosis of AIS or 5-ARD were retrospectively reviewed.Results: All ten children had a 46XY male karyotype. Four children were r...

Background: Dexamethasone (Dex) induced growth retardation in children is partly mediated by direct growth plate effects. In contrast, IGF-I induces bone growth and may ameliorate these effects.Aims: To determine the direct effects of Dex and IGF-I on bone length, cell proliferation and mineralisation in cultured fetal mouse metatarsals.Methods: 18-day-old fetal metatarsals were cultured in triplicate in serum-free medium for 12 days supplemented with either Dex 10<sup...

Background: Glucocorticoid (GC) induced growth retardation is partly due to effects on the growth plate but may vary depending on the pattern of GC exposure.Aims: To compare the effects of dexamethasone (Dex) and prednisolone (Pred) and timing of GC exposure on chondrocyte proliferation and terminal differentiation on the ATDC5 murine chondrocyte cell line.Methods: The cell line was fully characterized by assessing marker gene expr...

Background: GCs retard growth prenatally in many mammals. Little is known of the prenatal effects of GCs in mice though this species is optimal for genetic and transgenic studies. IGFBP-2 is the predominant prenatal IGF binding protein and it may influence IGF action.Aim: To determine the weights, crown rump lengths (CRL) and serum IGF-I, Insulin and IGFBP-2 levels on 1 day old mice exposed to GC prenatally.Methods: Pregnant mice w...

Introduction: The use of long-term oral corticosteroids in DMD leads to secondary adrenal insufficiency. The 2018 international care consensus recognizes this important issue and recommends emergency plans to be in place. Aim: This online UK-wide patient survey aims to determine the advice/education given for emergency stress dose plans and the impact of the COVID-19 pandemic in corticosteroid-treated young people with DMD. Methods...

Background: Type 1 pseudohypoaldosteronism (PHA) is characterised by resistance to aldosterone action, resulting in salt wasting, hyperkalaemia and metabolic acidosis in the neonatal period. Type 1 PHA can be classified as Renal PHA (autosomal dominant (AD)), and the more severe Multiple target organ defect / systemic PHA (autosomal recessive (AR)). The aim of this study was to ascertain the incidence of PHA, and characterise mode of presentation, management and clinical outco...