Endocrine Abstracts

Background: Relapse rates in young people with Graves’ disease (GD) are around 75% after 2 years of antithyroid drugs (ATD). However, there is little mechanistic insight into the pathophysiology of relapse and a lack of robust predictive biomarkers. B cell subsets and related cytokines may reflect humoral immune activity, for which T cells have an important supporting role.Aims: The purpose of this study was to evaluate T and B cell subpopulations, ...

Congenital hypogonadotropic hypogonadism (CHH) is a pathological condition characterised by lack of pubertal onset and must be differentiated from self-limited delayed puberty (SLDP). There is a significant overlap between these two conditions both in clinical and biochemical features, with current diagnostic approaches lacking sensitivity. Thus, paediatric endocrine clinicians are faced with difficulty in ascertaining the correct diagnosis in adolescence. The presence of cert...

Hypogonadotropic hypogonadism (HH) is a rare reproductive disorder that results in a lack of normal pubertal development and reduced potential for fertility in adult life. The condition is characterised by low circulating sex steroid concentrations resulting from a deficiency of pituitary gonadotropin production. HH may be congenital or acquired, most commonly due to tumour or treatment for malignant disease. When associated with anosmia it is termed Kallmann syndrome. HH is a...

Background: Previous studies use small for gestational age (SGA) as a surrogate marker for fetal growth restriction (FGR). SGA individuals, particularly those who show catch-up growth have greater cardiometabolic (CM) risk than those born appropriate for gestational age. However, not all FGR fetuses are born SGA. Therefore, we studied neonates born following pregnancies at increased risk of FGR, irrespective of birthweight.Aim: To define associations bet...

Background: Primary adrenal insufficiency (PAI) can be associated with significant morbidity in children of all ages, the most common cause being Congenital Adrenal Hyperplasia (CAH). Several other rare inherited causes of PAI have been identified over the years which lack diagnostic phenotypic or biochemical signs, leaving genetic testing as the only approach to make a definitive diagnosis. Our cohort involves >440 patients who presented with features of PAI – hypogl...

Aims: To examine, in children with Osteogenesis Imperfecta (OI): the prevalence of overweight and obesity, longitudinal trends in body mass index (BMI) z-scores and total body fat percentage (TBF) assessed on dual-energy X-ray absorptiometry (DXA) scans, correlation between BMI and TBF and fractures and BMI z-score.Methods: Retrospective cross-sectional and longitudinal analysis of children with OI, with minimum 5 years data on DXA scans, at a single nat...

Background: Cortisol is inactivated to cortisone in the salivary gland by 11β-HSD type 2. Concentrations of cortisone and cortisone in saliva correlate strongly with serum cortisol concentrations (1). Only free, biologically active hormone is measured in saliva, testing is non-invasive and can be performed at home/school, reducing cost and inconvenience to families and NHS resources. We previously reported pilot data from healthy children and young people (CYP) (1). Here we de...

Sphingosine-1-phosphate lyase 1 insufficiency syndrome (SPLIS) is a multisystemic syndrome in which primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome predominate, secondary to loss-of-function mutations in SGPL1 (sphingosine-1-phosphate lyase). SGPL1 carries out the irreversible breakdown of sphingosine-1-phosphate, a bioactive sphingolipid intermediate, with implicated roles in various cellular processes. Wider endocrinopathy including gonadal insuf...

Background and objective: Neonatal hypoglycemia is common and frequently self-resolving, although rare due to congenital hyperinsulinism are associated with high risk of brain injury. The time period for neonatal hypoglycemia has been described in several studies. It is unknown if low hypoglycemia thresholds (<2.0 mmol/l) lead to missed cases of persistent hypoglycaemia. We aimed to ascertain if lower hypoglycemia threshold risked missing persistent forms of hypoglycemia i...