Endocrine Abstracts

Puberty is a fascinating transition period in the mammalian lifespan, but the biological control of pubertal timing remains poorly understood. Developmental abnormalities of the gonadotropin-releasing hormone (GnRH) neuronal network have been shown to be responsible for disorders of pubertal timing, in a spectrum of conditions ranging from idiopathic hypogonadotropic hypogonadism (IHH) to self-limited delayed puberty. We hypothesized that important regulators of pubertal timin...

Background & Objective: Pseudohypoparathyroidism (PHP), a heterogeneous condition, classically causes parathyroid hormone (PTH) resistance. PHP1a is caused by heterozygous inactivating mutations on the maternally derived GNAS allele. PHP1b results from methylation defects at the GNAS imprinted gene cluster, which are either sporadic, or familial, normally associated with maternally inherited intragenic STX16 deletions. We investigated the presentation, phenotype, ...

Context: Severe or ‘classical’ growth hormone insensitivity (GHI) is characterised by extreme short stature, dysmorphism and metabolic anomalies. It is caused by homozygous or compound heterozygous mutations of the Growth Hormone Receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of gene(s). The non-coding regions of the genome may harbour numerous disease-causing mutations that are not well recognised or understood.<p clas...

Background and Methods: PCOS is common and associated with significant comorbidity. Yet, its pathogenesis is complex and poorly understood. We have developed new methods for deep phenotyping discovery proteomic profiling of urine to identify disease mechanisms and novel non-invasive biomarkers for PCOS in adolescents. We undertook proteomic analysis (nano 2D-LC-QTOF MSe) on a subset of 15 samples from a longitudinal PCOS cohort of 40 participants. We compared the ur...

Background: MBDP describes inadequate mineralisation of bones in the preterm infant. Traditionally, neonatologists have used a raised ALP and low phosphate to diagnose MBDP, with phosphate supplements as first-line treatment. An alternative management approach, published by Chinoy et al (2019), recommended PTH and vitamin D in the routine work-up. Objectives: We undertook a review of data across two neonatal intensive care units:<p class="ab...

Background: Adrenal cortical carcinoma (ACC) in children is a rare and aggressive disease. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations at presentation, and post-operative decrease in cortisol can be challenging to manage. Focus on endocrine management has not been previously described.Case Series: 34 patients (age 2 wee...

Introduction: Monitoring glucocorticoid (GC) replacement in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) remains challenging. There are disease-specific patterns in the plasma and urinary steroid profiles in 21OHD, a key role being played by the 11-oxygenatedC19 androgens. Aim: To explore the urinary steroid profile in 21OHD in relation to treatment and plasma steroids. Methods: Partic...

Introduction: The destination of young people referred from the NHS Gender Identity Development Service (GIDS) to the two paediatric endocrine centres covering England and Wales has not been analysed previously.Methods: 1151 young people identifying as gender variant were referred from GIDS for an endocrine opinion: 827 patients to University College London Hospital (UCLH) from 2008; 324 to Leeds Children’s Hospital (LCH) from 2013. Outcomes were no...

Introduction: Childhood obesity remains a major health concern and there are a number of serious complications associated with it. These include type 2 diabetes mellitus (T2DM), obstructive sleep apnoea (OSA), idiopathic intracranial hypertension (IIH) and non-alcoholic fatty liver disease (NAFLD). Glucagon-like peptide 1 (GLP-1) therapy has shown promising results for weight loss in adults and has recently been approved for the use in the treatment of childhood obesity for ad...