Endocrine Abstracts

Background: Approximately 1/3 of children newly diagnosed with type 1 diabetes (T1D) present with diabetic ketoacidosis (DKA). Despite the progress made in managing T1D, DKA continues to pose a substantial risk for existing and new patients with T1D. The British Society for Paediatric Endocrinology and Diabetes (BSPED) published guidelines for the management of DKA in 2021 and this protocol was adopted by Bristol Royal Hospital for Children.<p class="abste...

A 10-year-old female was referred because of prolonged bleeding lasting for a week following a tooth extraction. She had menarche at the age of 9 years, and since then, she used to have regular heavy periods lasting for over two weeks every month. She had low haemoglobin, prolonged APTT and low von Willebrand antigen level. Therefore, she was diagnosed with von Willebrand disease. At the same time, she was found to have a high TSH and low free T4. She was referred to the paedi...

Background: Standard glucocorticoid therapy in CAH often fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes, particularly in adolescents. Efmody, a MRHC, has recently been licensed for CAH patients aged >12 years following a phase 3 study by Merke et al., 2021 demonstrating improved biochemical control in adults, steroid dose reduction over time, and patient-reported benefit.<stron...

A preterm baby was born at 23 weeks + 2 days gestation. She was managed on our tertiary care neonatal unit and remained ventilated for most of her stay. During her admission, she had recurrent episodes of clinically suspected NEC which were medically managed. Her feeds were discontinued on numerous occasions due to bilious aspirates, vomiting and abdominal distention. Given the patient’s clinical condition, a contrast study of the gastrointestinal tract was done using an enteral iodina...

Introduction: One tenth of children worldwide are obese and disturbance in pubertal progression is one of the unpleasant health consequences of adolescent obesity. Data on pubertal hormones in obese adolescents are scarce and contradictory.Methods: This study was a cross-sectional, case-control study conducted on 120 participants; 60 randomly chosen obese adolescent males and 60 age and sex matched controls. All participants had measurements of their wei...

Background: 17 α-hydroxylase enzyme deficiency is a rare condition and is responsible for < 1% of cases of congenital adrenal hyperplasia (CAH). Females present with delayed puberty due to reduced production of sex steroids and males can present with female external genitalia or with various degrees of genital ambiguity.Case presentation: A 4.5-year-old female – previously fit and well – presented to E...

Introduction: DSD includes variations in the development of chromosomal, gonadal, or anatomical sex and can be subdivided into (XY DSD, XX DSD, and sex chromosomal DSD). Most presentations occur in the neonatal period with atypical genitalia or discordant phenotype and antenatal genotype, but later presentations occur raising complex diagnostic and clinical management issues.Objective: To characterise the etiological, cl...