ESPE Abstracts

Background: Paragnagliomas and pheochromocytomas are rare neuroendocrine tumors that originate from the paraganglionic cells of the autonomic nervous systems. These tumors may be extra or intra-adrenal in site. The use of antihypertensive medications is usually challenging in these patients. Long acting alpha and beta blockade can be quite useful preoperatively but challenging postoperatively. We present a case of familial paraganglioma that was successfully t...

Background: Neonatal hyperthyrotropinaemia (HT) is defined by elevated thyroid stimulating hormone (TSH) and normal free-thyroxine (FT4) level. Persistent HT in the neonatal period is often a diagnostic dilemma for clinicians to either treat to prevent subclinical hypothyroidism or to wait and monitor thyroid function tests (TFTs).Methods: As part of an audit, 1,449 term infants who had TFTs undertaken as part of a prolo...

Background: Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder, due to mutations in the leukemia inhibitory factor receptor (LIFR) gene. It is characterized by bowed-long bones, joint restrictions, dysautonomia, respiratory and feeding difficulties leading to death during infancy. In SWS survivors beyond 2 years of age, orthopedic problems are the main concern e.g. spinal deformations, osteoporosis and recurrent spontaneous fra...

Background: It is widely assumed that short stature can result in psychological, social, and physical problems. The validity and efficacy of GH in management of short stature is still debated.Aims: This study aimed to i) estimate the prevalence of short stature in preschool children (4–6 years), and determine the final diagnosis of abnormality based on different investigations, and ii) assess the impact of intervention for short stature among presch...

A 7 year old girl presented with breast development, mood changes and rapid growth spurt from 6.5 years. Clinically she was tall for her family and had Tanner stage 2 breast development and pubic hair. Bone age was 3 years advanced and pelvic ultrasound demonstrated globular anteverted uterus with endometrial lining and enlargement of the ovaries with follicles. LHRH test confirmed central precocious puberty with peak LH 44mIU/ml and FSH 19mIU/ml, with baseline estradiol of 92...

Introduction: DEND syndrome is severe form of neonatal diabetes mellitus characterized by triad of developmental delay, epilepsy and neonatal diabetes. It is caused by mutations in the K-ATP channel encoded by KCNJ11 or SUR1 sulphonyl urea receptor 1 encoded by ABCC8 gene. Its Incidence is <1/1000,000 and until now very few cases have been reported worldwide. There is intermediate DEND syndrome (iDEND), this is less severe condition in which there is neonat...

Introduction: CAH (congenital adrenal hyperplasia) is the most common cause of ambiguous genitalia among girls. 21 Hydroxylase deficiency is the most common type of CAH. If the CAH girls have early intervention and they have started early treatment then they will achieve normal puberty. IF CAH girls have started treatment later in the life then they will present either with precocious puberty or delayed puberty.Methodology:</stro...

Background: There is a need to increase digital health literacy in paediatric endocrinology due to the rapid emergence of digital technologies. Massive open online courses (MOOC) provide an opportunity to rapidly increase digital health capabilities at scale, as previously demonstrated in diabetes.1 To our knowledge, there are no comparable examples in the field of growth hormone deficiency.Aim: This study evaluates the ...

Background: A substantially reduced fluid replacement regimen was introduced in the ‘New’ British Society of Paediatric Endocrinology Diabetes (2015) compared to ‘Old’(2009) guideline for DKA management. However, data on varying fluid replacement regimens is limited and we explored this by comparing outcomes of the 2 guidelines on the resolution of DKA.Methods: In a retrospective audit of consecutively admitted patients (age <18 y...

Aim: To delineate the diagnosis in a case of antibody negative infantile onset diabetes with deranged liver function.Case Report: A female child, first born of consanguineous couple presented with Diabeteic Keto Acidosis and acute liver failure at 9 months of age. She has been treated as a case of Type I diabetes and was discharged on insulin. Child was further evaluated at our center at 11 months of age. On examination, she had a normal anthropometry an...