Endocrine Abstracts

Introduction: Prader–Willi syndrome [PWS] is a complex genetic disorder with hypothalamic pituitary dysfunction that includes obesity, diabetes and behaviour changes. Obesity in PWS is due to decrease of oxytocin neurons and leptin resistance causing hyperphagia. Prader–Willi syndrome is associated with high incidence of altered glucose metabolism. The etiology for diabetes in PWS may be related to morbid obesity and resultant insulin resistance.<p class="abstext...

Background: Treatment of precocious puberty with GnRH analogues is well established. But there are concerns about weight gain in patients on this treatment. There have been conflicting reports about the effect of GnRH analogues on weight.Aims: To assess the change in BMI in children treated with GnRH analogues within a UK Endocrine Service and to analyse the patient/parent experience of the treatment.Methods: A retrospective study ...

Background: Infants born to mothers who are deficient in vitamin D are at risk of developing vitamin D deficiency and hypocalcaemia.We present a case report on infantile hypocalcemic seizures secondary to vitamin D deficiency followed by persistent hypomagnesemia.Case description: A 4-week-old term male baby born by uncomplicated pregnancy was brought due to acute onset seizures which terminated with IV lorazepam. He was...

Introduction: GH has been proven to improve lean body mass and muscle strength. We report three cases where growth hormone replacement had a significant effect on gross motor function.Case series: A 15 month old boy was born at 33 weeks of gestation. During infancy, he was noted to have global developmental delay secondary to cerebral atrophy and isolated growth hormone deficiency. He was not able to pull himself to standing position but after commencing...

Background: Diabetic ketoacidosis (DKA) in children and young adults carries significant morbidity and mortality relating to complications such as cerebral oedema. Acute kidney injury (AKI) is a rare but potentially fatal complication of DKA. We present three cases of DKA complicated by AKI.Case 1: A 9-year-old girl presented with severe DKA at diagnosis. She was treated with intravenous fluids and insulin as per protocol. She had oliguria and haematuria...

Introduction: Atopic dermatitis can cause significant exudative fluid loss from a large body surface area in an infant leading to severe hyponatraemia.Case report: A 5-month-old boy was referred to the paediatric team from dermatology with severe cradle cap, eczema and fever. He also had faltering growth (weight: 4.95 kg, well below 0.4th centile) and moderate developmental delay. On examination, he had severe infected eczema over a large area of the sca...

Introduction: Children and young people with type 1 diabetes are usually managed by multidisciplinary teams (MDT) based in secondary care. Many of them have co-morbidities, which may or may not be associated with diabetes. Presence of co-morbidity increases health care needs and costs. Such co-morbidities in adult patients with diabetes are primarily managed by the general practitioners (GP) (Struijs, Baan et al.; 2006). Our aim was to analyse the prevalence of co-morbi...

Aim: To evaluate the paediatric specialist diabetes nurse (PDSN) delivered 24 h emergency telephone contact service for families with children and young people with type 1 diabetes within Hull and East Yorkshire Hospitals NHS Trust.Methods: A prospective audit of telephone calls received by the 2 PDSNs over a 15-month period between 1 July 2005 and 30 September 2006 for out of hours advice. All the phone calls were logged into a database and details of t...

Introduction: The Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked condition characterised by reduced renal water clearance and hyponatraemia resulting from gain of function mutations in the type 2 Vasopressin (AVP) receptor (AVPR2). Female carriers were thought not to express a phenotype. We describe a kindred with NSIAD, highlighting molecular and physiological characteristics that extend understanding of this condition and of AVP production.<p c...

The incidence of children presenting with DKA at diagnosis has been on the rise worldwide1. 25.8% of newly diagnosed children had DKA at diagnosis according to the NPDA report (2020/21). 34% of newly diagnosed children in the Yorkshire and Humber(Y&H) region presented in DKA2. Delayed presentation due to lack of awareness is a likely cause for that.Aim: To review the presentations of DKA at diagnosis in the YH r...