Endocrine Abstracts

Children and young people (CYP) at clinical onset of Type 1 diabetes (T1D) usually present with the classical symptoms of polyuria, polydipsia and weight loss with evidence of hyperglycaemia. A proportion with new onset T1D progress to metabolic decompensation and present with diabetic ketoacidosis (DKA), characterised by hyperglycemia and acidosis. DKA is a major medical emergency which untreated results in coma and death. The proportion of those with DKA at diabetes onset va...

Introduction: The importance of vitamin D beyond bone health is increasingly recognised. As a result Ireland has recently introduced a policy of vitamin D supplementation for all infants. A vitamin D level of 50 nmol/l for children/adolescents has been recommended as sufficient (1). We sought to establish the vitamin D status in children and adolescents attending a Paediatric Endocrinology Department and explore the relationship between vitamin D status and age, sex, body mass...

Background: In the human communication process listening is often reduced to a passive, innate activity and often considered as ’just listening’ (Wolvin 2010). Kilkelly & Donnelly (2011) advocates the promotion of a listening culture whereby children are able to voice and have their views listened to, not only to satisfy legal requirements. Much of paediatric services today are provided in the out-patient setting.Objective: The study aimed ...

Background: Prader-Willi syndrome (PWS) is a rare complex genetic disease. Nutritional needs vary depending on life stage, ranging from growth faltering in infancy to obesity from late childhood. Dietetic care is a main pillar of the multidisciplinary team (MDT) approach for PWS management. National Children Hospital (NCH) is the main national centre for PWS in Ireland, with 47 children attending. We sought to explore growth and nutritional status in children with PWS.<p c...

Introduction: In children with PWS, dysfunction of HPA axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Methods: 18 (4M/14F) children with PWS, with a median age of 2.51 years (0.6,9.9), underwent insulin tolerance test (11/18, median age 3.8 years (2.1,9.9)) or glucagon stimulation test (7/18, median age 1.8 years (0.6,2.4)) as part of their assessment before commencin...

Aims: The incidence of childhood/adolescent gender identity disorder (GID) is unknown. GID is an important condition where gender identity differs from biological sex. It is associated with significant distress, particularly with puberty, with much controversy internationally over the optimal timing of hormonal treatment. We examine the incidence and clinical presentation in UK/Irish children and adolescents.Methods: Study population: UK/Irish children/a...

Introduction: 13.1-year-old boy referred for growth hormone (GH) treatment with extreme short stature.Background: Born premature at 28 weeks gestation, fraternal twin, birth weight: 1.06 kg (−0.58 SDS). Neonatal course complicated by respiratory distress syndrome, grade 2 Intraventricular haemorrhage, grade 2 Retinopathy and failure to thrive. Although not born small for gestational age, he was small at term (1.67 kg (−4.18 SDS)).<p class...

Introduction: Biallelic mutations in the TSHB gene are a recognized cause of isolated congenital central hypothyroidism (CH), with autosomal recessive inheritance. In countries where neonatal CH screening relies on detection of an elevated TSH, such cases are missed, with the potential for delayed diagnosis and subsequent developmental impairment.Case: A female infant presented aged 8 weeks with prolonged jaundice, poor weight gain, constipation...

Aims: Childhood obesity is reaching epidemic proportions. Obesity may be primary (obesogenic environment), secondary (hormonal imbalance, drugs), monogenic (POMC) or be part of a complex phenotype-genetic obesity syndromes. It is important to distinguish between classifications. Our aim was to review our cohort of ‘obese’ patients with this in mind.Methods: Patients referred to our Paediatric Endocrinology Service specifically for management of...

Introduction: We describe a case of 17- beta hydroxysteroid dehyrogenase Type III (17-βHSD3) deficiency in a girl from the travelling community. This case demonstrates how the clinical picture may not correlate with the biochemical results.Case: A 4.7 year old girl presented for elective hernia repair. Intraoperatively, what was felt to be a testis was palpated. Investigations revealed a 46, XY karyotype. Pelvic ultrasound demonstrated absence of mu...