Endocrine Abstracts

Background: A robust and meaningful transition pathway helps to prepare young people (YP) for the move from children and YP’s services to the adult setting. This can prevent YP from being lost to follow-up and improve long-term health outcomes. Healthcare “transition” describes the process of preparing, planning and moving YP from paediatric to adult services. This should be a gradual process, to enable the YP, and those involved in their care, to feel adequatel...

Objectives: Osteogenesis Imperfecta (OI) is a genetic disorder characterised by bone fragility and predisposition to fracture. The increased risk of fracture and skeletal morbidity in this patient cohort is lifelong. Long-term follow-up is important in addressing health needs. The aim of this retrospective clinic review was to evaluate the success of transition in OI and to determine factors influencing long-term follow-up in adult services.Methods: Youn...

X-linked nephrogenic diabetes insipidus (NDI) is a rare hereditary condition characterised by renal resistance to arginine vasopressin (AVP). Diagnosis can pose clinical challenges, but molecular genetic analysis can offer a swift and conclusive diagnosis. Herein, we present the case of a 13-year-old boy born from a non-consanguineous marriage, underwent appendicitis surgery at our hospital. Post-procedure, on the first day, the child was found to have severe hypernatremia (18...

MCAD deficiency, the most prevalent disorder in fatty acid β-oxidation, typically presents with hypoketotic hypoglycemia, neuromuscular issues, and arrhythmias. This report details the case of a one-year and nine-month-old boy with normal development and no significant medical history, who experienced a generalized tonic-clonic seizure linked to hypoglycemia (random blood sugar 2.1 mmol/l). Further inquiry revealed the seizure occurred after prolonged fasting upon waking ...

A 14-year-old girl presented with 11 months’ history of secondary amenorrhoea and autonomic symptoms on a background of significant anxiety and lethargy. She had been taking fluoxetine 20 mg daily for 6 months to treat anxiety and low mood. Menarche occurred had aged 12 years and 5 months and her menstrual cycle had been regular prior to its cessation one year earlier. She had no significant past medical history. There was a family history of hypothyroidism. On examinatio...

An 8-year-old girl presented with a new diagnosis of diabetes mellitus in severe diabetic ketoacidosis (DKA) (pH 6.8, BE -31.5 mmol/l, glucose 25 mmol/l, ketones 4 mmol/l). She had abdominal pain, vomiting, and Kussmaul breathing on a background of osmotic symptoms for a few months. She was treated with fluid resuscitation, replacement fluids and intravenous insulin in the high dependency setting. Initial laboratory sodium levels were low, 122 mmol/l (corrected for glucose 17....

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. The two main histological types, diffuse and focal, are clinically identical but differ in underlying genetic mechanisms, histopathology, and management. Fluorine-18 L-3,4-dihydroxyphenylalanine positron emission tomography/computed tomography (18F-DOPA PET/CT) can help differentiate focal from diffuse CHI and consequently aid in patient management. At our institution, ...

Background: Congenital central hypoventilation syndrome [CCHS] is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction. Hyperinsulinaemic hypoglycaemia (HH) due to glucose dysregulation caused by anomalous insulin secretion has been reported as a feature of CCHS. However, HH and glycaemic outcomes in the context of CCHS have ...

Introduction: Concerns around puberty are a common cause of paediatric endocrinology referrals. This study reviews outcomes of children referred with possible signs of puberty and then provides longitudinal follow up to ascertain the final diagnosis (e.g. premature adrenarche, thelarche, congenital adrenal hyperplasia, or central precocious puberty (CPP))Aims and Objective: The aim was to document the number of children who had a variation of normal pube...