Endocrine Abstracts

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...

Introduction: Stuve–Wiedemann Syndrome (SWS) is a rare genetic condition with autosomal recessive inheritance characterized by the association of typical facial appearances, skeletal manifestations including bowed legs and dysautonomia. Only two patients with long survival have been reported in 2001. We report three children whose periodic clinical evolution could be observed in our hospital until the age of 9 years. We report a case of SWS with associate...

Background: Coronavirus 2019 (Covid-19), an infectious disease caused by SARS-CoV-2 virus has been linked to autoimmunity. Graves’ disease (GD) is a common subtype of paediatric hyperthyroidism and an autoimmune condition, where antibodies stimulate the thyroid-stimulating hormone receptor on the thyroid gland to produce excess thyroid hormone. Although, paediatric GD is rare, incidence have risen before the pandemic, and this rise has accelerated since the Covid-19 pande...

Introduction: Noonan syndrome (NS) (OMIM 163950) is an autosomal dominant clinically heterogeneous disorder characterised by multisystem involvement. Mutations in genes in the RAS/MAP signaling pathways are known to be responsible for ~70% of cases of NS. We report an infant with NS with early onset fragility fractures.Case report: A 15-month-old male infant with a history of atopic eczema, sparse hair on the scalp, slow motor development, feeding diffic...

Introduction: Congenital hyperinsulinism (CHI) is a rare condition of dysregulated insulin secretion causing hypoglycaemia. Oral Diazoxide is used as first line therapy for CHI. In those who are Diazoxide unresponsive, subcutaneous Octreotide is used as second line treatment. Octreotide has recognised side effects of biliary stasis. Additionally, we report hepatitis as a complication of Octreotide therapy in a child with CHI.Case report: A neonate with C...

Introduction: Congenital hyperinsulinism (CHI) is characterised by abnormally regulated and excessive insulin secretion by pancreatic β cells. First line management includes an oral suspension of Diazoxide but a standardised formulation is not universally employed. Anecdotal evidence suggests that different formulations can alter the management of glucose levels. Lack of glucose control can lead to permanent brain damage and adversely affect neuro development.<p class...

Introductions: Gender Identity Disorder (GID) occurs when a person’s gender identity differs from their biological sex, causing distress (gender dysphoria). GID presenting in childhood can dissipate at puberty. If it persists, they may progress to physical interventions. This involves the use of a GnRH analogue (GnRHa) for one year followed by cross sex hormones.Methods: As part of the clinical assessments, adolescents have body composition measurem...

Introduction: Neuroglycopaenia is recognised with abnormal neurology and development (Ab Dev) in 26–44% of children with persistent congenital hyperinsulinism (P-CHI). The prevalence of Ab Dev in spontaneously resolving CHI (R-CHI) is not known. We aimed to investigate Ab Dev in R-CHI and P-CHI children in a contemporary cohort.Methods: All children (n=67) were assessed for Ab Dev in the domains of speech, language, motor and vision, and cate...

Introduction: Pancreatectomy may be necessary to treat hypoglycaemia due to congenital hyperinsulinism (CHI) following failure of medical management. Post-operative complications including infection and persistent hypoglycaemia have been reported after pancreatectomy, but factors predictive of these have not been recognised.Aims: To investigate if early factors or the time to surgery predict risk of CHI surgical complications and hypoglycaemia in the 6 m...