Endocrine Abstracts

Background: Lowe Syndrome is an X-linked recessive genetic disorder caused by OCRL gene mutations, which impair intracellular trafficking processes. Signs are multisystemic, including congenital cataracts, intellectual disability and proximal renal tubulopathy. Short stature is a common association, often attributed to chronic kidney disease through childhood. However, recent evidence suggests that the hypothalamo-pituitary-somatotroph axis may play a role. <p class="abste...

Introduction: ACTH deficiency is life-threatening, but difficult to differentiate from ACTH suppression especially in children and young people (CYP) receiving perioperative corticosteroids for pituitary tumour surgery. In our experience, ACTH is the most, and GH the least robust anterior pituitary hormone, with LH/FSH and TSH intermediate in hierarchical loss.Aims: To assess potential misdiagnosis of ACTH suppression versus deficiency and time to adrena...

Introduction: Post-prandial hyerinsulinaemic hypoglycaemia (PPHH) or dumping is a recognized complication of various gastric surgeries. There are very few paediatric case reports to confirm PPHH post esophageal repair. We here report two cases who presented with dumping syndrome after a variable time period post esophageal atresia repair and response to medications.Case 1: A 6 month old female diagnosed with Wolf-Hirschhorn syndrome, born at 38+3 weeks b...

Introduction: Half of subjects following a low-calorie dietary program cannot tolerate its nutritional restrictions and abandon it. A realistic approach to overcome this obstacle is the addition of low glycaemic index (GI), low glycaemic load (GL) snacks in their nutrition. Stevia, a potent, low calorie natural sweetener exerts anti-hyperglycaemic and insulinotropic activities. Furthermore, Vitamin D deficiency may affect diabetes development in the long run.<p class="abst...

Introduction: Disseminated fungal disease is an opportunistic infection mostly seen in immunocompromised patients, however, fungal thyroiditis in this context is rare, with few previously reported cases (predominantly Aspergillus, only one case of paediatric candida thyroiditis). We present a case of Candida tropicalis induced thyroiditis, to highlight this rare (likely underreported) cause of thyroid disease.Case: A 9-y...

Introduction: Activating mutations of Glucokinase (GCK) gene are described as a rare genetic aetiology of Congenital Hyperinsulinism (CHI), which can cause variable disease severity. However, cardiac anomalies such as aortic valve disease have not been reported as a feature of this genetic form of CHI. We describe two patients diagnosed with GCK-CHI and aortic valve disease.Case 1: A twelve-month-old female presented at ...

Background: The focal type of Congenital Hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin over-secreting β-cells within a restricted area of the pancreas. Early identification and intervention of the focal lesion is critical in CHI management, preventing both acute and chronic complications.Objective: The purpose of this study is to review outcomes of treatment response in focal CHI.Design: Retr...

Objectives: Diazoxide is first line treatment for hypoglycaemia due to hyperinsulinaemic hypoglycaemia (HH). Although sporadic cases of pulmonary hypertension (PH) have been reported, no HH cohort has been systematically characterised to understand severity and risk factors for diazoxide-induced PH.Methods: To investigate the onset, progress and associated factors in PH, patients with HH who developed diazoxide-induced PH in 4 regional centres were retro...