Endocrine Abstracts

Background: Dominant inactivating mutations in the HNF4A gene have been associated with diazoxide-responsive hyperinsulinism (HI) during the neonatal period. However, there is limited literature reporting exceptional diazoxide sensitivity in neonates with HI due to novel HNF4A mutations. Objectives: To report on five neonates with HI due to HNF4A gene mutations who developed diazoxide-induced hyperglycemia and to explore phenotype-genotype correlatio...

Introduction: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by gain-of-function mutations in the aromatase gene (CYP19A1). It is characterised by pre or peripubertal gynaecomastia due to increased estrogen production from circulating androgens. Other features include advanced bone age, signs of testosterone deficiency such as small testis, high pitched voice and sparse facial hair in males, with macromastia and early puberty in females....

Introduction: Precocious puberty (PP) in boys merits a thorough clinical review as an organic cause is more likely. This case reports an unusual cause of PP.Case Report: A 5-year-old boy with a background of prematurity presented with PP. There was no family history of early puberty. Central PP was confirmed by a luteinising hormone-releasing hormone test (peak LH 5.8iu/l and FSH 3.0iu/l) and further investigations were performed (table1). He was managed...

Background: Turner Syndrome (TS) is a complete or partial loss of the second X chromosome affecting approximately 1:2000 females. Cardiovascular complications in TS include increased risk of congenital cardiac malformations, hypertension, and aortic dissection. The Clinical Practical Guidelines for the Care of Girls and Women with Turner Syndrome (published 2024) guidance suggests using aortic size index (ASI, aortic diameter divided by body surface area) thresholds. The ASI i...

Background: Recent studies have linked both PEG -asparaginase and 6 mercaptopurine [6MP] with hypoglycemia, However, the risk of hypoglycemia associated with ALL therapy is not well understood, despite its potential to cause adverse events in children. We report three cases in Wales.Case 1: An 18-month-old female with pre-B ALL presented with hypoglycemia during the induction phase of chemotherapy [PEG-asparaginase and high-dose dexamethasone] Hypoglycem...

Introduction: Genomic testing is increasingly embedded within mainstream clinical paediatric endocrinology care, facilitated by initiatives such as The National Genomic Test Directory which outline genomic tests currently commissioned by NHS England. Paediatric endocrinologists therefore require a knowledge of which (if any) genomic tests would facilitate the management of a young person presenting with an endocrine disorder; when and how to order them; and what to do with the...

Prevention and early treatment of hypoglycaemia in young patients with congenital hyperinsulinism (HI) is essential for reducing the risk of neurological and fatal consequences as well as optimising treatment. Continuous glucose monitoring (CGM) provides more comprehensive glucose measuring and the ability to alert when hypoglycaemia occurs. Some studies suggest that CGM can be a helpful tool in the management of HI alongside capillary blood glucose (CBG). FreeStyle Libre 3 (F...

Background: CHI is a well-recognized cause of hypoglycemia in infancy and is often associated with syndromes like BWS. While hypoglycemia resolves spontaneously in nearly half of BWS cases, others experience persistent, severe hypoglycemia due to CHI, requiring medical or surgical intervention. This study outlines treatment outcomes for CHI in BWS patients at our CHI Highly Specialized Centre.Methods: We conducted a retrospective analysis of 23 patients ...

Background: Lanreotide, a prolonged-release somatostatin analogue, has been used off-label for nearly a decade to treat congenital hyperinsulinism (CHI) cases resistant to diazoxide. Lanreotide’s side-effects include diarrhea, topical allergic reactions, hepatitis, gallstones, growth suppression, hypothyroidism, and gastrointestinal dysmotility. However, there are limited case reports documenting its safety in infants with CHI.Objective: To evaluate...