A Case of Neonatal Central Diabetes Insipidus in a Premature Infant - Challenges in Diagnosis and Management

Case Reports Journal21United State

High Fibroblast Growth Factor (FGF) 23: An Unusual Cause of Severe Osteoporosis in a Patient with Chronic Liver Disease

90178-17

A Case of Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) in a Girl with Newly Diagnosed Hashimoto Thyroiditis

90636-63

Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia

10.1530/EDM-16-0043ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS201

Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia

Hyperinsulinaemic hypoglycaemia (HH), which causes persistent neonatal hypoglycaemia, can result in neurological damage and it’s management is challenging. Diazoxide is the first-line treatment, albeit not all patients will fully respond to it, as episodes of hypoglycaemia may persist and it entails unpleasant adverse effects. Sirolimus, an mTOR inhibitor, has reportedly been successful in treating children with severe diffuse HH, thus obviating the need for pancreatectomy. We report a girl with HH, with a novel heterozygous ABCC8 gene missense mutation (c.4154A>T/ p.Lys1385Thr), who was initially responsive to diazoxide therapy. After 11 months of diazoxide treatment, she developed intermittent, unpredictable breakthrough episodes of hypoglycaemia, in addition to generalized hypertrichosis and weight gain from enforced feeding to avoid hypoglycaemia. Sirolimus, which was commenced at 15 months of age, gradually replaced diazoxide, with significant reduction and abolition of hypoglycaemia. The hypertrichosis resolved and there was less weight gain given the reduced need for enforced feeding. Sirolimus, which was administered over the next 15 months, was well tolerated with no significant side effects and was gradually weaned off. After stopping sirolimus, apart from hypoglycaemia developing during an episode of severe viral gastroenteritis, the capillary glucose concentrations were maintained >3.5 mmol/L, even after a 10 h fast. Sirolimus may have a role in the treatment of partially diazoxide-responsive forms of HH who experience breakthrough hypoglycaemia, but the long-term safety and efficacy of sirolimus are not established

A case of Cushing syndrome in a Wilms' tumour

91501-50

Metabolic Complications after Paediatric Liver Transplantation: A 10-year Longitudinal Study in a South-East Asian Population

91148-14

Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

Loss-of-function mutations in the p hosphate regulating gene with h omologies to e ndopeptidases on the X -chromosome ( PHEX ) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and biochemical findings. We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets. A sequencing assay targeting the PHEX gene was first performed on the mother’s DNA to screen for mutations in the 5′UTR, 22 coding exons, and the exon-intron junctions. Targeted mutation analysis and mRNA studies were subsequently performed on the boys’ DNA to investigate the pathogenicity of the identified mutation. Genetic screening of the PHEX gene revealed a novel mutation, c.1080-2A>C, at the splice acceptor site in intron 9. The detection of an aberrant mRNA transcript with skipped (loss of) exon 10 establishes its pathogenicity and confirms the diagnosis of XLHR in this infant. Genetic testing of the PHEX gene resulted in early diagnosis of XLHR, thus enabling initiation of therapy and prevention of progressive rachitic changes in the infant

Self and parent-proxy rated health-related quality of life (HRQoL) in youth with obesity: are parents good surrogates?

10.1007/s11136-020-02472-yQUALITY OF LIFE RESEARCH2982171-218

Prevalence and predictors of metabolically healthy obesity in severely obese Asian children.

10.1038/s41390-022-01941-zPediatr Re