Endocrine Abstracts

Introduction: Patients presenting with isodicentric chromosome Y (idicY) formation in a mosaic karyotype can present with phenotypic features ranging from mixed gonadal dysgenesis, to females with stigmata of Turner’s syndrome. The presence of the SRY gene increases the risk of germ-cell tumours.Case report: A 12-year-old prepubertal girl was referred for evaluation of extreme short stature (height 122 cm; −4.58 SDS; weight 26.7 kg; a...

Background: Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) is a well-recognized complication of intracranial tumours (ICT). Fluid restriction as treatment for SIADH is challenging in infants since it is coupled with calorie restriction. Moreover, it may conflict with chemotherapy-associated hyperhydration protocols. Existing evidence on the use of the type-2 vasopressin receptor antagonist (Tolvaptan) for refractory SIADH in infants and young children is limi...

Introduction: Ovotesticular disorders of sexual development (DSD) are a rare form of DSD with co-existence of both ovarian and testicular tissue in one or both gonads.Case report: A term infant (weight+1.38 SDS) presented at birth with severe penoscrotal hypospadias, a small phallus and a right hemiscrotum with descended gonad (external masculinization score 1.5). Pelvic ultrasound revealed no mullerian structures, a small right gonad with probable epidi...

Sulphonylurea is an oral hypoglycaemic agent which stimulates the release of insulin from the pancreas and may induce raised plasma insulin and c-peptide levels. Sulphonylurea overdose is associated with profound refractory hypoglycaemia and can cause neurological deficit and acute renal failure. We report the case of a 15 year old non-diabetic girl who presented to our emergency department with sudden onset generalised tonic clinic (GTC) seizures secondary to hypoglycaemia of...

Background: Over-dosing and under-dosing of vitamin D in children and young people appears to be common, based on our audit of current practice. The contribution of ethnicity, skin colour, and vitamin D binding protein (VDBP) genotype has not been fully explored during vitamin D treatment.Objective: To investigate how ethnicity/skin colour and genetic variation affect the response to 150 000 units of vitamin D administered to young adults of white Caucas...

Background: The role of bisphosphonates in improving bone mass in patients with osteogenesis impefercta (OI) is well established. However, the impact of bisphosphonate therapy on body composition in relation to increasing bone mass remains relatively unexplored.Methods: Change in DXA-derived subtotal body (TBLH) and lumbar spine (LS: L1–L4) bone mineral content (BMC (g)), bone area (BA (cm2)), areal bone mineral density (aBMD (g/cm2<...

Introduction: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive condition caused by inactivating mutations in the GALNT3 gene, characterised by elevated serum phosphate and 1,25(OH)2 vitamin D, increased urinary tubular reabsorption of phosphate and hyperostosis of long bones.Case report: A 15-year-old boy (weight+1.05 S.D.; height −0.1 S.D.) with consanguineous parents of...

Introduction: Xanthogranulomatous hypophysitis (XGH) is a very rare form of pituitary hypophysitis that may present both clinically and radiologically as a tumour. Our case series compares paediatric and adult presentations of XGH.Case series: Patient 1: A 15-year-old female presented with refractory headache, lethargy, short stature, delayed growth (weight (−3.36) SDS, height (−1.73) SDS, BMI 14 kg/m2), and pubertal arres...

Background: The optimal management of paediatric craniopharyngiomas has been debated for years. Radical surgery aimed at complete resection (CR) was the approach for several decades, with higher reported rates of tumour control compared with incomplete resection (IR). The shift towards conservative surgery with adjuvant radiotherapy (DXT), aimed at reducing post-operative morbidities, especially hypothalamic and visual, has not been systematically studied.<p class="abstext...