Endocrine Abstracts

Studies of TSHR−/− mice suggest that TSH inhibits bone turnover, but these mice have congenital hypothyroidism and the actions of TSH cannot be separated from effects of thyroid hormone deficiency. We characterised skeletal development in hyt/hyt mice, which have a point mutation in the Tshr gene, and Pax8−/− mice with thyroid gland agenesis. Hyt/hyt mice have a 100-fold increase in TSH but inactive TSHRs, whereas Pax8&...

Introduction: Sphingosine-1-phosphate lyase (SGPL1) catalyses the final step in sphingolipid metabolism, irreversibly degrading the lipid signalling molecule sphingosine-1-phosphate (S1P). The relative abundance of S1P compared to its precursors sphingosine and ceramide finely tunes signal transduction for a wide range of cellular pathways including proliferation, apoptosis, migration and calcium handling. Loss-of-function mutations in SGPL1 cause a spectrum of disorders, incl...

Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency with retention of normal mineralocorticoid production. FGD causing mutations in the MC2R accessory protein, MRAP, often occur at the canonical donor splice-site of intron 3, presumed to result in skipping of the first coding exon with unknown consequences at the protein level. DNA from three patients (0 - 6 months) with high ACTH and/or low cortisol levels underwent whole e...

The non-specific symptoms of Addison’s disease may be attributed to other conditions with consequent delay in diagnosis. We describe such a case of novel presentation. A 61 year old female presented with a one-day history of vomiting, abdominal pain and 15kg weight loss over 6 months. PMH: hypertension of 15 years duration, chronic kidney disease (CKD3) for 7 years and hysterectomy for endometrial carcinoma 8 years earlier. Examination: dehydrated, sinus tachycardia 110 b...

Spontaneous resolution of primary hyperparathyroidism following infarction for parathyroid adenomas is rare with infarction on treatment with cinacalcet being even rarer. A 53 year old female who presented to primary care with malaise was found to have biochemical evidence of primary hyperparathyroidism with adjusted calcium 3.31 mmol/l and parathyroid hormone 28.8 pmol/l. Previous medical history was unremarkable. Following discussion with endocrinology, treatment with cinaca...

Introduction: Diabetic ketoacidosis (DKA) remains a common presentation of type 1 diabetes (T1D) in children. During the COVID-19 pandemic, rates of presentation in DKA increased. Electrolyte abnormalities can occur during DKA treatment, but they are uncommon at presentation. We report a teenage girl with new-onset T1D presenting in severe DKA, complicated by profound hypokalaemia and hypernatremia. Case Report: A previously healthy 13-year-old girl was ...

Introduction: The management of childhood obesity is complex and requires intensive input from a multidisciplinary team. Pharmaceutical interventions may be required in addition to lifestyle modifications to treat morbid obesity. In a double blind randomised controlled trial, liraglutide, a glucagon-like peptide 1 (GLP-1) agonist along with dietary and lifestyle interventions showed beneficial BMI reduction in children and adolescents. We present a morbidly obese adolescent wi...

Introduction: Wolfram Syndrome (DIDMOAD) is an autosomal recessive disease caused by mutations in WFS1 gene, resulting in childhood onset diabetes mellitus and optic atrophy. There have been limited functional assays for WFS1 genetic variants. We aimed to investigate WFS1 protein expression in patients and relate this to their genotype and phenotype.Methods: Nine patients from a regional paediatric centre consented to skin biopsies. Six patients had comp...

A 26-year-old Caucasian female presented at 14 weeks gestation with a 6-week history of lethargy, nausea and vomiting during her first pregnancy. Her adjusted Calcium was 4.12 mmol/l and parathyroid hormone (PTH) 26 pmol/l, consistent with possible primary hyperparathyroidism. She was previously well apart from occasional migraines. There was no known history of familial hypercalcaemia or MEN. Other biochemistry results revealed hypokalaemia of 3.2 mmol/l, low vitamin D at 16 ...

We present the case history of a 62 year old male, who was recently diagnosed with sarcoidosis which was confirmed on biopsy of a calf nodule. CT scan revealed pulmonary involvement. Our patient had low vitamin D 12 nmol/l (nr 50–100) and initial adjusted calcium was 2.48 mmol/l (2.13–2.63). DEXA bone density scan revealed osteopenia. He was commenced on loading dose of colecalciferol 40,000 units weekly and received 3 doses. He presented 1 month later with polydipsi...