Endocrine Abstracts

We report an unusual case of struma ovarii diagnosed after thyroidectomy for Graves’ disease and papillary thyroid cancer.A 46-year-old woman presented with a 3-month history of weight loss, palpitations and irregular periods. Physical examination revealed tachycardia, fine tremor and a diffuse goitre. TSH <0.1 (0.5–4.2 mU/l), FreeT4 26 (10.8–19.3 pmol/l) confirmed thyrotoxicosis.Thyroid ultrasound scan showed a ...

Introduction: Successful treatment for childhood-onset Hodgkin lymphoma (HL) has highlighted long-term effects of therapy. We review endocrinopathy in HL survivors attending a hospital follow-up clinic and consider, together with published data, appropriate disease screening and monitoring.Method: Retrospective review of notes and investigations from survivors of childhood HL ≥5 years from diagnosis.Results: Forty-four subjec...

Perturbations in thyroid function are common in older individuals but their significance in the very old is not fully understood. We examined thyroid hormone status (serum TSH, FT4, FT3, rT3) at baseline in a cohort of 643 85-year-olds and followed their mortality and disability outcomes for 9 years. All cause mortality, cardiovascular mortality and disability according to categorical thyroid disease status and baseline thyroid hormone paramete...

3M syndrome is characterised by severe intra-uterine and post-natal growth failure. Patients have a characteristic triangular facial appearance and disproportionate short stature with tall vertebral bodies and over-tubulation of long bones. The condition bears some resemblance to the Russell Silver syndrome, but is transmitted as an autosomal recessive trait. It has been proposed that heterozygous carriers demonstrate mild phenotypic manifestations of the condition.<p clas...

Introduction: Primary hyperparathyroidism (PHPT) is a commonly encountered endocrine pathology. Asymptomatic renal stones have been reported in 7-22% of patients. NICE guideline (NG132) published in May 2019 on PHPT recommends renal US in all patients. The value of renal ultrasound for all patients with PHPT has been debated. This audit aims to compare local practice to NICE guideline (NG132) and to see if a tailored approach for renal ultrasound would be safe, practical and e...

Hubert Vaudry, France-. AbstractDr Hubert Vaudry is Director of Research at the Institut National de la Santé et de la Recherche Médicale (INSERM), the French National Institute for Health, and Director of the Laboratory of Cellular and Molecular Neuroendocrinology at the University of Rouen. He was born in February 1946 in Le Havre, Normandy, and obtained his PhD at the University of Rouen in 1974. He then ...

Context: Mutations of cytochrome P450 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH), a disease recently related to vitamin D catabolism impairment.Aim of the study: Report of clinical and biochemical features of a large family with a novel mutation of CYP24A1.Methods: We performed dosage of total calcium, ionized calcium, 24 h urinary calcium, PTH, 25-OH-Vitamin D (25-O...