Endocrine Abstracts

Background: Estimates for the prevalence of SHOX mutation in children with short stature vary from 2 to 15%. Unless specific clinical and radiological signs are sought these patients can be misdiagnosed as idiopathic short stature. An evidence based clinical scoring system has been published to identify these patients; more recently characteristic radiological signs have also been identified in bone age X-rays. To our knowledge there has not been a survey in the UK ev...

A 9-year-old boy presented to his local hospital having had a respiratory arrest at home. He had a background of a chromosomal microdeletion, and there had been several days of cough and coryza. CPR was underway and upon arrival in A&E he was resuscitated and retrieved to PICU. The working diagnosis was lower respiratory tract infection.On day 4 of his PICU stay, with progressive signs on his chest X-ray, an ultrasound scan was performed. Th...

A 57-year-old female who was previously healthy was admitted to hospital with a 2-week history of abdominal pain. On admission, she was tachycardic, tachypnoeic, hypotensive, and had abdominal tenderness. Her initial investigations revealed a neutrophilia with her biochemistry showing hyponatraemia (sodium of 124 mmol/l (135–145)) and normokalaemia (potassium of 4.7 mmol/l (3.5–5.5)). She had an urgent abdominal CT scan which showed evidence of a tubo-ovarian abscess...

Background: Errors made with critical medicines such as desmopressin and hydrocortisone used in the treatment of endocrine conditions in hospitalised patients can undermine patient safety but are largely preventable.Methods: Retrospective audit of adult patients admitted at the University Hospitals of Leicester NHS Trust between January 2013 and June 2014, prescribed desmopressin for cranial diabetes insipidus (CDI) or other medical conditions using elec...

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare autosomal dominant condition characterized by primary hyperparathyroidism (<90%) as a result of parathyroid adenoma or carcinoma (10–15%), ossifying fibromas of mandible and maxilla (30–40%), renal lesions (20%) most commonly cysts and benign and malignant uterine tumours and caused by germline CDC73 pathogenic gene mutations. Currently only 200 cases reported in medical literature. His management has pro...

Introduction: Disorders of sex development (DSD) may present in the newborn as ambiguous genitalia. Gender determination and diagnosis must occur as quickly as possible to minimise parental distress. Aim: to evaluate the initial care of babies born with DSD, and identify areas for improvement.Methods: Detailed assessment of 14 neonatal presentations at a tertiary centre between 2012 and 2014 was undertaken. Based on local trust guidelines, several parame...

Introduction: Chromosome 18 rearrangements are postulated to be associated with short stature, of uncertain pathophysiology.Methods: Retrospective case review (short stature with chromosome 18 rearrangement), investigation for GH deficiency (peak GH <7 μg/l on glucagon or ITT, unless otherwise indicated) and determining response to GH treatment.Results: In 13 year six such cases were referred from the geneticists, mean ref...

Aim: The insulin tolerance test (ITT) is considered the gold standard test in assessing the integrity of the hypothalamic–pituitary–adrenal (HPA) axis. The aim of this study is to evaluate if the 0900 h cortisol levels can be predictive of the patient’s response to hypoglycaemia, minimizing the use of the ITT as it is labour, intensive and unpleasant for the patient.Methods: This is a retrospective study of 110 ITTs performed at the Endocr...

Case history: A 22-year-old lady was referred to the thyroid eye clinic with bilateral proptosis following a routine visit to the opticians. She had a 2-year history of thyrotoxic symptoms, which had been getting worse over the past 4 months.She had signs of severe thyrotoxicosis and was clinically in atrial fibrillation (AF) with a central heart rate of 195 beats/min. Neck palpation revealed a moderate-sized smooth and symmetrical goitre with no bruits ...

Hypoparathyroidism is an uncommon condition characterized by reduced parathyroid hormone production resulting in hypocalcaemia with its clinical manifestations. A minority of cases are familial and exist as either isolated disease or as part of well described, multisystem syndromes. Mutation in the Autoimmune regulator gene (AIRE) results in Autoimmune Polyglandular Syndrome type 1 featuring hypoparathyroidism as a part of the syndrome. This case reported herein describes a mu...