Endocrine Abstracts

Case history: A 2 year old Pakistani boy born of consanguineous parents was referred for a dermatological opinion as he had total alopecia. He was born with a full crop of hair, which was shaved at 7 days of age as per religious custom and had not grown back. His motor milestones were delayed such that he started crawling at 14 months and was unable to walk independently. His weight was on the 0.4th centile and his height (72 cm) was far below the 0.4th centile. His anterior f...

Screening for coeliac disease is routine at annual review in the Oxfordshire Children’s Diabetes Service and oro-gastro-duodenoscopy (OGD) is carried out following positive serology. Our protocol for Diabetes management during Day Case Endoscopy for confirming CD was revised in 2002 following audit. We re-audited our current practice to check adherence to the protocol and degree of blood glucose control.Data was collected from case notes, nursing no...

Background: Point-of-care tests (POCT) for glucose promote timely clinical management. We assessed the precision and accuracy of POCT compared with laboratory measurements in children undergoing dynamic function tests.Methods: Split samples of venous blood were tested on POCT meters (Precision PCx Plus and Precision Xceed Pro) and in the laboratory (ADVIA 2400). Clinical reliability was assessed against the ISO 15197 standard: In at least 95% of cases, d...

Transitional care has become a high priority for the Department of Health (1). The paediatric and adult endocrinology teams have been running a joint transition service since October 2000. A review of this service was undertaken in order to examine its effectiveness and aid service improvement.The details of all 81 patients, who had been through transitional care since October 2000, were acquired. Both their electronic records and adult endocrinology not...

We present a difficult case of pituitary thyroid hormone resistance (PTHR) in a 6 year old girl. She presented at the age of 22 months with chronic cough, diarrhoea, failure to gain weight and gross motor delay. She was also noted to be hyperactive and clumsy with poor co-ordination. Persistent tachycardia was present on examination. Thyroid function tests revealed increased thyroid hormone concentrations with a free T4 of 63.7 pmol/l (9–25) and a free T3 of 20 pmol/l (3....

Myotonic Dystrophy is an autosomal dominant multi-system disorder characterised by muscle weakness and myotonia, with associated cardiac, ophthalmic, gastrointestinal and endocrine abnormalitiesA 16-year-old boy was referred with a 2 months history of difficulty releasing his hand-grip and problems with swallowing. The clinical diagnosis of myotonic dystrophy 1 was confirmed with genetic testing with the detection of a DMPK expansion mutation. During inv...

Neurological complications of thyroid disease are well recognised; however the distinct clinical entity of encephalopathy associated with autoimmune thyroid disease has been only occasionally reported in the paediatric population. We describe a case of Hashimoto’s encephalopathy (HE) in a teenage girl.A 13-year-old girl presented with seizures and prolonged confusion. Baseline blood tests, CSF analysis and CT Brain were essentially normal. She was d...

Children with congenital hypothyroidism (CH) due to anatomical defects (AD) have different thyroid hormone levels at presentation from those with dyshormonogenesis (DH). We set out to explore these differences at initial presentation and at follow up. We also compared calcitonin levels and growth in these subjects with healthy controls. Data for the CH children were collected from hospital notes for birth weight, gestation, sex, initial laboratory thyroid function, starting do...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by parathyroid, anterior pituitary and pancreatic islet tumours. Primary hyperparathyroidism is the first clinical manifestation in >85% of patients, although in some patients pancreatic and pituitary tumours may precede the occurrence of primary hyperparathyroidism. The earliest occurrence of MEN1-tumours has been reported at the age of 5 years following which the age-related penetr...