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...

Anterior pituitary dysfunction is a well-recognized complication of traumatic brain injury (TBI) but recovery is an exceptional event, with only three previously published case reports.We report a case of a 25 year old man who suffered severe TBI in a road traffic accident in 1997. His neurological recovery was slow and incomplete with significant cognitive deficit and recurrent seizures. He developed polyphagia and his weight increased by 20 Kilograms i...

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...

Familial Hypocalciuric Hypercalcaemia (FHH), originally described in 1966, was first linked to mutations in the Calcium-Sensing Receptor (CaSR) gene in 1993. FHH results from inactivating mutations affecting a single allele inherited in an autosomal dominant pattern. The calcium-sensing receptor is a cell surface-expressed G protein-coupled receptor with 1078 amino acids. Gene mutations are usually single-point in nature and result in an elevated set point for calcium sensing ...

Background: Previous population studies suggest cancer morbidity is different in Turner syndrome (TS) compared to the background female population. Whilst gonadoblastoma is well recognized in TS with Y chromosome material, studies have suggested increased prevalence of skin tumours and meningioma but reduced incidence of breast cancer.Methods: Retrospective analysis of an adult TS clinic patient database identified women who developed cancer. Tumour type...

Introduction: Acromegaly is a rare metabolic condition in adults caused by over secretion of growth hormone from the pituitary gland. The characteristic skeletal and organ overgrowth and dental mal-occlusion issues are so insidious that they go unnoticed by the patient and family. The dentist may be the first healthcare provider to see these patients, thereby proving instrumental in early diagnosis. We report two cases of acromegaly: one case identified by a dentist and anothe...

Microprolactinomas are considered not to cause pituitary hormone dysfunction, but there is little data available on the prevalence of hormone deficiencies. We aimed to establish the frequency of pituitary hormone dysfunction in patients with hyperprolactinaemia.We examined the casenotes of 124 consecutive patients (85 females) with documented hyperprolactinemia from our pituitary data-base. 52 patients had macroadenomas (tumour > 1cm diameter), 64 mic...