Endocrine Abstracts

There is increasing recognition that pituitary adenomas may occur in a familial setting, and a number of families have been identified to have familial isolated pituitary adenoma (FIPA), without features of the MEN1 syndrome, Carney complex, or other known familial disorders. Heterozygote germline mutations were identified in a gene encoding AIP (aryl-hydrocarbon receptor interacting protein) in some FIPA families. We have characterised our unique large collection of 140 famil...

We report three patients who were referred for possible chronic fatigue syndrome and presented with a long standing history of a multitude of symptoms. Comprehensive investigations revealed a low IGF1 and subsequent insulin tolerance test (ITT) demonstrated growth-hormone (GH) deficiency with a normal MRI pituitary in each case. The first patient presented at the age of 34 years with lethargy, aches and difficulty concentrating. Biochemically the only abnormality in th]e basal...

We report two patients with thyroid nodules where thyroid cancer has unexpectedly been found. The first patient presented at the age of 58 years with a lump in her neck. She was clinically and biochemically euthyroid. Ultrasound revealed a solitary left hypoechoic nodule (23×17 mm), with no other suspicious sonographic features. She had two FNA’s over a two year period which were reported as showing no malignant cells (THY2). Three annual ultrasounds showed no change...

Introduction Diabetes is a strong risk factor for coronary heart disease (CHD). Coronary artery calcium measurement (CAC) provides a non-invasive accurate assessment of the presence and severity of CHD, and thus the need for further cardiological investigations and risk-factor modifications.Methods We analysed data from CACS assessment on 3337 male subjects who had no cardiovascular symptoms, of whom 188 had diabetes. CACS was measured by an Electron Bea...

While pituitary adenomas (PA) usually occur as a sporadic disease, an increasing number of patients are recognised with a family member also suffering from a PA. If no other syndromic features are present, these families are categorised as FIPA. In published studies, 20% of the FIPA families, 20% of sporadic childhood and 13% of sporadic young-onset (≤30 years) acromegaly patients carry a germline AIP mutation. As familial disease is more aggressive, family scre...

Background: Familial pituitary adenomas can occur in the classic syndromes of MEN-1 and Carney complex. Recently an autosomal dominant disease with incomplete penetrance has been described as ‘familial-isolated-pituitary-adenoma’ (FIPA). Previous studies of familial acromegaly and gigantism disclosed germline mutations in the AIP gene located in the previously suspected chromosome 11q13 region.Aims: To analyse the prevalence of AIP-mutations in...