Endocrine Abstracts

Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene predispose to early onset pituitary adenoma, with a preponderance of somatotrophinomas. Patients harbouring an AIP mutation respond poorly to somatostatin analogue (SSA) treatment. On the other hand, a subset of sporadic somatotrophinomas with no AIP mutations show low AIP protein expression and exhibit a decreased response to SSA treatment as well. microRNAs are small...

Introduction: Recently, major advances have been made in genetics of familial acromegaly and isolated pituitary adenoma (FIPA). Mutations in the aryl hydrocarbon interacting protein (AIP) gene have been found in 25–50% of patients with FIPA and familial acromegaly.Aim of the study: Our goal was to identify and collect data on patients who met the criteria for FIPA.Patients and methods: The patients were identified between 2008...

Background: The detectable levels of thyroid antibodies in patients suffering from Riedel’s chronic fibrosing thyroiditis (RT) suggest a link between RT and Hashimoto’s thyroiditis, but the pathogenesis of RT is not really known. Lyme disease is the most frequent tick-borne infection with variable manifestations in different organs caused by Borrelia burgdorferi (Bb).Case report: A 59-year-old woman presented in our outpatient clinic wit...

Case history: A 63-year-old female presented with bi-temporal hemianopia. Pituitary MRI demonstrated a macroadenoma with suprasellar extension. Her medical history included a glomus tumour of the right ear treated with external beam radiotherapy (EBRT) 25 years previously. She had no evidence of pituitary hormone abnormality and had normal urinary metanephrines levels. She underwent transsphenoidal surgery with total resection and full recovery of her visual fields. Immunohist...

Acromegaly is a rare disorder caused by growth hormone (GH) and insulin-like growth factor I (IGF-I) overproduction, associated with increased morbidity and mortality. It has different complications, among which insulin resistance, prediabetes and diabetes mellitus are substantial. GH affects glucose metabolism through different mechanisms. The therapy of GH overproduction (for example surgical or radiotherapy) improves glucose metabolism, while different types of medical ther...

Pituitary adenomas and phaeochromocytoma/paragangliomas (PHAEO/PGL) can very rarely occur in the same patient or in the same family. Together, they are not known to be part of any classical endocrine neoplasia syndromes. In some caes the pathogenetic mechanism may be secondary to a PHAEO secreting GHRH leading to somatotroph hyperplasia and clinical acromegaly. However, we suggest several other mechanisms which could lead to the development of pituitary and PHAEO/PGL together:...

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...