Endocrine Abstracts

Introduction: Although acromegaly and pituitary gigantism have the same pathological cause, they have different disease characteristics.Aim: To study tumour size, treatment course and the most common comorbidities in a population with young-onset acromegaly.Materials and Methods: UK Acromegaly Register (UKAR, 22 centres, 1997-2017) retrospective analysis, enriched with patients from the FIPA-consortium. We defined gigantism as diag...

Background: A systematic literature review (SLR) was conducted to assess the use of independent injections (self/partner/home-administered) as an alternative to healthcare-setting injections for chronic diseases. The primary objective was to identify studies reporting on independent injection of somatostatin analogues (SSAs). Comparative evidence on independent injection of other medications was examined as a secondary objective.Methods: MEDLINE/Embase/t...

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...

C-terminal derivatives of hormones commonly have secondary actions. This is a well-established phenomenon, seen in the case of oxytocin, parathyroid hormone and alpha-melanotropin. Such derivatives can either complement or antagonise the action of the parent hormone. Thyroid-releasing-hormone (TRH) undergoes cleavage and cyclisation to form the C-terminal derivative histidinyl-proline-diketopiperazine (His-Pro-DKP). Despite conventional function via the endocrine HPT axis, the...

Aim: The aim of investigation to determine clinical aggressiveness diagnostic markers in patients with non-functional pituitary adenomas (NFPA), and growth hormone deficiency (GHD) in the formation of gravity neuroendocrine disease symptoms.Material and methods: We observed in 87 patients (including man – 44 women – 43) of which have a verified diagnosis of NFPA after surgery – 31 which were subjected transnasal adenomectomy of the pituiat...

Introduction: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPA). We report a 4-generation FIPA kindred with a heterozygous AIP gene deletion in exon 2, highlighting the benefits of genetic screening and management challenges in affected subjects and asymptomatic carriers.Patients: A 45y woman died of a spinal ependymoma (obligate carrier)...

Introduction: Metformin is used as a first line treatment in type 2 diabetes. Several studies suggest that patients with type 2 diabetes treated with metformin may have reduced cancer risk. Recently it has been shown that Metformin acts directly on mitochondria to alter cellular bioenergetics and reduce tumorigenesis. We have shown that anti-proliferative effect of Mitotane is related with changes of expression of the genes involved in mitochondrial metabolism in human adrenoc...

Introduction: Tumours with aryl hydrocarbon receptor interacting (AIP) mutations often show an unusually aggressive and invasive clinical course as up to 80% of AIP positive pituitary adenomas have a certain degree of extrasellar extension. The exact mechanisms by which AIP inactivation promotes an aggressive behaviour remain unknown. The majority of adenohypophysis is composed of sinuous cords of epithelial cells and consequently, molecules that can induce remodellin...

Introduction: Mutations in the aryl hydrocarbon receptor-interaction protein (AIP) gene predisposes to growth hormone or prolactin secretin adenomas, usually, manifesting before the age of 30 years old. There are 834 variants of the AIP reported in the GnomAD database and over 100 variants have been described in patients with pituitary adenomas. While the pathogenic role of variants resulting in truncated protein is beyond doubt, determination of the clinical...