Searchable abstracts of presentations at key conferences in endocrinology

ea0002p44 | Endocrine tumours and neoplasia | SFE2001

A Role for Paracrine Expression of Ghrelin in the Colon?

Bustin S , Ogunkolade W , Khalaf S , Korbonits M , Fairclough P , Jenkins P

Background: We have recently demonstrated universal and high levels of expression of growth hormone in the human colon, despite the absence of GHRH or its receptor. Although ghrelin, recently shown to be an additional endogenous GH secretagogue, is expressed in the human colon, little is known about its distribution within the colon or function and whether any effects are GH-dependent.Aims: To investigate the mRNA expression of ghrelin and ...

ea0002p61 | Neuroendocrinology | SFE2001

MIF (Macrophage Migration Inhibitory Factor) is over-expressed in the nucleus of pituitary adenoma cells

Pyle M , Jordan S , Gueorguiev M , Meinhardt A , Metz C , Bucala R , Korbonits M , Grossman A

MIF can override the anti-inflammatory actions of glucocorticoids during immune response, and thus is an important pro-inflammatory factor. The presence of MIF in the cytoplasm of adenomatous cells of the anterior pituitary has been described, and high levels of MIF in other rapidly-proliferating tissues have been demonstrated. It is hypothesized that MIF release from these cells is influenced by the hypothalamo-pituitary-adrenal axis, and that ACTH and MIF are released simult...

ea0093oc25 | Oral communication 4: Pituitary and Neuroendocrinology | EYES2023

The genetic background of acromegaly in a tertiary referral centre in Krakow, Poland

Bogusławska Anna , Godlewska Magdalena , Rzepka Ewelina , Korbonits Marta , Hubalewska-Dydejczyk Alicja , Gilis-Januszewska Aleksandra

Introduction: Acromegaly is the most genetically determined pituitary disease.Objectives: We studied the prevalence of syndromic disease and germline mutations (AIP, MEN1, GNAS, PRKAR1A, CDKN1b) in a cohort of unselected, consecutive patients with acromegaly.Materials and methods: A total of 133 patients (79 females, 54 males, age range 16–75 years) with somatotroph pituitary neuroendocrine tumor who were studied at t...

ea0094p80 | Neuroendocrinology and Pituitary | SFEBES2023

Integrated multi-omics data reveals distinct regulatory signatures and signaling pathways of aryl hydrocarbon receptor interacting protein (AIP) knockout cells

Barry Sayka , Rai Ashutosh , Haworth Oliver , Rajeeve Vinothini , Cutillas Pedro , Korbonits Marta

Introduction: Aryl hydrocarbon receptor interacting protein (AIP) is a multifunctional co-chaperone protein with wide-ranging effects. It acts as a tumour suppressor in the pituitary, but may have other roles including oncogenic function in other tissues. To explore the molecular mechanisms, we have performed transcriptomic and phosphoproteomic analysis of Aip-knockout mouse embryonic fibroblasts (Aip-KO MEFs) cells and integrated these data sets.<p class=...

ea0094p91 | Neuroendocrinology and Pituitary | SFEBES2023

A novel AIP deletion emphasising the variable phenotype of AIP-related pituitary neuroendocrine tumours

Benjamin Loughrey Paul , J Morrison Patrick , K Ellis Peter , R Mullan Karen , Korbonits Marta

A 16-year-old female presented with secondary amenorrhoea. Menarche was age 14 years and periods were less frequent over the preceding 12 months. There was no galactorrhoea, headache or visual field disturbance and no known family history of pituitary disease, tall stature or infertility. There were no clinical signs of Cushing’s disease or acromegaly and visual fields were full to confrontation. Height was 160 cm. Investigations showed a prolactin of 2,452 mIU/l (RR 102-...

ea0077p81 | Neuroendocrinology and Pituitary | SFEBES2021

Is gigantism different from acromegaly in terms of causes of death, comorbidities and treatment? A preliminary retrospective study of 156 UK giants

Kaniuka-Jakubowska Sonia , Abeyaratne Dayakshi , Pal Aparna , Plummer Zoe , Archer Natasha , Ayuk John , Kaszubowski Mariusz , Wass John , Korbonits Marta

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...

ea0081p411 | Pituitary and Neuroendocrinology | ECE2022

Independent injection vs healthcare-setting administration of somatostatin analogues: A systematic literature review

Luiz Boguszewski Cesar , Korbonits Marta , Artignan Audrey , Martin Garcia Almudena , Houchard Aude , Ribeiro-Oliveira Antonio , W de Herder Wouter

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...

ea0050cc01 | Featured Clinical Cases | SFEBES2017

Novel ABCC9 mutation with Cantu syndrome-associated phenotype of hypertrichosis with acromegaloid facial features (HAFF) with coexisting familial pituitary adenoma

Marques Pedro , Ronaldson Amy , Spencer Rupert , Morrison Patrick , Carr Ian , Dang Mary , Bonthron David , Hunter Steven , Korbonits Marta

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...

ea0050cc01 | Featured Clinical Cases | SFEBES2017

Novel ABCC9 mutation with Cantu syndrome-associated phenotype of hypertrichosis with acromegaloid facial features (HAFF) with coexisting familial pituitary adenoma

Marques Pedro , Ronaldson Amy , Spencer Rupert , Morrison Patrick , Carr Ian , Dang Mary , Bonthron David , Hunter Steven , Korbonits Marta

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...

ea0065p441 | Thyroid | SFEBES2019

Inhibitory actions of diketopiperazines within the thyroid gland, and their system-wide presence

Raja Umma , Garcia Edwin , The Crystalline , Sun Dijou , Collis Dominic , Ghilchik Margaret , King Peter , Korbonits Marta , Smyth Derek

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...