Searchable abstracts of presentations at key conferences in endocrinology

ea0044p35 | Adrenal and Steroids | SFEBES2016

11β-hydroxysteroid dehydrogenase type 1 mediates anti-inflammatory, pro-inflammatory and inflammation-independent effects in primary human dermal fibroblasts

Farraj Layal Abi , Morgan Michael , Alase Adewonuola , Carr Ian , Stewart Paul , Tiganescu Ana

Glucocorticoids (GC) drive multiple adverse effects in skin e.g. epidermal thinning, dermal atrophy and impaired wound healing (WH). Our previous findings indicate increased expression of the GC-activating enzyme 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) in primary human dermal fibroblasts (HDF), full-thickness skin from older donors and during the inflammatory phase of mouse skin WH. We also reported protection from age-induced dermal atrophy and improved W...

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...

ea0099p513 | Pituitary and Neuroendocrinology | ECE2024

Novel mutations causing pachydermoperiostosis - hormonal and phenotypic alterations

Stelmachowska-Banaś Maria , Barry Sayka , Angurala Ishita , Rice Tom , Magid Kesson , Carreira Ana , Rai Ashutosh , Evans Amy , Bollington Mark , Kaur Vaishali , Alina Silaghi Cristina , McGregor Alan , Mandisodza Kudakwashe , Sahoo Jayaprakash , Gupta Rahul , Behera Kishore , Roy Ayan , Carr Ian , Loughrey Paul , Dutta Pinaki , Korbonits Marta

Background: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO) is a rare genetic disease characterised by clinical signs and symptoms which may overlap with acromegaly (pachydermia, hyperhidrosis and enlargement of hands and feet). In the majority of cases, the disease is due to biallelic loss-of-function variants in either of two genes, SLCO2A1 and HPGD playing an important role in prostaglandin metabolism. Although PHO patients are often ref...