Searchable abstracts of presentations at key conferences in endocrinology

ea0044ep79 | (1) | SFEBES2016

Pseudoacromegaly - a differential diagnostic problem for acromegaly

Spencer Rupert , Dahlqvist Per , Dang Mary N. , Johannsson Gudmundur , Korbonits Marta

Introduction: Acromegaly is usually not a difficult condition to diagnose if the possibility of this diagnosis has been raised. However, there are a few conditions presenting with some aspects of acromegaly or gigantism but without growth hormone excess. Such cases are described as ‘pseudoacromegaly’ (acromegaloidism).Methods: A female patient was first investigated for GH excess at 10 y for tall stature since infancy (over 97th perc...

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...