Abstract Search

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...

0 shares

ePoster

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

0 shares

ePoster

Endocrine Abstracts

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

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

BiosciAbstracts