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Case Reports in EndocrinologyVolume 2013 2013, Article ID 970396, 4 pages

Case Report

Diabetes Care Program, Medstar Good Samaritan Hospital, 5601 Loch Raven Blvd, Baltimore, MD 21239, USA

Division of Endocrinology, Washington DC Veterans Affairs Medical Center DCVAMC, George Washington University, Washington, DC, USA

Received 19 January 2013; Accepted 6 February 2013

Academic Editors: M. A. Boyanov, I. Broom, O. Isozaki, and M. P. Kane

Copyright © 2013 Adline Ghazi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Pseudoacromegaly is characterized by an acromegalic appearance without any abnormality of growth hormone function. It may be caused by several congenital and acquired conditions. One such condition is the acromegaloid facial appearance AFA syndrome. This condition has been described in approximately eight cases-families. It encompasses a spectrum of acromegaloid physical findings, normal growth hormone GH and insulin-like growth factor one IGF-1 levels, and variable mode of inheritance. The most common physical findings are coarse facies, bulbous nose, and thickened lips. We present a case and a review of the literature on this illness. The patient is a 57-year-old woman who was referred to the endocrinology division for evaluation of suspected acromegaly. She had an acromegaloid appearance since birth as well as a terminal hypertrichosis. Her endocrine laboratory evaluation and chromosomal analyses were normal. AFA needs to be considered when evaluating any patient with pseudoacromegaly. Additional cases-families need to be identified in order to better understand the clinical spectrum, clinical implications, and mode of inheritance of AFA.





Autor: Adline Ghazi, Shikha Khosla, and Kenneth Becker

Fuente: https://www.hindawi.com/



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