publication . Article . Other literature type . 2015

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

Naves, Luciana Ansaneli; Daly, Adrian; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Junior, Armindo Jreige; ...
Open Access English
  • Published: 25 Nov 2015
Abstract
X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 x 23.9 x 29.1 mm. Treatment was declined and the famil...
Subjects
free text keywords: : Endocrinology, metabolism & nutrition [Human health sciences], Pituitary adenoma, X-linked acro-gigantism syndrome, Giant, FIPA, GPR101, : Endocrinologie, métabolisme & nutrition [Sciences de la santé humaine], Article
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publication . Article . Other literature type . 2015

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

Naves, Luciana Ansaneli; Daly, Adrian; Dias, Luiz Augusto; Yuan, Bo; Zakir, Juliano Coelho Oliveira; Barra, Gustavo Barcellos; Palmeira, Leonor; Villa, Chiara; Trivellin, Giampaolo; Junior, Armindo Jreige; ...