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Endocrine. 2016 Feb;51(2):236-44. doi: 10.1007/s12020-015-0804-6. Epub 2015 Nov 25.

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

Author information

  • 1Department of Endocrinology, Faculty of Medicine, University of Brasilia, Brasília, Brazil. draluciananaves@gmail.com.
  • 2Departments of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000, Liège, Belgium.
  • 3Department of Neurosurgery, Federal District Base Hospital, Brasília, Brazil.
  • 4Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • 5Department of Endocrinology, Faculty of Medicine, University of Brasilia, Brasília, Brazil.
  • 6Laboratorio Sabin de Análises Clínicas Brasilia, Brasília, Brazil.
  • 7Department of Pathology, Hopital Foch, Suresnes Cedex, France.
  • 8Section on Endocrinology and Genetics, Program on Developmental Endocrinology & Genetics & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health (NIH), Bethesda, MD, 20892, USA.
  • 9Department of Pathology, Faculty of Medicine, University of Brasilia, Brasília, Brazil.
  • 10Helmholtz Zentrum Munchen, Institute of Pathology, Neuherberg, Germany.
  • 11Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • 12Texas Children's Hospital, Houston, TX, USA.
  • 13Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • 14Departments of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000, Liège, Belgium. albert.beckers@chu.ulg.ac.be.

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 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.

KEYWORDS:

FIPA; GPR101; Giant; Pituitary adenoma; X-linked acro-gigantism syndrome

PMID:
26607152
DOI:
10.1007/s12020-015-0804-6
[PubMed - indexed for MEDLINE]
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