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

TitleAggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.
Publication TypeJournal Article
Year of Publication2016
AuthorsNaves, LA, Daly, AF, Dias, LAugusto, Yuan, B, Zakir, JCoelho Oli, Barra, GBarcellos, Palmeira, L, Villa, C, Trivellin, G, Júnior, AJreige, Neto, FFigueiredo, Liu, P, Pellegata, NS, Stratakis, CA, Lupski, JR, Beckers, A
Date Published2016 Feb
KeywordsAdenoma, Child, Genetic Diseases, X-Linked, Gigantism, Humans, Male, Pituitary Neoplasms, Treatment Outcome

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.

Alternate JournalEndocrine
PubMed ID26607152
PubMed Central IDPMC5497487
Grant ListU54 HG006542 / HG / NHGRI NIH HHS / United States
R01NS058529 / NS / NINDS NIH HHS / United States
ZIA HD008920-07 / / Intramural NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
R01 NS058529 / NS / NINDS NIH HHS / United States

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