Aggressive tumor growth and clinical evolution in a XXXX with @entity1112 .

@entity1 @entity410 @entity1276 @entity9229 @entity5 @entity1112 @entity442 @entity11125 @entity72315 @entity977 @entity74 @entity1943 @entity10
UNASSIGNED: X-linked acro- @entity11125 (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of @entity72315 . We describe the clinical progress of a sporadic @entity1112 @entity1 with an Xq26.3 microduplication, highlighting the aggressive natural history of @entity977 growth in the absence of treatment. The @entity1 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 @entity442 . 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 @entity10 , @entity410 , 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 @entity1276 . His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, @entity1943 analogs, and @entity9229 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 @entity74 in which early-onset pituitary tumorigenesis can lead to marked overgrowth and @entity11125 . This case illustrates the aggressive nature of @entity5 evolution and the challenging clinical management in X-LAG syndrome.
