It is characterized by GH and IGF-1 excess leading to acromegaly, accelerated growth velocity, and increased height/weight deviation from the standard growth curve prior to epiphyseal closure ( 1, 2, 4, 6). In most cases, prolactin (PRL) concentrations are also markedly elevated ( 2, 7). X-LAG is caused by a microduplication of GPR101 on chromosome Xq26.3 ( 2, 3, 6, 7). GPR101 is thought to play a role in the development of the GHRH–GH axis and encodes a G-protein coupled receptor that strongly activates the cAMP pathway and stimulates proliferation of pituitary cells and secretion of PRL and GH ( 2, 5, 8). In contrast to other causes of gigantism for which male predominance is observed, X-LAG is female-predominant (78%), with median age of onset of 1.0 years (0.5 to 2.0), much younger than the median of 16.0 years (5.0 to 18.0) in other gigantism cases ( 1–4, 6, 8). Treatment is challenging, with a combination of therapeutic approaches necessary to achieve suppression of elevated hormone effects and control of tumor size ( 2, 3, 8, 9). Resection of the tumor reveals characteristic histologic features including sinusoidal and lobular architectures with scattered follicles and calcifications. The pituitary adenomas are thought to be mixed somatotroph-lactotroph adenomas with pituitary-specific transcription factor-1 (PIT1) expression ( 2, 6). We now describe the clinical course for the son of a previously described case of X-LAG ( 10, 11). Additionally, we compare the mother and son’s pathology that provides further insight into the tumors of X-LAG. This report follows a patient with familial X-LAG prospectively starting at prenatal diagnosis and affords the unique opportunity to compare clinical courses and histopathology findings. These observations help elucidate the pathophysiology, tumorigenesis, and clinical presentation of pediatric pituitary adenomas.

Case Report and Methods Clinical caseĬlinical, laboratory, and radiological data were collected from the time of the infant’s prenatal diagnosis to his most recent clinic visit.

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