This month the PNA Medical Corner spotlights an article co-authored by a member of the PNA, Dr. Ursula Kaiser, Chief of the Division of Endocrinology, Diabetes and Hypertension at Brigham and Women’s Hospital and Professor of Medicine at Harvard Medical School. The case report looks at early onset excess of growth hormone in the context of a somatotroph adenoma in a young adult.
GH-secreting pituitary adenomas can cause gigantism or acromegaly, determined by onset before or after epiphyseal fusion of the distal ends of the radius and ulna. Overlapping phenotypes can occur when the condition presents peripubertally. Gigantism is associated with identifiable hereditary causes and genetic mutations in almost 50% of cases; genetic testing should be considered in patients with gigantism and early-onset acromegaly, especially (but not only) when pituitary tumors have aggressive features and/or are refractory to standard treatments. Here, we present a case of a young adult with a giant somatotroph adenoma resistant to multiple treatment modalities and negative for mutations in AIP, which encodes aryl hydrocarbon receptor-interacting protein.
Keywords: acromegaly; genetics; gigantism; pituitary.
© 2023 The Author(s). Published by Oxford University Press on behalf of the Endocrine Society.