New patients with duplication of the pituitary gland–plus syndrome, including a PTCH2 variant and a literature review

Duplication of the Pituitary Gland Plus Syndrome is an extremely rare condition, with fewer than 60 cases reported worldwide. It involves having two pituitary glands, abnormal neck bones, cleft palate, and a teratoma (benign tumor) inside the mouth at birth—features that suggest a genetic cause rather than occurring by chance. We report the first two known cases in Thailand. Genetic testing found a variation in the PTCH2 gene, part of the Hedgehog signaling pathway, which is important in early development. While the exact role of this gene change is unclear, we believe the condition may result from a combination of genetic disruptions affecting this pathway during pregnancy. (By Dr Duangrurdee Wattanasirichaigoon, https://jmg.bmj.com/content/early/2025/08/12/jmg-2024-110417 )

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