Hietamäki J, Gregory LC, Ayoub S, et al. - In the present study, the researchers sought to characterize individuals with syndromic hypopituitarism due to biallelic loss-of-function variants in TBC1D32, a gene implicated in Sonic Hedgehog (Shh) signaling. They examined a Finnish family including two affected siblings with an absent anterior pituitary, ectopic posterior pituitary, mild craniofacial dysmorphism, and progressive retinal dystrophy, and a consanguineous Pakistani family with a proband who presented with developmental delay and features suggestive of oral-facial-digital syndrome correlated with growth hormone deficiency. Findings suggested that biallelic TBC1D32 variants underlie syndromic hypopituitarism, and may be the underlying mechanism by disrupted Shh signaling.