POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.
Swati JadhavChakra DiwakerAnurag Ranjan LilaJugal V GadaShantanu KaleVijaya SarathiPuja M ThadaniSneha AryaVirendra A PatilNalini S ShahTushar R BandgarPublished in: Pituitary (2021)
We present largest series of POU1F1 mutation-positive patients. Precocious puberty and defective pubarche are lesser-appreciated phenotypic features. Our mutation spectrum is different from that of world literature. Patients with heterozygous mutations have milder phenotype.