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Article

Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jun 2022

Griffero Mariana, Benedetti Anna Flavia Figueredo, Pérez Marcela, Carvalho Luciani, Jorge Alexander, Latronico Ana Claudia, Mendonca Berenice, Arnhold Ivo, Mericq Verónica

Abstract excerpt

OBJECTIVES: The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including OTX2. OTX2 mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations. CASE PRESENTATION: We report a girl with hypopituitarism associated with pituitary...

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Identifiers

PMID: 35320640
DOI: 10.1515/jpem-2021-0719

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