Journal of pediatric endocrinology & metabolism : JPEM · 2022
Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Griffero Mariana, Benedetti Anna Flavia Figueredo, Pérez Marcela, Carvalho Luciani, Jorge Alexander, Latronico Ana Claudia, Mendonca Berenice, Arnhold Ivo, Mericq Verónica
Аннотация
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 hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in OTX2 c.426dupC:p.(Ser143Leufs*2).
CONCLUSIONS: Mutations in the transcription factor OTX2 have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in OTX2 associated with hypopituitarism without an ocular phenotype.
CASE PRESENTATION: We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in OTX2 c.426dupC:p.(Ser143Leufs*2).
CONCLUSIONS: Mutations in the transcription factor OTX2 have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in OTX2 associated with hypopituitarism without an ocular phenotype.