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hrp0092p1-100 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

RNPC3 Mutations Associate Prolactin Deficiency and Ovarian Insufficiency, Expanding the Phenotype Beyond Isolated Growth Hormone Deficiency Type V (MIM#618860)

Martos-Moreno Gabriel Á. , Travieso-Suárez Lourdes , Pozo Jesús , Chowen Julie , Pérez-Jurado Luis A. , Argente Jesús

Background: The first three children reported to have biallelic mutations in RNPC3 presented with growth hormone (GH) deficiency and pituitary hypoplasia (MIM#618860). RNPC3 codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. The underlying mechanism causing GH deficiency in these patients is not fully understood. Moreover, whether the association of further ho...

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ESPE Abstracts

RNPC3 Mutations Associate Prolactin Deficiency and Ovarian Insufficiency, Expanding the Phenotype Beyond Isolated Growth Hormone Deficiency Type V (MIM#618860)

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