Article
SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.
Neuroendocrinology - 1 Jan 2023
Schnöll Caroline, Krepischi Ana Cristina Victorino, Renck Alessandra Covallero, Amato Lorena Guimaraes Lima, Kulikowski Leslie Domenici, Dantas Naiara Castelo Branco, Costa Elaine Maria Frade, Mendonca Berenice Bilharinho, Latronico Ana Claudia, Jorge Alexander Augusto de Lima, Silveira Leticia Ferreira Gontijo
Abstract excerpt
INTRODUCTION: Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by GnRH deficiency. More than 40 genes have been associated with the pathogenesis of CHH, but most cases still remain without a molecular diagnosis. Mutations involving the same gene (e.g., FGFR1, PROK2/PROKR2, CHD7) were found to cause normosmic CHH and Kallmann syndrome (KS), with and without associated phenotypes,...
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