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ODP400 A Mutation in the Gonadotropin Releasing Hormone Receptor Associated with Congenital Hypogonadotropic Hypogonadism with Absence of Uterus and Ovaries
INTRODUCTION: Mutations in the GNRH receptor may result in congenital hypogonadotropic hypogonadism (CHH) due to a deficiency in gonadotropins. Both autosomal dominant and recessive transmission patterns have been described. In young women, this presents with primary amenorrhea and a failure to prog...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625464/ http://dx.doi.org/10.1210/jendso/bvac150.1356 |