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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...

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Detalles Bibliográficos
Autores principales: Alabi, Omolabake, Manavalan, Anjali, Moorthy, Tiahna, Khan, Usman Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625464/
http://dx.doi.org/10.1210/jendso/bvac150.1356