Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis

• Main Authors: Asma Sassi, M.D (Author), Julie Désir, M.D., Ph.D (Author), Véronique Janssens, B.Sc (Author), Martina Marangoni, M.Sc (Author), Dorien Daneels, M.Sc (Author), Alexander Gheldof, Ph.D (Author), Maryse Bonduelle, M.D., Ph.D (Author), Sonia Van Dooren, Ph.D (Author), Sabine Costagliola, Ph.D (Author), Anne Delbaere, M.D., Ph.D (Author)
• Format: Book
• Published: Elsevier, 2020-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To find the genetic etiology of premature ovarian insufficiency (POI) in a patient with primary amenorrhea and hypergonadotropic hypogonadism. Design: Case report. Setting: University hospital. Patient(s): A Belgian woman aged 32 years with POI at the age of 17, her parents, and her siste...