Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.

Autor: Cassin J; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and.; Center for Circadian Biology, University of California, San Diego, La Jolla, California, USA., Stamou MI; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Keefe KW; Center for Infertility and Reproductive Surgery, Brigham and Women's Hospital, Boston, Massachusetts, USA., Sung KE; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and., Bojo CC; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and., Tonsfeldt KJ; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and.; Center for Circadian Biology, University of California, San Diego, La Jolla, California, USA., Rojas RA; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Ferreira Lopes V; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Plummer L; Center for Infertility and Reproductive Surgery, Brigham and Women's Hospital, Boston, Massachusetts, USA., Salnikov KB; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Keefe DL Jr; Center for Infertility and Reproductive Surgery, Brigham and Women's Hospital, Boston, Massachusetts, USA., Ozata M; Gulhane School of Medicine, Ankara, Turkey., Genel M; Section of Pediatric Endocrinology, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Georgopoulos NA; Division of Endocrinology, Department of Medicine, University of Patras Medical School, Patras, Greece., Hall JE; National Institute of Environmental Health Sciences, Durham, North Carolina, USA., Crowley WF Jr; Endocrine Unit, Department of Medicine, and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Seminara SB; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Mellon PL; Department of Obstetrics, Gynecology, and Reproductive Sciences; Center for Reproductive Science and Medicine; and.; Center for Circadian Biology, University of California, San Diego, La Jolla, California, USA., Balasubramanian R; Massachusetts General Hospital Harvard Center for Reproductive Medicine and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.

Publikováno v: JCI insight [JCI Insight] 2023 Feb 08; Vol. 8 (3). Date of Electronic Publication: 2023 Feb 08.