All step 3 probands are currently being treated that have the hormone estrogen and you can progesterone substitute for therapy and feeling typical monthly period cycles

Detail by detail health-related findings are given in Extra Table step 1 (supplemental procedure available with this specific blog post; doi:/JCI78473DS1). Most of the step 3 sisters enjoys a normal 46,XX karyotype, elevated FSH accounts, infantile uteri, and you will short ovaries (Extra Profile step 1). All of the step three customers was and additionally identified as having hypothyroidism and you may responded to thyroxine. The caretaker (III-2) entered menarche in the many years fourteen, claimed normal pubertal innovation, and you will normal menstrual attacks (26–28 time menstrual schedules) until the girl middle-40s, along with her last recorded menstrual cycle is at age 49. (more…)