FSHR and Primary amenorrhea: In this study, one novel heterozygous frameshift deletion (c.507delC:p.Phe170Leufs*4) and one reported heterozygous missense (c.1298C>A:p.Ala433Asp) in the FSHR (Table 2) were identified in POI-38, a 23-year-old girl presenting with primary amenorrhea and delayed puberty (Tables 1 and 2).