Monozygotic twins P6 and P7 from a consanguineous family with a novel homozygous variant p.Glu391GlyfsTer4 in the DCAF17 gene manifested primary amenorrhea, ovarian agenesis, hypoplastic uterus, secondary hypothyroidism, short stature, global developmental delay, mild intellectual disability, broad chest, wide-set nipples, genu valgum, broad tip of the nose, high palate, widely spaced incisors, cone-shaped fingers, consistent with diagnosis of Woodhouse-Sakati syndrome. Here, DCAF17 is linked to isolated thyroid-stimulating hormone deficiency.