IGSF1 deficiency syndrome

  title={IGSF1 deficiency syndrome},
  author={Sjoerd D. Joustra and A S Paul van Trotsenburg and Yu Sun and Monique Losekoot and Daniel J Bernard and Nienke R Biermasz and Wilma Oostdijk and Jan Maarten Wit},
  booktitle={Rare diseases},
A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by congenital central hypothyroidism and macroorchidism, variable prolactin deficiency, occasional growth hormone deficiency, delayed pubertal testosterone secretion and obesity. We propose to call this endocrinopathy "IGSF1 deficiency syndrome." Based on an estimated incidence of isolated congenital central hypothyroidism of 1:65,000, we predict that the incidence of IGSF1 deficiency related… CONTINUE READING