IGSF1deficiency primarily affects boys but girls may also be affected although in a mild form. Thyroid hormone is essential for normal growth, psychomotor development and metabolism. If left untreated central hypothyroidism may lead to poor growth, developmental delay and slow metabolism. Besides central hypothyroidism boys may also have large testicles (medical term: macroorchidism). Puberty may be delayed and in some cases growth hormone production may be insufficient.
IGSF1