label: X-linked central congenital hypothyroidism with late-onset testicular enlargement
label_lc: x-linked central congenital hypothyroidism with late-onset testicular enlargement
description: An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.