X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Definition
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.
Also known as CHTE, hypothyroidism Central and testicular enlargement, hypothyroidism, central, and testicular enlargement, X-linked recessive, IGSF1 deficiency syndrome, Immunoglobulin superfamily member 1 deficiency syndrome, X-linked central congenital hypothyroidism with late-onset macroorchidism, X-linked central congenital hypothyroidism with late-onset testicular enlargement — per MONDO