X-linked central congenital hypothyroidism with late-onset testicular enlargement

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, 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, hypothyroidism Central and testicular enlargement, hypothyroidism, central, and testicular enlargement, X-linked recessive, hypothyroidism, central, and testicular enlargement

1 clinical trial for this condition and its sub-types, 0 tagged with X-linked central congenital hypothyroidism with late-onset testicular enlargement itself.