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

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

Rare Disease

MONDO:0010475

Also Known As

CHTEIGSF1 deficiency syndromeImmunoglobulin superfamily member 1 deficiency syndromeX-linked central congenital hypothyroidism with late-onset macroorchidismX-linked central congenital hypothyroidism with late-onset testicular enlargementcentral hypothyroidism and testicular enlargementhypothyroidism Central and testicular enlargementhypothyroidism, central, and testicular enlargement, X-linked recessivehypothyroidism, central, and 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.