has material basis in germline mutation in IGSF1 X-linked disease syndromic disease X-linked central congenital hypothyroidism with late-onset testicular enlargement https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/hypothyroidism_central_with_testicular_enlargement X-linked central congenital hypothyroidism with late-onset testicular enlargement Orphanet:329235 MEDGEN:763877 hypothyroidism, central, and testicular enlargement, X-linked recessive CHTE UMLS:C3550963 Immunoglobulin superfamily member 1 deficiency syndrome 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. hypothyroidism Central and testicular enlargement NCIT:C130989 IGSF1 deficiency syndrome hypothyroidism, central, and testicular enlargement OMIM:300888 MONDO:0010475 GARD:0017499 DOID:0111140 X-linked central congenital hypothyroidism with late-onset macroorchidism central congenital hypothyroidism