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Up to: Syndromic disease · X-linked disease · Central congenital hypothyroidism
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.
This condition has no sub-types.