IGSF1 deficiency syndrome (DOID:0111140)
Alliance: disease page
Synonyms: central hypothyroidism and testicular enlargement; CHTE; X-linked central congenital hypothyroidism with late-onset macroorchidism; X-linked central congenital hypothyroidism with late-onset testicular enlargement
Alt IDs: OMIM:300888, ICD10CM:E03.1, ORDO:329235
Definition: A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26.