Term Name: | IGSF1 deficiency syndrome |
---|---|
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 |
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. |
Ontology: | Human Disease [DOID:0111140] ( DOID:0111140 ) |