|Name||IGSF1 deficiency syndrome|
|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.
central hypothyroidism and testicular enlargement [EXACT]
X-linked central congenital hypothyroidism with late-onset macroorchidism [EXACT]
X-linked central congenital hypothyroidism with late-onset testicular enlargement [EXACT]