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 )

Relationships
is a type of: syndrome X-linked recessive disease