IGSF1 deficiency syndrome

Term ID

DOID:0111140

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. (2)

References

• ICD10CM:E03.1
• OMIM:300888
• ORDO:329235

Ontology

Human Disease   ( DOID:0111140 )