IGSF1 deficiency syndrome

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.

Signs and symptoms

• Inappropriately normal thyroid-stimulating hormone level
• Hypothyroidism
• Reduced circulating prolactin concentration
• Overweight
• Reduced TSH response to thyrotrophin-releasing hormone stimulation test

Also known as: CHTE; X-linked central congenital hypothyroidism with late-onset macroorchidism; X-linked central congenital hypothyroidism with late-onset testicular enlargement; central hypothyroidism and testicular enlargement