combined pituitary hormone deficiency 2

A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35.

Signs and symptoms

• Decreased circulating luteinizing hormone level
• Decreased circulating follicle stimulating hormone concentration
• Reduced circulating growth hormone concentration
• Decreased thyroid-stimulating hormone level
• Reduced circulating prolactin concentration
• Panhypopituitarism
• Short stature
• Seizure
• Hypoglycemic seizures
• Hypothyroidism

Also known as: CPHD2