Combined Pituitary Hormone Deficiency 1 (POU1F1)

Combined pituitary hormone deficiency 1 is an autosomal recessive disorder caused by pathogenic variants in the gene POU1F1. This disorder is characterized by pleiotropic deficiencies of growth hormone, prolactin, and thyroid-stimulating hormone, with affected infants presenting with distinctive facial features, a hypoplastic pituitary gland, severe growth deficiency, and mental retardation. Treatment for this disorder involves growth and thyroid hormone replacement therapy. The life expectancy for this disorder is normal. Some heterozygous carrier may exhibit symptoms of the disorder.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):