Combined Pituitary Hormone Deficiency 2 (PROP1)

Combined pituitary hormone deficiency 2 is an autosomal recessive, pan-ethnic disorder caused by pathogenic variants in the gene PROP1. Patients with this disorder have deficiencies of multiple hormones produced by the pituitary gland, including growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle-stimulating hormone, prolactin, and adrenocorticotropic hormone. Deficiencies of growth hormone result in a very short stature, beginning in infancy or childhood; deficiencies of the other hormones cause hypothyroidism and delayed or incomplete development of secondary sexual characteristics and infertility. Life expectancy is not shortened, and there are no known genotype-phenotype correlations.

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

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