Combined Pituitary Hormone Deficiency 3 (LHX3)
Combined pituitary hormone deficiency 3 is an autosomal recessive, pan-ethnic disorder caused by pathogenic variants in the gene LHX3. 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. If untreated, 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. Intellectual disability can also develop. Life expectancy is not shortened, and there are no known genotype-phenotype correlations.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.