POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency

摘要

Combined pituitary hormone deficiency (CPHD) is characterized by the impaired production of GH together with one or more of other pituitary hormones. The most commonly recognized genetic defects associated with CPHD include mutations within PROP1, POU1F1, HESX1, LHX3, LHX4, OTX2, GLI2, and SOX3. The phenotype connected to POU1F1 mutations is characterized by profound GH and PRL deficiencies, variable degrees of TSH deficiency, severe proportional short stature, atypical facies, and feeding difficulties in infancy. Patients harboring mutations within PROP1 gene present with GH, PRL, and TSH deficiencies in addition to variable defects in luteinizing hormone/follicle-stimulating hormone and adrenocorticotropic hormone secretion. PROP1 mutations are the most common known genetic cause of CPHD cases.