Pituitary dwarfism type III or combined pituitary hormone deficiency (CPHD) has an incidence of ~one/8,000 births. Affected individuals have growth failure, delayed or incomplete secondary sexual development with infertility, shortened life expectancy and features associated with deficiencies of anterior pituitary tropic hormones including growth hormone (GH), TSH, LH, FSH, PRL and ACTH. The overall goals are to 1) identify genes whose products are required for normal pituitary development and maintenance of pituitary function and 2) determine the allelic variations of these genes that cause CPHD and the associated failure of somatic and secondary sexual development by perturbing normal pituitary development and maintenance of its function. To achieve these goals the investigator plans to 1) determine the location of the human CPHD locus or loci by genomic mapping, 2) identify positional candidates for the CPHD gene(s) and 3) determine the allelic defects in the CPHD gene(s) that cause inherited deficiencies of anterior pituitary tropic hormones.
| Pernasetti, F; Toledo, S P; Vasilyev, V V et al. (2000) Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene. J Clin Endocrinol Metab 85:390-7 |
| Wu, W; Cogan, J D; Pfaffle, R W et al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 18:147-9 |
| Cogan, J D; Wu, W; Phillips 3rd, J A et al. (1998) The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. J Clin Endocrinol Metab 83:3346-9 |
| Cogan, J D; Phillips 3rd, J A (1998) Growth disorders caused by genetic defects in the growth hormone pathway. Adv Pediatr 45:337-61 |
