부산대학교 도서관

FPD is quite rare and the available data indicate different modes of inheritance. We present here in eleven cases of FPD, which belong to four family trees. FT1) The affected members are father and son. The father has isolated GH deficiency, While the son has ADH and GH deficiency with no response to GHRH. The pituitary fossa is extremely small. FT2) The known affected members are the index case, a boy, his mother and the mother's brother. All 3 members had low GH values post clonidine or L-DOPA, with a good respone to exogenous GHRH. We thus presume that the defect lies in the GHRH synthesis or secretion. FT3) Two females, first cousins, with isolated GH deficiency, whose mothers are sisters and of short stature. The mothers have not been tested as yet. FT4) Four affected members, 2 girls and 2 boys, who belong to four related families, inhabitants of a small village. The low GH values did not rise following exogenous GHRH. Besides GH, other pituitary hormone deficiencies were present in different combinations. DNA analysis of all affected members is in grogress. The available data denote that familial pituitary dwarfism has diverse etiology, and extensive studies are needed to determine etiology, pathoqenesis and the genetics involved.