Hereditary pituitary dwarfism with spontaneous puberty.

It is now well established that pituitary dwarfism may be recessively inherited (Hanhart, 1925; Nowakowski and Lenz, 1961; Trygstad and Seip, 1964; Rimoin, Merimee, and McKusick, 1966). The condition has repeatedly been observed in sibs (Biben and Gordan, 1955; Scharer and Prader, 1960; Nowakowski and Lenz, 1961; Trygstad and Seip, 1964; Bierich, 1964; Brasel, Wright, Wilkins, and Blizzard, 1965; Rimoin et al., 1966), and sometimes as the result of consanguineous marriages (Hanhart, 1925; Rimoin et al., 1966; this report), or in cousins (Trygstad and Seip, 1964). Probably the 28 cases of inherited dwarfism reported by Hanhart in 1925 from Oberegg and Samnauntal in Switzerland, and from the island of Veglia in Yugoslavia, were of pituitary origin, though diagnostic criteria were less well established at that time. It has been commonly believed that pituitary dwarfs do not mature sexually, or at least do so very poorly, due to lack of pituitary gonadotropic hormones in addition to the somatotropin deficiency. But this is not always the case (Hewer, 1944; Antonin, 1961; Bierich, 1964; Brasel et al., 1965; Rimoin et al., 1966). At least four different forms of inherited pituitary dwarfism seem to have been established. (a) In the most common, all or several anterior pituitary hormones are deficient, though often to a variable degree. These dwarfs do not mature sexually. (b) Steiner and Boggs (1965) have described congenital absence of the pituitary gland with hypothyroidism, hypoadrenalism, and hypogonadism in two sibs, brother and sister, offspring of first-cousin parents. (c) Laron, Pertzelan, and Mannheimer (1966) have reported an interesting sibship with evidence of a functional deficiency of growth hormone, though radioimmunoassay gave high values of