HEREDITARY PITUITARY DWARFISM WITH SPONTANEOUS PUBERTY

A family is reported in which 3 of 9 sibs, 2 males and 1 female, are pituitary dwarfs. The parents are first cousins. The patients have an isolated somatotropin deficiency, inherited as an autosomal recessive trait. Puberty was delayed, but occurred spontaneously, starting at about 17. There were no signs of thyrotropin or corticotropin deficiency. Plasma growth hormone levels were low, and there was no increase following insulin-induced hypoglycaemia. The youngest patient has been treated with human growth hormone for 2 years with good result. Of the genetic marker systems segregating in the family, calculations of linkage to this disease were indicative of free recombination concerning the ABO and MNS systems, and gave a very slight suggestion of linkage in the Rh, Inv, Gc, and Lp systems (see Appendix).