ABSTRACT
Based upon the work of perceptive clinicians and experimentalists, the anterior pituitary, adrenals, gonads, and thyroid represent the glands of the classical endocrine system with established roles in skin and hair. This chapter summarizes the information on mutant genes demonstrated to alter endocrine function as a part of their phenotype. Some of the literature is definitive for mutant gene-induced primary endocrine dysfunction, while other literature offers tantalizing suggestions of endocrine dysfunction. Mutations with known direct effects on target tissue ability to respond to or to produce hormones are synopsized in more detail. The first endocrine mutant, Snell dwarf, was described as a spontaneous autosomal recessive mutation in a silver strain of mice. The mutant gene designated little was shown to be linked to hypodactyly on proximal Chromosome 6. The mutant gene hypothyroid was proved to be the result of an autosomal recessive gene on Chromosome 12 using the Robertsonian translocation.
