Autopsy findings in a case of pituitary dwarfism.

Although the condition of pituitary dwarfism has been recognized for some considerable time, there is still a relative lack of published autopsy findings and the following case is reported briefly for this reason. Lack of hypophysial growth hormone (almost certainly elaborated in the alpha cells of the pars anterior) during infancy or childhood results in varying degrees of under-development which may range from obvious dwarfism to slight degrees of lack of normal stature. In some cases, so-called primordial dwarfs may be small at birth and grow at a much reduced rate, while in others the child may grow normally for a varying period of time. The term infantilism, sometimes used synonymously with dwarfism, may more strictly be applied to individuals in whom there is impairment of growth, sexual development and intellect while nanism implies restriction of growth in stature only. Infantilism is often referred to as the Levi-Lorain syndrome, the condition having been described by Lorain (1871) and by Levi (1908). Post-mortem studies are infrequent since the uncomplicated condition is not incompatible with good health. In childhood the patient is perfectly formed but somatic growth is slow. Development of the primary and secondary sexual phenomena does not occur at puberty and the genitalia usually remain infantile. This is not invariable, however, and some limited degree of sexual development may occur. Epiphyseal closure may be delayed but the ultimate stature attained is considerably below normal due to lack of growth hormone. Purely intellectual development may be satisfactory but emotional and behaviour patterns may be immature. These patients are slender with graceful limbs, ankles and wrists, and they often have fine, smooth skin and soft silky hair (Price, 1946). Hypophysial dwarfs are usually born of normal parents, and some cases are recorded of hypophysial dwarfs producing normal offspring. They show good body symmetry, the physique being that of early childhood in which the lower measurements are relatively short. Most are thin and obesity is rather uncommon. The genitalia are generally under-developed and the secondary sexual characteristics may be absent or retarded. There may be amenorrhoea in the female and azoospermia in the male. Nevertheless, as indicated above, hypophysial dwarfs may occasionally be fertile. The skeletal framework is smaller and more fragile than normal and epiphyseal closure tends to be delayed. The appetite may be small and the basal metabolic rate low. There is not the profound impairment of the central nervous system noted in cretins, nor does one see the myxoedematous infiltration of subcutaneous or submucous tissues present in juvenile myxoedema. The metabolic consequences of adrenal hypoplasia are much less conspicuous than in Addison's disease. Glucose tolerance is sometimes increased. Occasionally radiography may show a small sella turcica but this is not common; indeed the sella may be enlarged due to adenoma or craniopharyngioma. It has been suggested that the term ateleiosis might well be used for the generality of dwarfism until the true extent of hypopituitarism in the causation of these cases is established (Cecil and Loeb, 1955). For full consideration of types of dwarfism reference may be made to Wilkins (1950). Many of the points made above are confirmed and some further suggestions are put forward. Wilkins points out that androgen deficiency may be shown by low levels of 1 7-ketosteroids and by the relative absence of body hair. Often the testes and ovaries are immature and there is a low level of folliclestimulating hormone. The facies is childish and immature but with attainment of the fourth decade a peculiar 'oldish-young' look may appear due to atrophy and wrinkling of the skin. The pathology of this condition was first discussed by Erdheim (1916, 1925) who introduced the term