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SUMMARY Abnormal endocrine indices and myopathy have been variably present in two brothers with Bloom's syndrome (congenital teleangiectatic erythema, hypersensitivity to light, and growth retardation). These consisted of: (1) growth retardation with height and weight below the third centiles; in the younger one at age 14, hypoglycaemia failed to elicit a rise in growth hormone but did so in the older one at age 17; (2) serum TSH was raised in the older one in whom serum FSH and LH were also above the normal range; and (3) myopathy characterised by pronounced dilatation of the sarcoplasmic reticulum was present in the younger one; distinct reduction of muscle strength was shown in his older brother with ultrastructural alteration of skeletal muscle of unknown significance.Bloom's syndrome (Bloom, 1954a, b;Szalay, 1963;Bloom, 1966;Sawitsky et al., 1966;Schoen and Shearn, 1967;German, 1969German, , 1972German, , 1974) is an autosomal recessive inheritable disorder characterised by teleangiectasia, hypersensitivity to sunlight, growth retardation in utero and thereafter, and chromosomal aberrations with quadriradial (Qr) forms. More than one-half of cases have appeared in Ashkenazik Jews as well as in offspring of consanguineous unions (Bloom, 1954a;German, 1974 These findings suggest that endocrinopathy may develop with increasing age in these patients. In addition, muscle weakness was present in one of the two brothers, with pronounced dilatation of the sarcoplasmic reticulum in the other. Clinical findingsThe history of these two brothers at the age of 4 years and 7 years, respectively, has been previously reported by Bloom (1954a). Subsequent to that publication, the younger patient (LS), now age 16 years, has failed to grow at a normal rate and has been found to have an IQ of less than 90. He experienced frequent respiratory infections including two episodes of pneumonia and has taken prophylactic antibiotics for infections.The older brother (CS), now age 18 years and 11 months, also failed to grow normally and has a 'dullnormal' IQ. He failed three school grades. He also had respiratory infections, though less frequent and less severe than those of his brother. He suffered from severe photophobia.Physical examination showed that both were below the third centile for height and weight. Both had facial telangiectasia and desquamation, moderate in the younger and more severe involving all of the face in the older one. The lips were dry and desquamating in each. Partial syndactyly was present in the second and third toes of both feet in the two patients. The

In an adult with a virilizing adrenocortical adenoma and in six similar published instances, the high levels of urinary 17-ketosteroids usually present were associated with normal excretion of 17(OH)corticosteroids or Porter-Silber chromogens. Urinary estrogens were high in 1 of 3 patients. In 5 of 9 adult patients assembled from the literature virilization in association with an adrenal cancer was characterized by increased levels of urinary 17(OH)corticosteroids; also, urinary estrogens were high in each of the 4 patients in whom they were measured. The above data point to a variety of enzyme patterns of steroidogenesis in association with virilizing adrenal tumors in adults. Thus, in those with an adenoma, desmolase activity is increased with high androgen production from 17(OH)steroids and normal or high estrogen formation from androgens without an increase in 17(OH)corticosteroid excretion. In those with an adrenal cancer, 17(OH)corticosteroid output is increased in about one half, androgen synthesis is of course always high, and, judging from the cases cited, estrogen production is invariably high. The basal levels of urinary 17-ketosteroids appear to be of no aid in the identification of virilization in adults due to an adrenal adenoma and that resulting from an adrenal cancer. The data indicate that cancer is more likely if in addition to high urinary 17-ketosteroids, the levels of 17(OH)corticosteroids and of estrogens are abnormally elevated in urine.