title: Endocrine abnormalities and myopathy in Bloom's syndrome.
abstract: 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.
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood* / Q000235:genetics; D000293:Adolescent; D005640:Follicle Stimulating Hormone / Q000097:blood; D006130:Growth Disorders / Q000097:blood* / Q000235:genetics; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009132:Muscles / Q000648:ultrastructure; D010908:Pituitary Hormones, Anterior / Q000097:blood*; D012519:Sarcoplasmic Reticulum / Q000648:ultrastructure; D013577:Syndrome; D013684:Telangiectasis / Q000097:blood* / Q000235:genetics; D013972:Thyrotropin / Q000097:blood
chemical_list: D010908:Pituitary Hormones, Anterior; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013972:Thyrotropin; D013006:Growth Hormone