ABSTRACT
We performed an endocrinological study on three males with persistent pubertal macromastia. The blood testosterone (T) level in these patients was either elevated or at the upper normal limit, estrone (E1) and estradiol (E2) levels were high, and T/E1 and T/E2 ratios were decreased. Persistence of low T/E1 and T/E2 ratios was thought to be the cause of the macromastia. Results of therapy using drugs (cyproterone acetate, tamoxifen citrate, danazol, and clomiphene citrate) were unsatisfactory. Persistent pubertal macromastia is an extreme condition of physiological pubertal gynecomastia, a transient phenomenon in more than half of pubertal males. It is a pathological condition characterized by a great degree of breast enlargement and abnormal endocrinological findings, and its clinical course and treatment are different from those of physiological pubertal gynecomastia.
Subject(s)
Breast/pathology , Endocrine Glands/physiopathology , Puberty/physiology , Adolescent , Estrone/blood , Hormones/blood , Humans , Male , Testosterone/bloodABSTRACT
Generalized resistance to thyroid hormone (GRTH), or Refetoff syndrome, is a disease in which peripheral tissues show resistance to thyroid hormone. Three patients with this disease were investigated. Cases 1 and 2 involved identical 7-year-old female twins and case 3, a 5-year-old girl. All three patients had goiters, and cases 1 and 2 had sensorineural deafness. In all three, the blood levels of T4, free T4, and T3 were high, while the blood levels of TSH were normal or slightly elevated. The responses shown by blood levels of the thyroid hormone and TSH to administration of propylthiouracil and T3 suggest that the regulating mechanism in the hypothalamic-pituitary-thyroid system was functional. Upon administration of T3, no sign of hyperthyroidism was observed.
