Abstract
Three siblings (15 6/12 to 17 6/12 yrs.) with the Rothmund-Thomson Syndrome showed the following characteristic features: low birth weight for gestation, severe growth failure (present height: 110–113 cm), mental retardation, alopecia, hypoplastic nails, absent sexual development with cryptorchidism in the males, microdontia and anodontia, aphakia, decreased sweating, and congential poikiloderma, Routine studies were normal. Radiographs revealed delayed bone age in the males, complete epiphyseal fusion in the female, and generalized skeletal abnormalities. Endocrine studies revealed normal glucose responses with hyperinsulinemia to oral glucose, I.V, tolbutamide, and arginine. All had normal serum TSH, thyroxine and serum cortisol levels. Serum growth hormone (hGH) responses were variable but each subject showed at least one value over 10 ng/ml to argine (0.5 gm/kg) or insulin (0.10 u/kg) with insulin insensitivity, Serum hGH response to L-DOPA (0.5 gm p.o.) were all less than 6 ng/ml. Basal serum LH, FSH and testosterone were decreased and LH-RH (100 ug S.C.) did not produce a significant rise in serum LH or FSH in any of the subjects. The patients were treated with testosterone 10 mg/day, hGH 15 units/week or estradiol 50 μg/day respectively, for 6 months, with no clinical benefit. These studies suggest normal pituitary function for TSH, ACTH, and hGH, but the absent LH/FSH response to LH-RH with low basal levels suggest diminished pituitary gonadotropin reserve.
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Guyda, H., MacLeod, P. & Colle, E. ENDOCRINE ASPECTS OF THE ROTHMUND-THOMSON SYNDROME. Pediatr Res 9, 689 (1975). https://doi.org/10.1203/00006450-197508000-00131
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DOI: https://doi.org/10.1203/00006450-197508000-00131