Kaufmann S, Jones M, Culler F L, Jones K L
Am J Med Genet. 1986 Apr;23(4):861-8. doi: 10.1002/ajmg.1320230403.
We describe the first proven occurrence of growth hormone deficiency in an individual with the Rothmund-Thomson syndrome. This was suspected because of the patient's severely retarded growth and bone age and her failure to respond normally to growth hormone stimulation testing with l-DOPA, arginine, and growth hormone releasing factor. In addition, we have briefly reviewed other genetic and malformation syndromes that have been found associated with growth hormone deficiency. We recommend that growth hormone deficiency be considered in these syndromes, especially when the growth failure is more marked than expected.
我们描述了第一例经证实患有生长激素缺乏症的罗思蒙德-汤姆森综合征患者。由于该患者生长严重迟缓、骨龄落后，且对左旋多巴、精氨酸和生长激素释放因子的生长激素刺激试验无正常反应，故怀疑其患有生长激素缺乏症。此外，我们简要回顾了已发现的与生长激素缺乏症相关的其他遗传和畸形综合征。我们建议在这些综合征中考虑生长激素缺乏症，尤其是当生长发育迟缓比预期更明显时。
