Mikosch P, Gallowitsch H J, Kresnik E, Lind P
Abteilung für Nuklearmedizin und Endokrinologie des Landeskrankenhauses Klagenfurt.
Wien Med Wochenschr. 2000;150(12):262-5.
We report a rare case of Turner's syndrome (UTS) due to a gonosomal mosaic 45,X0/46,XY with the main clinical feature of several fractures in the course of osteoporosis. The bone mineral density (BMD) of the lumbar spine and the hip measured by DXA showed osteoporosis. The other clinical investigations including laboratory parameters presented beside an estrogen deficiency due to primary amenorrhea, a small thyroid with hypothyroidism, increased renal calciuria and increased markers of bone metabolism. Beside the supplementation of estrogen and thyroid hormone deficits, only a combination of different bone-associated drugs could normalize the bone mineral density and the bone turnover. During a two years' follow-up period no further fractures occurred. Furthermore, theories regarding the occurrence of osteoporosis and other complex pathologies in UTS are discussed with the conclusion that osteopenia in UTS is probably based on a multifactorial genesis. Due to these complex pathologies during adulthood, patients with UTS should get multidisciplinary care in order to reduce morbidity and preserve quality of life.
我们报告了一例罕见的特纳综合征（UTS），其核型为染色体镶嵌45,X0/46,XY，主要临床特征是在骨质疏松过程中发生多处骨折。通过双能X线吸收法（DXA）测量的腰椎和髋部骨密度显示为骨质疏松。其他临床检查，包括实验室指标，除了因原发性闭经导致的雌激素缺乏、甲状腺小且功能减退、肾钙尿增加以及骨代谢标志物升高外，无其他异常。除了补充雌激素和甲状腺激素缺乏外，只有联合使用不同的骨相关药物才能使骨密度和骨转换正常化。在两年的随访期内未再发生骨折。此外，还讨论了关于UTS中骨质疏松和其他复杂病理发生的理论，得出的结论是UTS中的骨质减少可能基于多因素成因。由于成年期存在这些复杂病理情况，UTS患者应接受多学科护理，以降低发病率并维持生活质量。
