López Krabbe Hans Valdemar, Holm Petersen Jørgen, Asserhøj Louise Laub, Johannsen Trine Holm, Christiansen Peter, Jensen Rikke Beck, Cleemann Line Hartvig, Hagen Casper P, Priskorn Lærke, Jørgensen Niels, Main Katharina M, Juul Anders, Aksglaede Lise
Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Endocr Connect. 2023 Jun 12;12(7). doi: 10.1530/EC-23-0031. Print 2023 Jul 1.
Adult patients with Klinefelter syndrome (KS) are characterized by a highly variable phenotype, including tall stature, obesity, and hypergonadotropic hypogonadism, as well as an increased risk of developing insulin resistance, metabolic syndrome, and osteoporosis. Most adults need testosterone replacement therapy (TRT), whereas the use of TRT during puberty has been debated. In this retrospective, observational study, reproductive hormones and whole-body dual-energy x-ray absorptiometry-derived body composition and bone mineral content were standardized to age-related standard deviation scores in 62 patients with KS aged 5.9-20.6 years. Serum concentrations of total testosterone and inhibin B were low, whereas luteinizing hormone and follicle-stimulating hormone were high in patients before TRT. Despite normal body mass index, body fat percentage and the ratio between android fat percentage and gynoid fat percentage were significantly higher in the entire group irrespective of treatment status. In patients evaluated before and during TRT, a tendency toward a more beneficial body composition with a significant reduction in the ratio between android fat percentage and gynoid fat percentage during TRT was found. Bone mineral content (BMC) did not differ from the reference, but BMC corrected for bone area was significantly lower when compared to the reference. This study confirms that patients with KS have an unfavorable body composition and an impaired bone mineral status already during childhood and adolescence. Systematic studies are needed to evaluate whether TRT during puberty will improve these parameters.
克氏综合征（KS）成年患者具有高度可变的表型特征，包括身材高大、肥胖和高促性腺激素性性腺功能减退，以及发生胰岛素抵抗、代谢综合征和骨质疏松症的风险增加。大多数成年人需要睾酮替代疗法（TRT），而青春期使用TRT一直存在争议。在这项回顾性观察研究中，对62例年龄在5.9至20.6岁之间的KS患者，将生殖激素以及全身双能X线吸收法测定的身体成分和骨矿物质含量标准化为年龄相关标准差分数。TRT治疗前患者血清总睾酮和抑制素B浓度较低，而黄体生成素和卵泡刺激素浓度较高。尽管体重指数正常，但无论治疗状态如何，整个组的体脂百分比以及男性型脂肪百分比与女性型脂肪百分比之比均显著更高。在TRT治疗前和治疗期间接受评估的患者中，发现TRT治疗期间身体成分有更有益的趋势，男性型脂肪百分比与女性型脂肪百分比之比显著降低。骨矿物质含量（BMC）与参考值无差异，但与参考值相比，校正骨面积后的BMC显著更低。本研究证实，KS患者在儿童期和青春期就已存在不良的身体成分和受损的骨矿物质状态。需要进行系统研究以评估青春期TRT是否会改善这些参数。
