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特纳综合征患者的盆腔超声检查:不同核型的年龄相关表现

Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes.

作者信息

Mazzanti L, Cacciari E, Bergamaschi R, Tassinari D, Magnani C, Perri A, Scarano E, Pluchinotta V

机构信息

Department of Pediatrics, University of Bologna, Italy.

出版信息

J Pediatr. 1997 Jul;131(1 Pt 1):135-40. doi: 10.1016/s0022-3476(97)70137-9.

Abstract

Real-time ultrasonography was performed in 142 patients with Turner syndrome, aged 0.57 to 21 years, with different karyotypes (45,X [4896], X mosaicism [17%], and X structural abnormalities [35%]). Ovarian and uterine volumes were calculated and the data collected in a mixed longitudinal and cross-sectional mode. Thirty-eight patients were followed longitudinally during pubertal age (10 to 18 years bone age) for ovarian data. Patients with Turner syndrome were divided into two groups according to the presence or absence of detectable ovaries. Patients with Turner syndrome with detectable ovaries showed the first increase in ovarian volume at about 9 years of bone age; this increase was continuous and more evident only after 14 years of age and appeared later than in control subjects. When followed longitudinally during puberty, the ovaries showed a hormonal function in some cases. Girls with X mosaicism had the highest percentage of bilateral detectable ovaries and the greatest total ovarian volume; about 50% of them had spontaneous breast appearance and 38.5% had spontaneous menarche. They showed also the lowest gonadotropin levels, when bilateral ovaries were present during puberty. On the contrary, patients with the 45,X karyotype had the lowest percentage of detectable ovaries, ovarian volume, and spontaneous breast appearance. In our patients with Turner syndrome, uterine measures increased significantly with age and this was more evident in subjects with detectable ovaries after 13 years of bone age. Compared with control subjects, they showed significantly lower uterine measures, and patients with X mosaicism had greater and more progressive increments. In conclusion, pelvic ultrasonography in Turner syndrome is particularly useful in detecting ovaries and their possible increase in volume. These data, linked with karyotype pattern and gonadotropin levels, have prognostic value in predicting the future sexual development of these patients.

摘要

对142例年龄在0.57至21岁之间、具有不同核型(45,X[4896]、X染色体嵌合体[17%]和X染色体结构异常[35%])的特纳综合征患者进行了实时超声检查。计算了卵巢和子宫体积,并以纵向和横断面混合模式收集数据。38例患者在青春期(骨龄10至18岁)接受了纵向随访以获取卵巢数据。根据是否能检测到卵巢,将特纳综合征患者分为两组。能检测到卵巢的特纳综合征患者在骨龄约9岁时卵巢体积首次增加;这种增加是持续的,且仅在14岁以后更为明显,且出现时间晚于对照组。在青春期进行纵向随访时,部分患者的卵巢显示出激素功能。具有X染色体嵌合体的女孩双侧可检测到卵巢的比例最高,卵巢总体积最大;其中约50%有自发乳房发育,38.5%有自发月经初潮。在青春期双侧卵巢存在时,她们的促性腺激素水平也最低。相反,具有45,X核型的患者可检测到卵巢的比例、卵巢体积和自发乳房发育的比例最低。在我们的特纳综合征患者中,子宫测量值随年龄显著增加,在骨龄13岁后能检测到卵巢的患者中更为明显。与对照组相比,她们的子宫测量值显著较低,而具有X染色体嵌合体的患者子宫测量值增加更大且更具进展性。总之,特纳综合征患者的盆腔超声检查在检测卵巢及其可能的体积增加方面特别有用。这些数据与核型模式和促性腺激素水平相关,对预测这些患者未来的性发育具有预后价值。

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