45,X/46,XY Mosaicism: Phenotypic Characteristics, Growth, and Reproductive Function-A Retrospective Longitudinal Study
45,X/46,XY Mosaicism: Phenotypic Characteristics, Growth, and Reproductive Function-A Retrospective Longitudinal Study
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DOI：
10.1210/jc.2012-1388
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发表时间：
2012-08-01
影响因子：
5.8
通讯作者：
Juul, Anders
中科院分区：
文献类型：
--
作者：
Johansen, Marie Lindhardt;Hagen, Casper P.;Juul, Anders
背景：大多数先前关于 45,X/46,XY 嵌合体的研究都是病例报告或描述了该疾病的单一方面。目的：目的是提供 45,X/46,XY 嵌合体患者的纵向数据。设计：这是一项从 1990 年 6 月至 2012 年 1 月进行的回顾性纵向研究。背景：该研究在三级儿科和男科转诊中心进行。患者或其他参与者：纳入了 25 名患有 45、X/46、XY 嵌合体及其变异的患者（18 名男孩，7 名女孩），并与健康对照进行比较。干预措施：研究中未包括干预措施。主要结果指标：使用外部男性化评分对表型进行评分。报告了男性患者的血清 LH、FSH、睾酮、雌二醇和抑制素 B 水平。所有患者均报告了 IGF-I 水平和身高。对可用的活检/性腺切除术进行组织学检查。结果：18 名男性中有 14 名的外部男性化评分与正常男性化一致。 11 名男性患者中有 10 名经历了自发性青春期。男性的中位身高 SD 得分为 -2.0（范围为 -3 至 0.3），女性的中位身高 SD 得分为 -2.2（范围为 -2.5 至 -1.4），两者均远低于遗传潜力。 7 名患者接受 GH 治疗后 1 年身高增长中位数为 0.5 SD（0.1 至 1.2）。 15 名患者（8 名男性，7 名女性）的所有组织样本均显示性腺组织学异常。 4 名患者患有原位癌 (CIS)；两人有童年早期的组织样本，其中一人显示 CIS。结论：大多数 45、X/46、XY 男性的性腺功能，甚至是那些生殖器不明确的男性，似乎足以自发进入青春期。身材矮小和 45、X/46、XY 嵌合体似乎相关，但患者似乎从 GH 治疗中受益。两名儿童早期活检患者的组织学表明 CIS 起源于青春期之前。 （临床内分泌代谢杂志 97：E1540-E1549，2012 年）
Context: Most previous studies of 45,X/46,XY mosaicism are case reports or have described single aspects of the disease.Objective: The objective was to provide longitudinal data of patients with 45, X/46, XY mosaicism.Design: This was a retrospective, longitudinal study conducted from June 1990 to January 2012.Setting: The study took place at a tertiary pediatric and andrological referral center.Patients or Other Participants: Twenty-five patients (18 boys, seven girls) with 45, X/46, XY mosaicism and its variants were included and were compared to healthy controls.Intervention(s): No interventions were included in the study.Main Outcome Measure(s): Phenotypes were scored using external masculinization scores. Serum LH, FSH, testosterone, estradiol, and inhibin B levels were reported in male patients. IGF-I levels and height were reported in all patients. Available biopsies/gonadectomies were histologically examined.Results: Fourteen of 18 males had external masculinization scores consistent with normal virilization. Ten of 11 male patients experienced spontaneous puberty. Median height SD score was -2.0 (range, -3 to 0.3) for males and -2.2 (range, -2.5 to -1.4) for females, both considerably below genetic potential. Median 1-yr height gain after GH treatment in seven patients was 0.5 SD (0.1 to 1.2). All tissue samples from 15 patients (eight males, seven females) revealed abnormal gonadal histology. Four patients had carcinoma in situ (CIS); two had tissue samples available from early childhood, one showing CIS.Conclusions: Gonadal function in most 45, X/46, XY males, even those with genital ambiguity, seems sufficient for spontaneous puberty. Short stature and 45, X/46, XY mosaicism seem associated, but patients appear to benefit from GH treatment. Histology from two patients with biopsies from early childhood indicates that CIS originates before puberty. (J Clin Endocrinol Metab 97: E1540-E1549, 2012)