Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis
Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis
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DOI：
10.1210/jc.2018-02752
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发表时间：
2019-10-01
影响因子：
5.8
通讯作者：
Juul, Anders
中科院分区：
文献类型：
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作者：
Ljubicic, Marie Lindhardt;Jorgensen, Anne;Juul, Anders
背景：对患有45，X/46，XY嵌合体的男性的结果进行更大规模的研究是罕见的。目的：比较因出生时生殖器异常或以后生活中的非生殖器原因而被诊断为45，X/46，XY嵌合体的男性的健康结果。设计：一项回顾性的多中心研究。设置：16个三级中心。患者或其他参与者：63名13岁以上患有45，X/46，XY嵌合体的男性。主要观察指标：健康结果，如生殖器表型、性腺功能、生长、共病、生育力和性腺组织学，结果：生殖器组35例，非生殖器组28例。80%的患者经历了自发性青春期发作，非生殖器组明显更多(P=0.023)。生殖器组患者身高明显变矮，成人身高中位数分别为156.7 cm和164.5 cm(P=0.016)。27%的患者接受了重组人生长激素。对44例患者进行了性腺组织学检查。生殖细胞阳性率为42%。5例患者发现原位肿瘤。25%的人有局灶性精子生成，另有25.0%的人精子生成受阻。在精液分析的17例患者中，14例(82%)为无精子症，3例有活动精子。结论：生殖器异常导致的患者比非生殖器原因诊断的患者健康结局更差。然而，大多数患者的内分泌性腺功能相对较好，但大多数患者也很矮小。患者有性腺肿瘤的风险，而且大多数是无精子症，但几乎一半的患者在组织学上存在生殖细胞，多达四分之一的患者有局灶性生精，这为生育治疗方案提供了希望。
Context: Larger studies on outcomes in males with 45,X/46,XY mosaicism are rare.Objective: To compare health outcomes in males with 45,X/46,XY diagnosed as a result of either genital abnormalities at birth or nongenital reasons later in life.Design: A retrospective, multicenter study.Setting: Sixteen tertiary centers.Patients or Other Participants: Sixty-three males older than 13 years with 45,X/46,XY mosaicism.Main Outcome Measures: Health outcomes, such as genital phenotype, gonadal function, growth, comorbidities, fertility, and gonadal histology, including risk of neoplasia.Results: Thirty-five patients were in the genital group and 28 in the nongenital. Eighty percent of all patients experienced spontaneous pubertal onset, significantly more in the nongenital group (P = 0.023). Patients were significantly shorter in the genital group with median adult heights of 156.7 cm and 164.5 cm, respectively (P = 0.016). Twenty-seven percent of patients received recombinant human GH. Forty-four patients had gonadal histology evaluated. Germ cells were detected in 42%. Neoplasia in situ was found in five patients. Twenty-five percent had focal spermatogenesis, and another 25.0% had arrested spermatogenesis. Fourteen out of 17 (82%) with semen analyses were azoospermic; three had motile sperm.Conclusion: Patients diagnosed as a result of genital abnormalities have poorer health outcomes than those diagnosed as a result of nongenital reasons. Most patients, however, have relatively good endocrine gonadal function, but most are also short statured. Patients have a risk of gonadal neoplasia, and most are azoospermic, but almost one-half of patients has germ cells present histologically and up to one-quarter has focal spermatogenesis, providing hope for fertility treatment options.