45,X/46,XY混合型性腺发育不全患者的诊治及随访  

The diagnosis, treatment and following up of 7 patients with 45, X/46, XY mixed gonadal dysgenesis

作　　者：陈光[1] 窦京涛[1] 杨国庆[1] 谷伟军[1] 杜锦[1] 陈康[1] 臧丽[1] 金楠[1] 王先令[1] 杨丽娟[1] 吕朝晖[1] 巴建明[1] 陆菊明[1] 李江源[1] 潘长玉[1] 母义明[1] 

机构地区：[1]解放军总医院内分泌科全军内分泌代谢重点实验室,北京100853

出　　处：《中华内科杂志》2015年第11期954-958,共5页Chinese Journal of Internal Medicine

摘　　要：目的 总结染色体核型为45,X/46,XY混合型性腺发育不全患者的临床特点、治疗方案及随访情况,以提高对此病的认识和诊疗水平.方法 对自2000年1月到2014年12月在解放军总医院住院治疗及随访、经外周血淋巴细胞核型确诊为45,X/46,XY混合型性腺发育不全患者的临床表现、激素水平、治疗和随访进行回顾性总结.结果 （1）7例45,X/46,XY混合型性腺发育不全的患者,初诊年龄为12～17岁.6例患者按女性抚养,1例按男性抚养.（2）7例患者均身材矮小,生长发育迟缓,多伴有身材矮小、面部多痣等典型的特纳体征.（3）外生殖器表现多样,阴茎短小伴尿道下裂1例;阴蒂肥大似阴茎状1例,完全女性型5例.按外生殖器男性化评分1例患者为男性优势表型、1例临床表型不明、5例为女性表型.（4）通过探查手术和超声检查发现,2例患者存在睾丸,1例患者有卵巢样性腺,4例患者未发现性腺.（5）有5例患者接受重组人生长激素（rhGH）治疗,患者身高均有显著增长,患者使用1年后身高增长最高达15 cm.有2例患者接受性激素替代治疗,1例患者接受口服十一酸睾酮治疗,治疗后有阴茎增大和勃起,另外1例患者接受雌孕激素替代治疗,治疗后出现撤退性子宫出血.结论 45,X/46,XY混合型性腺发育不全患者,具有典型的类特纳临床特征.其外生殖器表现多样,以性别表型不明型所占比例最高.治疗应个体化可使用生长激素促进身高增长、性激素促进第二性征的发育及维持.Objective To investigate the clinical features, therapeutic regimens and follow-up information of patients with 45, X/46, XY mixed gonadal dysgenesis in order to improve the diagnosis and treatment of the disease.Methods We performed a retrospective review of patients with 45, X/46, XY mosaicism hospitalized in Chinese PLA General Hospital between 2000 and 2014.The clinical features, sex hormones,treatment and follow-up information were summarized.Results （1） Seven patients ranging 12-17 years old were diagnosed as having 45, X/46, XY mixed gonadal dysgenesis.Six of them had female sex of rearing and one had male.（2） All of them presented with short stature and growth retardation, and had similar specific somatic signs to Turner syndrome.（3） The external genitalia presented with a wide variety of phenotypes.One patient presented with male phenotype with hypospadia, one presented with clitoridauxe, and five presented with female phenotype.The masculinization scores for the external genitalia showed that five patients presented with female phenotype, one patient with mild undervirilization and one patient with ambiguous genitalia.（4） By surgical exploration and ultrasound, two patients were found with testes and one was with ovary-like gonads.No gonad could be detected in the other four patients.（5） Five patients were treated with recombinant human growth hormone （rhGH）.Two patients received sex hormone replacement therapy with one patient taking testosterone, whose penis became enlarged and erect after treatment, and one taking artificial cycle.Conclusions The patients with 45, X/46, XY mosaicism share similar specific somatic signs to Turner syndrome.The 45, X/46, XY mosaicism presents with a wide spectrum of phenotypes with the highest proportion of being genital ambiguity.RhGH, testosterone and artificial cycle can be used accordingly.

关 键 词：腺发育不全 混合性 诊断 治疗 

分 类 号：R588[医药卫生—内分泌]