CAJ | 학술논문

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.
목적 총결염색체핵형위45,X/46,XY혼합형성선발육불전환자적림상특점、치료방안급수방정황,이제고대차병적인식화진료수평.방법 대자2000년1월도2014년12월재해방군총의원주원치료급수방、경외주혈림파세포핵형학진위45,X/46,XY혼합형성선발육불전환자적림상표현、격소수평、치료화수방진행회고성총결.결과 (1)7례45,X/46,XY혼합형성선발육불전적환자,초진년령위12～17세.6례환자안녀성무양,1례안남성무양.(2)7례환자균신재왜소,생장발육지완,다반유신재왜소、면부다지등전형적특납체정.(3)외생식기표현다양,음경단소반뇨도하렬1례;음체비대사음경상1례,완전녀성형5례.안외생식기남성화평분1례환자위남성우세표형、1례림상표형불명、5례위녀성표형.(4)통과탐사수술화초성검사발현,2례환자존재고환,1례환자유란소양성선,4례환자미발현성선.(5)유5례환자접수중조인생장격소(rhGH)치료,환자신고균유현저증장,환자사용1년후신고증장최고체15 cm.유2례환자접수성격소체대치료,1례환자접수구복십일산고동치료,치료후유음경증대화발기,령외1례환자접수자잉격소체대치료,치료후출현철퇴성자궁출혈.결론 45,X/46,XY혼합형성선발육불전환자,구유전형적류특납림상특정.기외생식기표현다양,이성별표형불명형소점비례최고.치료응개체화가사용생장격소촉진신고증장、성격소촉진제이성정적발육급유지.
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.