完全性雄激素不敏感综合征1例及文献分析OA北大核心

Objective To explore the clinical features,diagnoses and therapeutic strategies of complete androgen insensitivity syndrome(CAIS)in children.Methods The relevant clinical data of a child with CAIS were retrospectively reviewed."Complete androgen insensitivity syndrome"was applied as a search term in PubMed,China National Knowledge Infrastructure(CNKI)and WANFANG DATA from January 2013 to Octo-ber 2023.Along with the relevant literature fulfilling the specified inclusion and exclusion criteria,general pro-files,clinical manifestations,treatment protocols and follow-up results of children diagnosed as CAIS were sum-marized.Results Upon admission,a 13-year-old girl with primary amenorrhea was identified based upon so-cial gender.A definite diagnosis of CAIS was confirmed through comprehensive clinical evaluations of symp-toms,physical examinations,color Doppler ultrasonography for body mass evaluation,sex hormone analysis and chromosome karyotypic analysis.Bilateral laparoscopic exploration and subsequent bilateral orchiectomy were performed for cryptorchidism.Pathological diagnosis was testicular tissue atrophy and absence of spermatogenic cells in seminiferous tubules.The child was discharged postoperatively.Subsequent follow-ups revealed bilateral breast hyperplasia and a decline of sex hormone level.To date,the child fared well.Here all of 11 CAIS cases were assigned female at birth.Diagnostic age ranged from 26 days to 17 years.Primary amenorrhea(n=5)and indirect inguinal hemia(n=5)were the predominant clinical manifestations.Most girls exhibited typical fe-male external genitalia.In 7 cases,vagina was imperforate while another case presented with a normal length and a narrow diameter.Karyotype analysis revealed 46,XY(n=10)and 47,XXY.ishYp11.3(SRY+)(n=1).There were relocating gonads in abdomen(n=1),rejection of surgical intervention(n=1)and gonadecto-my(n=9).Postoperative follow-ups revealed that 7 children recovered well and received hormone replacement therapy.The longest follow-up period was 20 years.One case developed breast hyperplasia while three cases were lost to follow-ups.Conclusions As a rare disease,CAIS usually presents as primary amenorrhea.Howev-er,it can often be misdiagnosed as an indirect inguinal hernia due to the presence of a mass in inguinal region before puberty.For girls presenting with either an indirect inguinal hernia or primary amenorrhea,clinicians should stay on a high alert for the possibility of CAIS.Differential diagnosis requires further imaging studies and chromosome karyotypic analysis while genetic testing is necessary for confirming a diagnosis.Surgical interven-tion should be performed as soon as possible.There is still some controversies regarding optimal timing of sur-gery.Gonadectomy should be performed during puberty or early adulthood for minimizing cancer risks and facili-tating normal pubertal development through hormone replacement.