Congenital anorchism:clinical diagnoses and treatments of 3 cases
Objective To explore the clinical characteristics,diagnoses and treatments of congenital anorchism(CA)in childhood.Methods From May 2011 to February 2022,retrospective analyses were performed for the relevant clinical data of three hospitalized CA children undergoing laparoscopic intra-abdominal gonadal exploration plus testicular exploration in inguinal region.The operative ages were 37,21 and 46 months respectively.Peripheral blood karyotyping,sex hormone panel,serum anti-Mullerian hormone assay,inhibin B assay and human chorionic gonadotropin stimulation test were performed.Results Intraoperative exploration revealed no testicular tissue in abdominal cavity.Double internal ring orifices were closed.Bilateral spermatic vessels and vas deferens aligned normally and no testicular tissue was found in scrotum.The karotypes of 3 cases were 46,XY.The level of follicle stimulating hormone was 10.49,8.02 and 6.87 U/L respectively,all above a normal range.Another five sex hormones were within normal reference ranges.Anti-Müllerian tube hormone was 0.04 ng/ml and ΔT of human chorionic gonadotropin provocation test was＜1 ng/ml.And inhibin B was 11.1,10.8 and 12.3 ng/L respectively,all below a normal reference range.One child followed until an age of 14 years(case 1)had no significant difference in height,weight or penile development from normal children of the same age before puberty.At an age of 14 years,there was still had no development of secondary sexual characteristics and he was referred to an endocrine specialist.Another two children followed until 52 and 48 months(case 2/3)showed no difference in height or weight from counterparts of the same age.Both were regularly followed up at an outpatient clinic without any special intervention.Conclusions If no testes are found in bilateral scrotum and inguinal region on non-surgical examination,the diagnosis of CA should be considered.It should be differentiated from testicular hypoplasia and sex dysgenesis.An early definite diagnosis,appropriate endocrine therapy and surgery are essential for managing.
NETL
NSTL
万方数据
维普
