RÉSUMÉ
Objective To assess the clinical diagnosis and treatment of 21-hydroxylase deficiency nonclassic congenital adrenal hyperplasia (NCCAH) complicated by testicular adrenal rest tumors (TART),thus to improve the recognition of the disease.Methods The clinical data of one patient of NCCAH with TART from our department in 2016 were retrospectively studied,and were analyzed combined with related literature,and the diagnosis was established for treatment.Results The patient was a 17 years old boy.At the age of seven began to appear the pubic hair,voice and other secondary sexual performance.More than their big penis development was significantly higher than their peers.At the age of 12 found bilateral testicular gradually enlarged and attendance.Physical examination:bilateral testicular swelling and a sense of nodules,hard texture,epididymis,normal bilateral varicocele.Laboratory exam indications showed increased levels of progesterone(P),adrenocorticotropic hormone(ACTH),17 hydroxyprogesterone(17α-OHP),aaldosterone(ALD),17-hydroxyl corticosteroids(17-OHCS),17-ketone corticosteroids(17-KS).By the ACTH stimulating test,17α-OHP was increased.Bilateral testes MRI:irregular bilateral testes,signal,see in space.Enhanced scan lesions uniform reinforcement,germ cell tumors to row.Adrenal CT:bilateral adrenal hyperplasia.Testicular biopsy:testicular adrenal genital syndrome tumor.Genetic testing:CYP21A2 heterozygous mutations.The above test results were diagnosed of NCCAH 21-OHD with TART.The patient was orally given 10mg/d prednisone 2 time.3 months after treatment,the 17α-OHP,CO and sex hormones returned to normal.Review the adrenal CT showed significant bilateral adrenal shrink,Pa/testis tubercle was narrow,but not obvious.Semen routine still suggested no sperm,considering the TART medical treatment effect was poor.Hence,further line tumor removed,followed up for 3 months without tumor recurrence at present.Conclusion NCCAH complex and varied clinical manifestations and hidden.Not easy to be noticed by patients and clinicians.For the early childhood in pubic hair growth accelerated leading to premature epiphyseal fusion and make the adult height is short stature consideration should be given to the disease.Further lines of sex hormones,adrenal related endocrine examination,genetic testing and ACTH stimulating test,etc.If concurrent bilateral testicular nodules,should consider to merge TART may.Testicular biopsy can be clear.Treatment can choose according to TART classification of glucocorticoid (a hormone steroid) or surgical treatment,concrete scheme should be individualized.
RÉSUMÉ
Objective To assess the clinical efficacy of ultrasonography guidance percutaneous nephrolithot-omyⅠ period combining pneumatic ultrasosonic and holmium laser lithotrips of complex renal calculi.Methods Patients were under the general anesthesia in lithotomy position.By cystoscope first to one side retrograde insertion F5 ureteral catheter,the position to prone position was changed.Under ultrasonography guidance puncture target after the success of the calyx,fascia dilator gradually expanded from F8 to F20 channel was established.Then percutaneous nephroscope combining pneumatic ultrasosonic and holmium laser lithotripsy were administrated.Results One sided single channel was 92 cases,one sided dual channel was 11 cases,one sided three -channel was 1 case.On both sides single channel was 13 cases,one side of the dual channel and other side of the single channel was 3 cases.The operation time was (72 ±24)min.Intraoperative bleeding was in 50 -150mL,with an average of 80mL,and there's no intraoper-ative blood transfusion.2 cases of postoperative had secondary bleeding,in which 1 case remitted after non -operative treatment,the other case was treated in DSA downward super selective renal artery embolization to stop the bleeding. Postoperative hospital stay was 7 -14d,with an average of 10d.There were no septic shock,water uptake,water intoxi-cationand complications such as pleural effusion.One week after the CT,stones free rate was 91.7%(110 /120),in which 10 cases of residual stone with diameter <5mm,needn't surgery removed again.They were treated with oral platoon stone drugs,drinking lots of water and a moderate amount of sports such as processing.All cases were followed up for 6 months to 18 months,with no urinary tract infection,stone recurrence and the long -term complications such as perinephric space effusion.Conclusion As long as establish proper percutaneous renal channel,with intraoperative operating norms,combining pneumatic ultrasosonic and holmium laser,ultrasonography guidance percutaneous nephro-lithotomy Ⅰ period clear renal calculi is completely can be done.And it can shorten operation time,and has clear renal calculi with high efficiency,small trauma and less long -term complications.It is safe and effective,and worthy of clinical popularization and application.