Clinical diagnosis and treatment of 21-hydroxylase deficiency nonclassic congenital adrenal hyperplasia complicated by testicular adrenal rest tumors(one-case report)
10.3760/cma.j.issn.1008-6706.2017.13.021
- VernacularTitle:21-羟化酶缺乏症非经典型先天性肾上腺皮质增生伴睾丸肾上腺残余肿瘤的临床诊治(附一例报告)
- Author:
Wei LI
;
Hongfeng SHEN
;
Tao LI
;
Geng HE
;
Yi DONG
;
Wei HUANG
;
Chongfeng WANG
;
Zhenchang QIN
;
Shikuan CHEN
- Keywords:
21-hydroxylase deficiency;
Adrenal cortex diseases;
Testicular adrenal rest tumors
- From:
Chinese Journal of Primary Medicine and Pharmacy
2017;24(13):1998-2004
- CountryChina
- Language:Chinese
-
Abstract:
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.
