OBJECTIVE: To investigate the clinical characteristics, steroid hormone profiles, and genetic variants in two female patients with Non-classic adrenal hyperplasia (NCAH). METHODS: Clinical data and samples were collected from two patients who had visited Huaian Maternal and Child Health Care Hospital Affiliated to Medical College of Yangzhou University on September 27, 2022 and June 25, 2023, respectively, with an initial diagnosis of Polycystic ovary syndrome (PCOS) and suspected NCAH. Seven steroid hormones in dried blood spots were analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Single base variants and repeat/deletions in the CYP21A2 gene were analyzed by using a classic congenital adrenal hyperplasia (CAH) gene assay, and 10 related genes were analyzed by third-generation sequencing (TGS) should the variants be unclear. This study has been approved by the Medical Ethics Committee of the hospital (Ethics No.: 2025003). RESULTS: Patient 1 was a 14-year-old girl, and patient 2 was a 23-year-old woman with insulin resistance. Both patients had hirsutism, acne, bilateral polycystic ovarian morphology, in addition with significantly elevated serum testosterone by chemiluminescence. The steroid hormone profiles of both patients suggested a significant increase in 17-hydroxyproesterone, normal cortisol and 11-deoxycortisol. Patient 2 additionally showed a significant rise in 21-deoxycortisol. The presentation of both patients was indicative of NCAH, which was also evidenced by their respective medical histories. Sanger sequencing of long fragment PCR amplification combined with multiplex ligation-dependent probe amplification (MLPA) revealed that patient 1 harbored a mild c.92C>T (p.P31L) variant and a severe variant with a large segmental deletion in CYP21A2. Patient 2 was finally confirmed by TGS to carry mild CYP21A2 variants in the 5' untranslated region (5' UTR) promotor region (c.-126C>T, c.-113G>A, c.-110T>C) and a severe c.293-13C/A>G variant. The promotor region variants had resulted in decompression of the long fragment P1X/P2 amplification, leading to homozygous result of Sanger sequencing for c.293-13C/A>G, which in turn halved the amplification signal for the wt-113 SNP probe. In addition, the wtI2G-A probe was enhanced by interference in the MLPA assay. CONCLUSION This study demonstrated that NCAH should be excluded when PCOS is accompanied by a significant increase in serum testosterone, that mass spectrometry of steroid hormone profiles containing 17-hydroxyprogesterone is useful for the detection of NCAH, and that TGS is advantageous in confirming the diagnosis of NCAH when compared with conventional genetic testing methods.
Humans ; Female ; Adrenal Hyperplasia, Congenital/blood* ; Adolescent ; Steroid 21-Hydroxylase/genetics* ; Young Adult ; Genetic Variation ; Adult

Objective To study the clinical effect of interventional therapy and cryosurgery by bronchoscopy in the treatment of bronchial tuberculosis.Methods 70 cases with bronchial tuberculosis were randomly divided into two groups 35 cases in each group.The drug treatment group was treated by internal medicine,and the combination therapy group was treated by the interventional therapy of the bronchus mirror on the basis of the drug treatment group.The total effective rate,the improvement time of cough and dyspnea,the number of treatment,the quality of life of patients were compared between the two groups.Results The total effective rate of the combination therapy group was higher than the drug treatment group (94.24％ vs 77.14％,x2 =4.200,P =0.04).The improvement time of cough and dyspnea in the comprehensive treatment group was shorter than those in the drug treatment group,the treatment times was less than that in the drug treatment group[comprehensive treatment group:(7.51 ± 1.41) d,(4.51 ± 1.61) d,(5.62 ± 1.21) times;drug treatment group:(9.39 ± 2.77) d,(5.39 ± 2.57) d,(7.61 ± 2.59) times;t =8.213,9.153,10.242,all P =0.00].Before treatment,the life quality scores between the two groups had no significant difference (P ＞ 0.05).After treatment,the improvement of quality of life in the combination therapy group was more significant[before treatment and after treatment of combination therapy group:physiological function:t =15.539,P ＜ 0.001;emotional function:t =11.789,P ＜ 0.001;social function:t =8.753,P ＜ 0.001.Before treatment and after treatment of drug treatment group:physiological function:t =10.128,P ＜ 0.001;emotional function:t =8.132,P ＜ 0.001;social function:t =6.931,P ＜ 0.001.After treatment,combination therapy group compared with drug treatment group:physiological function:t =7.433,P ＜ 0.001;emotional function:t =4.692,P ＜0.001;social function:t =3.297,P ＜ 0.001].Conclusion The clinical efficacy of bronchoscopic interventional cryotherapy in the treatment of bronchial tuberculosis is effective,it can effectively improve the clinical symptoms,improve lesions absorption,shorten symptoms subsided time,reduce the number of treatment,it is helpful to improve the quality of life of patients and worthy of popularization and application.