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 observe the clinical efficacy of electroacupuncture (EA) at "four points of sacral region" for mild-to-moderate benign prostatic hyperplasia (BPH) with lower urinary tract symptoms (LUTS). METHODS: A total of 58 patients with BPH/LUTS were randomly divided into a sacral four-point EA group (29 cases, 1 case dropped out) and a conventional EA group (29 cases, 1 case dropped out). EA was applied at bilateral points 0.5 cun lateral to the sacrococcygeal joint and Huiyang (BL35) in the sacral four-point EA group; and was applied at Guanyuan (CV4), Zhongji (CV3), Qugu (CV2) and bilateral Shuidao (ST28), Sanyinjiao (SP6), Zusanli (ST36) in the conventional EA group. Both groups received continuous wave, 2 Hz in frequency, 30 min a time, once every other day, 3 times a week for 4 weeks. Before treatment, after 2 and 4 weeks of treatment, and in follow-up of 1 month after treatment completion, the international prostate symptom score (IPSS), the overactive bladder symptom score (OABSS), the quality of life (QOL) score were observed; before and after treatment, the prostate volume (PV) was measured by abdominal ultrasound; and the clinical efficacy was evaluated after treatment in the two groups. RESULTS: Compared before treatment, the scores of IPSS, OABSS and QOL were decreased after 4 weeks of treatment and in follow-up in both groups (P<0.01, P<0.05). In the sacral four-point EA group, the scores of IPSS and QOL after 4 weeks of treatment and in follow-up were lower than those in the conventional EA group (P<0.05, P<0.01), and the OABSS score in follow-up was lower than that in the conventional EA group (P<0.05). After 4 weeks of treatment and in follow-up, the reductions of IPSS and OABSS scores compared before treatment in the sacral four-point EA group were larger than those in the conventional EA group (P<0.01, P<0.05); After 2, 4 weeks of treatment and in follow-up, the reductions of QOL score compared before treatment in the sacral four-point EA group were larger than those in the conventional EA group (P<0.01). No significant difference in PV was observed after treatment between the two groups (P>0.05). The total effective rate was 75.0% (21/28) in the sacral four-point EA group, which was higher than 39.3% (11/28) in the conventional EA group (P<0.01). CONCLUSION EA at "four points of sacral region" can effectively improve the LUTS, overactive bladder symptom and quality of life in patients with mild-to-moderate BPH, and has good short-term and long-term efficacy, although it can not reduce prostate volume.
Humans ; Male ; Electroacupuncture ; Prostatic Hyperplasia/complications* ; Aged ; Middle Aged ; Lower Urinary Tract Symptoms/physiopathology* ; Acupuncture Points ; Treatment Outcome ; Quality of Life

OBJECTIVES: To study the clinical and genetic characteristics of children with congenital adrenal hyperplasia (CAH). METHODS: Clinical data, laboratory findings, and genetic test results of 63 children diagnosed with CAH at Henan Children's Hospital from January 2017 to December 2024 were retrospectively reviewed. RESULTS: Of the 63 patients, the mean age at the first visit was (21 ± 14) days; 29 (46%) were of male sex and 34 (54%) were of female sex. The predominant clinical manifestations were poor weight gain or weight loss (92%, 58/63), poor feeding (84%, 53/63), skin hyperpigmentation (83%, 52/63), and female external genital anomalies (100%, 34/34). Laboratory abnormalities included hyponatremia (87%, 55/63), hyperkalemia (68%, 43/63), metabolic acidosis (68%, 43/63), and markedly elevated 17-hydroxyprogesterone (92%, 58/63), testosterone (89%, 56/63), and adrenocorticotropic hormone (81%, 51/63). Among 49 patients who underwent genetic testing, CYP21A2 variants were identified in 90% (44/49), with c.293-13A/C>G (33%, 30/91) and large deletions/gene conversions (29%, 26/91) being the most frequent; STAR (8%, 4/49) and HSD3B2 (2%, 1/49) variants were also detected. Following hormone replacement therapy, electrolyte disturbances were corrected in 57 cases, with significant reductions in 17-hydroxyprogesterone, adrenocorticotropic hormone, and testosterone levels (P<0.001). CONCLUSIONS CAH presenting in neonates or young infants is characterized by electrolyte imbalance, external genital anomalies, and abnormal hormone levels. Genetic testing enables definitive subtype classification; in CYP21A2-related CAH, c.293-13A/C>G is a hotspot variant. These findings underscore the clinical value of genetic testing for early diagnosis and genetic counseling in CAH. Citation:Chinese Journal of Contemporary Pediatrics, 2025, 27(11): 1367-1372.
Humans ; Adrenal Hyperplasia, Congenital/diagnosis* ; Male ; Female ; Retrospective Studies ; Infant ; Infant, Newborn

OBJECTIVE: The relationship between benign prostatic hyperplasia (BPH) and the oxidative balance score (OBS) will be discussed in this study. METHODS: The clinical data on 16 dimensions of diet and 4 dimensions of lifestyle from the National Health and Nutrition Examination Survey (NHANES) from 2001 to 2008 were used to calculate OBS. We considered BPH as the outcome and investigated the linear and nonlinear relationships between the two. Additionally, subgroup analyses and interaction tests were conducted as well. Furthermore, the methods of machine learning including XGBoost, support vector machine (SVM) and naive Bayes (NB) were used to establish a predictive model for BPH. RESULTS: Higher OBS was consistently associated with an increased prevalence of BPH, with Restricted Cubic Splines highlighting a significant positive nonlinear association (P=0.015). Subgroup analyses revealed differences and interactive relationships based on alcohol consumption. Among the seven machine learning models that we included the OBS score in, the XGBoost model emerged as the best, with an AUC value of 0.769. CONCLUSION There is a significant association between OBS and the prevalence of BPH in the American population, which provides a valuable insight for further diagnosis and research of the disease.
Humans ; Male ; Prostatic Hyperplasia/epidemiology* ; Machine Learning ; Bayes Theorem ; Nutrition Surveys ; Support Vector Machine ; Life Style ; Oxidative Stress ; Aged ; Diet ; Prevalence

OBJECTIVE: To investigate the effect of inverted-Y urethral function-preserving holmium laser enucleation of the prostate (HoLEP) on stress urinary incontinence after surgery in patients with BPH. METHODS: We retrospectively analyzed the clinical data on 109 cases of BPH treated in our hospital from June 2022 to May 2023 by traditional HoLEP with preservation of the apical prostatic urethral valve (group A, n = 52) or inverted-Y urethral function-preserving HoLEP (group B, n = 57). We recorded the intra- and post-operative parameters, evaluated the urinary incontinence status and post-void symptoms according to the International Continence Society standards, and analyzed the effect of inverted-Y versus traditional HoLEP in improving the postoperative urinary incontinence of the patients. RESULTS: The incidence rate of stress urinary incontinence after catheter removal was significantly lower in group B than in A (10.52% vs 26.92%, P = 0.027), and so was it at 2 weeks after surgery (1.75% vs 11.54%, P = 0.037), and at 1 month postoperatively (0% vs 7.69%, P = 0.033). CONCLUSION For the treatment of BPH, inverted-Y urethral function-preserving HoLEP is superior to traditional HoLEP with preservation of the apical prostatic urethral valve in improving stress urinary incontinence after surgery.
Humans ; Male ; Retrospective Studies ; Lasers, Solid-State/therapeutic use* ; Prostatic Hyperplasia/surgery* ; Urethra/surgery* ; Postoperative Complications/prevention & control* ; Urinary Incontinence, Stress/etiology* ; Prostatectomy/adverse effects* ; Aged ; Urinary Incontinence ; Prostate/surgery*

OBJECTIVE: The aim of this study is to investigate the independent risk factors of benign prostatic hyperplasia (BPH) complicated with bladder stones, and construct a nomogram prediction model for clinical progression of bladder stones in patients with BPH. METHODS: The clinical data of 368 BPH patients who underwent transurethral resection of the prostate in the Second Affiliated Hospital of Zhengzhou University from January 2018 to January 2021 were retrospectively analyzed. Patients with BPH were divided into group 1 (with bladder stones, n=94) and group 2 (without bladder stones, n=274). Univariate and multivariate logistic regression analyses were performed to determine the independent risk factors of bladder stones in patients with BPH. A nomogram model was developed, and the areas under the ROC curve and calibration curve were calculated to assess the accuracy of clinical application. RESULTS: Logistic analysis showed that age (HR:1.075,95%CI:1.032 to 1.120), hypertension (HR:2.801,95%CI:1.520 to 5.161), blood uric acid (HR:1.006,95%CI:1.002 to 1.010), intravesical prostatic protrusion (HR:1.189,95%CI1.119 to 1.264）, prostatic urethral angel（HR:1.127,95%CI:1.078to 1.178）were independent risk factors for bladder stones in patients with BPH. The discrimination of the nomogram model based on independent risk factors to predict the occurrence of bladder stones in patients with BPH was 0.874. CONCLUSION The nomogram model can predict the risk of bladder stones in BPH patients with good differentiation and calibration, which is a good guide for clinical work on BPH patients with high risk of bladder stones.
Humans ; Male ; Prostatic Hyperplasia/complications* ; Nomograms ; Urinary Bladder Calculi/etiology* ; Retrospective Studies ; Risk Factors ; Aged ; Logistic Models ; Middle Aged ; ROC Curve ; Transurethral Resection of Prostate

OBJECTIVE: To explore the clinical application of transurethral steam thermal ablation of the prostate as an ultra-minimally invasive treatment of benign prostatic hyperplasia (BPH). METHODS: We treated 18 BPH patients by transurethral steam thermal ablation of the prostate in our hospital, and followed them up for 6－12 months after operation. We obtained the IPSS, maximum urinary flow rate (Qmax), IIEF-5 scores, Male Sexual Health Questionnaire-Ejaculatory Dysfunction-Short Form (MSHQ-EjD-SF) scores and quality of life (QOL) scores from the patients and compared them before and after surgery. RESULTS: Operations were successfully completed in all the cases, with no intraoperative complications, and all the patients were discharged on the second day after surgery. At the 6-month follow-up after surgery, the Qmax increased from (10.08 ± 2.06) ml/s before surgery to (7.51 ± 3.21) ml/s, the IPSS decreased from 23.72 ± 1.87 to 8.06 ± 1.39, and the QOL score decreased from 5.11 ± 0.58 before surgery to 1.28 ± 0.46. The differences in these indicators were statistically significant (P<0.05). And these is no significant difference in the MSHQ-EjD-SF and IIEF-5 score(P>0.05). CONCLUSION Transurethral steam thermal ablation of the prostate is a safe, effective and almost non-invasive surgical strategy for the treatment of BPH, with a good prospect of clinical application.
Humans ; Male ; Prostatic Hyperplasia/surgery* ; Aged ; Middle Aged ; Treatment Outcome ; Steam ; Transurethral Resection of Prostate/methods* ; Quality of Life

OBJECTIVE: To explore the application value of joint detection of serum neutrophil-to-lymphocyte ratio (NLR), prostate-specific antigen (PSA) and MMP26 in differentiating prostate cancer (PCa) from benign prostatic hyperplasia (BPH). METHODS: A total of 61 PCa patients (PCa group) and 63 BPH patients (BPH group) who were treated in The Affiliated Huaian Hospital of Xuzhou Medical University from May 2022 to May 2024 were retrospectively included. The relevant clinical data of all subjects were collected with the serum NLR, PSA and MMP26 levels being detected. Multivariate logistic regression analysis was used to analyze the influencing factors in differentiating PCa from BPH. The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic value of serum NLR, PSA and MMP26 in differentiating PCa from BPH. RESULTS: The levels of TC and LDL-C in the PCa group were higher than those in the BPH group. And the level of HDL-C in the PCa group was lower than that in the BPH group (P<0.05). The serum levels of NLR, PSA and MMP26 in the PCa group were higher than those in the BPH group (P<0.05). The results of multivariate logistic regression analysis showed that NLR, PSA and MMP26 were risk factors for the diagnosis of PCa in patients (P<0.05). The ROC results showed that the area under the curve (AUC) of NLR, PSA MMP26 and joint diagnosis in the identification of PCa was 0.804, 0.800, 0.809 and 0.905, respectively. The comparison results of AUC showed that the joint diagnosis was superior to the single diagnosis (Z=2.262, 2.177, 2.002, P<0.05). CONCLUSION The joint detection of serum NLR, PSA and MMP26 has significant application value in the differentiation of PCa and BPH, which is expected to become an effective tool for early screening and diagnosis of PCa.
Humans ; Male ; Prostatic Hyperplasia/blood* ; Prostate-Specific Antigen/blood* ; Diagnosis, Differential ; Prostatic Neoplasms/blood* ; Retrospective Studies ; Neutrophils ; Lymphocytes ; ROC Curve ; Aged ; Middle Aged

OBJECTIVE: To investigate the efficacy and safety of transurethral water vapor thermal therapy (WVTT) using the Rezūm system for benign prostatic hyperplasia (BPH) in the real world. METHODS: A total of 181 patients with BPH were recruited from the Second Affiliated Hospital of Nanjing Medical University from August 2022 to December 2023, of whom 173 patients were treated with WVTT using the Rezūm system, while 8 patients were treated with WVTT combined with TURP. They were followed up at 1, 3, and 6 months postoperatively to assess changes in the IPSS, QoL, Qmax, IIEF-5, and the occurrence of any complications. Results： All 181 surgeries in this group were successfully completed. The operation time of the Rezūm system was (4.6 ± 1.4) minutes. The postoperative indwelling catheterization time was (8.0 ± 2.1) days. With a follow-up of at least 6 months, there was a significant decrease in PV, IPSS and QoL, and a remarkable increase had been found in Qmax as well (P<0.05). There was no significant difference in IIEF-5 before and after the operation (P>0.05). In this groups of patients, postoperative complications mainly included 95 cases (52.5%) of gross hematuria, 6 cases (3.3%) of retrograde ejaculation, 5 cases (2.8%) of urethral stricture, 4 cases (2.2%) of prostatitis, and 10 cases (5.5%) of urinary tract infection. Four cases (2.2%) underwent surgical retreatment for BPH after surgery. CONCLUSION In the real world, the use of Rezūm thermal steam ablation system for the treatment of BPH has satisfactory short-term effect, short surgical time, and significant improvement in IPSS, QoL, Qmax, which does not adversely affect sexual function.
Humans ; Male ; Prostatic Hyperplasia/therapy* ; Transurethral Resection of Prostate ; Steam ; Treatment Outcome ; Quality of Life ; Aged ; Middle Aged

Objective： To analyze the symptoms, diagnosis and treatment of upper urinary tract calculi patients combined with mild and moderate benign prostatic hyperplasia (BPH) after ureteral stent implantation. Methods： One hundred and six BPH patients who were hospitalized for upper urinary tract calculi and had ureteral stents retained from January 2019 to December 2022 were selected and divided into 2 weeks group and 4 weeks group according to the time of removal of ureteral stents after surgery. Their general clinical data were analyzed and compared. International Prostatic Symptom Scale (IPSS), postoperative ureteral Stent Symptom Questionnaire (USSQ), and incidence of adverse events after ureteral stent removal were recorded before and after removal. Results： The scores of IPSS were significantly increased in all patients, and symptoms in urinary tract had improved significantly after discharge (P<0.05). Compared with the 2 weeks group, the USSQ score of the 4 weeks group was significantly increased (P<0.05). And no significant adverse event was observed in the 2 weeks group after the removal of ureteral sten. Conclusion： IPSS score and USSQ score increased significantly during stent implantation in BPH patients with lithiasis. And complications increased significantly over time. Following thorough clinical assessment, early ureteral stent removal demonstrates both safety and efficacy, representing an optimal therapeutic approach in selected cases.
Humans ; Male ; Prostatic Hyperplasia/surgery* ; Stents ; Ureter/surgery* ; Aged ; Middle Aged ; Urinary Calculi/surgery* ; Ureteral Calculi/surgery*