Background: Metformin has been studied for its anti-proliferative effects on endometrial cells, and it is hypothesized to have a synergistic effect with progestin therapy in suppressing endometrial cell proliferation. This systematic review and meta-analysis aimed to determine the efficacy of adjunctive metformin in the clinical regression of endometrial hyperplasia and early-stage endometrial carcinoma. Methodology: This meta-analysis followed the Cochrane methodology and adhered to the PRISMA 2020 guidelines. Randomized controlled trials (RCTs) were included if they enrolled reproductive-aged women with endometrial hyperplasia (with and without atypia) and endometrial carcinoma who were treated with progestin and metformin. The primary outcome was the complete response rate at 12-16 weeks, and secondary outcomes included relapse rate, clinical pregnancy rate, and live birth rate. Odds ratios (ORs) and 95% confidence intervals (CIs) were used for dichotomous data. Results: Six RCTs were included. The addition of metformin to progestin therapy may increase the complete response rate of endometrial hyperplasia without atypia (OR 5.12, 95% CI 1.17 to 22.41; n=102) and live birth rates (OR 2.51, 95% CI 1.34 to 4.69; n=188) compared to progestin therapy alone, but the certainty of the evidence is low. Metformin did not have a significant effect on the clinical response of endometrial hyperplasia with atypia and endometrial carcinoma, relapse rates, and clinical pregnancy rates. Conclusion Current evidence is uncertain on the potential benefit of metformin with progestin in endometrial hyperplasia and carcinoma. Future high-quality randomized controlled trials with larger sample sizes and longer follow-up periods are needed to support practice recommendations.
Endometrial Hyperplasia ; Endometrial Neoplasms ; Metformin ; Progesterone

The majority of patients with congenital adrenal hyperplasia (CAH) present with a deficiency of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of cases, respectively. However, CAH due to 17α-hydroxylase deficiency (17OHD) is an extremely rare form of CAH (<1% of all CAH cases) that leads to a deficiency of cortisol and sex steroids, along with features of aldosterone excess. This is a case of a 51-year-old single female who was referred to us for the evaluation of new-onset hypertension and hypokalaemia of one-year duration. She was born out of a second-degree consanguineous marriage and reared as a female. She was diagnosed to have testicular feminization syndrome when she presented with a history of primary amenorrhea, absence of secondary sexual characteristics, and bilateral labial swellings at pubertal age. Subsequently, she underwent gonadectomy at the age of 16. Due to the presence of hypertension, metabolic alkalosis and bilaterally enlarged adrenals on CT scan, 46, XY disorders of sexual development (DSD) was considered. A karyotype confirmed the presence of 46, XY chromosomal sex, and genetic analysis revealed a mutation in the CYP17A1 gene, thus confirming the diagnosis of 17a-hydroxylase deficiency.
Disorders of Sex Development ; Adrenal Hyperplasia, Congenital ; Disorder of Sex Development, 46,XY

OBJECTIVE: To analyze a child with 11β hydroxylase deficiency (11β-OHD) due to CYP11B2/CYP11B1 chimeric gene. METHODS: Clinical data of the child who was admitted to Henan Children's Hospital on August 24, 2020 were retrospectively analyzed. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RT-PCR and Long-PCR were carried out to verify the presence of chimeric gene. RESULTS: The patient, a 5-year-old male, had featured premature development of secondary sex characteristics and accelerated growth, and was diagnosed with 21 hydroxylase deficiency (21-OHD). WES revealed that he has harbored a heterozygous c.1385T>C (p.L462P) variant of the CYP11B1 gene, in addition to a 37.02 kb deletion on 8q24.3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1385T>C (p.L462P) was rated as a likely pathogenic variant (PM2_Supporting+PP3_Moderate+PM3+PP4). The results of RT-PCR and Long-PCR suggested that CYP11B1 and CYP11B2 genes have recombined to form a CYP11B2 exon 1~7/CYP11B1 exon 7~9 chimeric gene. The patient was diagnosed as 11β-OHD and effectively treated with hydrocortisone and triptorelin. A healthy fetus was delivered following genetic counseling and prenatal diagnosis. CONCLUSION 11β-OHD may be misdiagnosed as 21-OHD due to the potential CYP11B2/CYP11B1 chimeric gene, which will require multiple methods for the detection.
Child, Preschool ; Humans ; Male ; Adrenal Hyperplasia, Congenital/genetics* ; Cytochrome P-450 CYP11B2/genetics* ; Exons ; Retrospective Studies ; Steroid 11-beta-Hydroxylase/genetics*

21 hydroxylase deficiency (21-OHD), the most common form of congenital adrenal hyperplasia, is caused by defects in CYP21A2 gene, which encodes the cytochrome P450 oxidase (P450C21) involved in glucocorticoid and mineralocorticoid synthesis. The diagnosis of 21-OHD is based on the comprehensive evaluation of clinical manifestation, biochemical alteration and molecular genetics results. Due to the complex structure of CYP21A2, special techniques are required to perform delicate analysis to avoid the interference of its pseudogene. Recently, the state-of-the-art diagnostic methods were applied to the clinic gradually, including the steroid hormone profiling and third generation sequencing. To standardize the laboratory diagnosis of 21-OHD, this consensus was drafted on the basis of the extensive knowledge, the updated progress and the published consensuses and guidelines worldwide by expert discussion organized by Rare Diseases Group of Pediatric Branch of Chinese Medical Association, Medical Genetics Branch of Chinese Medical Doctor Association, Birth Defect Prevention and Molecular Genetics Branch of China Maternal and Child Health Association. and Molecular Diagnosis Branch of Shanghai Medical Association.
Child ; Humans ; Adrenal Hyperplasia, Congenital/genetics* ; Steroid 21-Hydroxylase/genetics* ; Consensus ; China ; Clinical Laboratory Techniques ; Mutation

This study evaluated the association of periurethral calcification (PUC) with uroflowmetric parameters and symptom severity in male patients with lower urinary tract symptoms (LUTS) of benign prostatic hyperplasia (BPH). The data were collected from a prospectively maintained database of 1321 men with LUTS of BPH who visited Chonnam National University Hospital (Gwang-ju, Korea) from January 2015 to December 2019. PUC severity and location were evaluated on the midsagittal plane during transrectal ultrasonography. Relationships among age, prostate-related parameters, International Prostate Symptom Score (IPSS), and uroflowmetric parameters were assessed. Among the 1321 patients in this study, 530 (40.1%) had PUC. Patients with PUC had significantly higher IPSS (mean ± standard deviation [s.d.]: 15.1 ± 8.7 vs 13.1 ± 7.9; P < 0.001) and lower peak flow rate (Qmax; mean ± s.d.: 12.4 ± 6.6 ml s^-1 vs 14.7 ± 13.3 ml s^-1; P < 0.001), compared with patients who did not have PUC. Analyses according to PUC severity revealed that patients with severe PUC had higher prostate-specific antigen (PSA) level (P = 0.009), higher total IPSS (P < 0.001), lower Qmax (P = 0.002), and smaller prostate volume (P < 0.001), compared with patients who had non-severe (mild or moderate) PUC. Multivariate analysis showed that distal PUC was independently associated with high total IPSS (P = 0.02), voiding symptom score (P = 0.04), and storage symptom score (P = 0.023), and low Qmax (P = 0.015). In conclusion, PUC was significantly associated with worse LUTS parameters in terms of IPSS and Qmax. Furthermore, distally located PUC was independently associated with worse LUTS of BPH in men.
Humans ; Male ; Prostatic Hyperplasia/diagnostic imaging* ; Prostate/diagnostic imaging* ; Clinical Relevance ; Hyperplasia ; Lower Urinary Tract Symptoms/complications* ; Calcinosis/diagnostic imaging*

Enhanced recovery after surgery (ERAS) measures have not been systematically applied in transurethral surgery for benign prostatic hyperplasia (BPH). This study was performed on patients with BPH who required surgical intervention. From July 2019 to June 2020, the ERAS program was applied to 248 patients, and the conventional program was applied to 238 patients. After 1 year of follow-up, the differences between the ERAS group and the conventional group were evaluated. The ERAS group had a shorter time of urinary catheterization compared with the conventional group (mean ± standard deviation [s.d.]: 1.0 ± 0.4 days vs 2.7 ± 0.8 days, P < 0.01), and the pain (mean ± s.d.) was significantly reduced through postoperative hospitalization days (PODs) 0-2 (POD 0: 1.7 ± 0.8 vs 2.4 ± 1.0, P < 0.01; POD 1: 1.6 ± 0.9 vs 3.5 ± 1.3, P < 0.01; POD 2: 1.2 ± 0.7 vs 3.0 ± 1.3, P < 0.01). No statistically significant difference was found in the rate of postoperative complications, such as postoperative bleeding (P = 0.79), urinary retention (P = 0.40), fever (P = 0.55), and readmission (P = 0.71). The hospitalization cost of the ERAS group was similar to that of the conventional group (mean ± s.d.: 16 927.8 ± 5808.1 Chinese Yuan [CNY] vs 17 044.1 ± 5830.7 CNY, P =0.85). The International Prostate Symptom Scores (IPSS) and quality of life (QoL) scores in the two groups were also similar when compared at 1 month, 3 months, 6 months, and 12 months after discharge. The ERAS program we conducted was safe, repeatable, and efficient. In conclusion, patients undergoing the ERAS program experienced less postoperative stress than those undergoing the conventional program.
Male ; Humans ; Prostatic Hyperplasia/complications* ; Quality of Life ; Transurethral Resection of Prostate/adverse effects* ; Treatment Outcome ; Enhanced Recovery After Surgery

OBJECTIVES: To evaluate the feasibility and safety of bipolar-plasmakinetic transurethral enucleation and resection of the prostate (B-TUERP) in day surgery. METHODS: From January 2021 to August 2022, 34 patients with benign prostatic hyperplasia (BPH) underwent B-TUERP in day surgery in the First Affiliated Hospital of Anhui Medical University. Patients completed the screening and anesthesia evaluation before admission and received the standard surgery which implements "anatomical enucleation of the prostate" and "absolute bleeding control" on the same day of admission, and by the same doctor. Bladder irrigation was stopped, catheter was removed and the discharge evaluation was performed on the first day after operation. The baseline data, perioperative conditions, time of recovery, treatment outcomes, hospitalization costs, and postoperative complications were analyzed. RESULTS: All operations were successfully conducted. The average age of the patients was (62.2±7.8) years, average prostate volume was (50.2±29.3) mL. The average operation time was (36.5±19.1) min, the average hemoglobin and blood sodium were decreased by (16.2±7.1) g/L and (2.2±2.0) mmol/L, respectively. The average postoperative length of hospital stay, and total length of hospital stay were (17.7±2.2) and (20.8±2.1) h, respectively, and the average hospitalization cost was (13 558±2320) CNY. All patients were discharged on the day after surgery except for one patient who was transferred to a general ward. Three patients received indwelling catheterization after catheter removal. The 3-month follow-up results showed a substantial improvement in the International Prostate Symptom Score, quality of life score and maximum urinary flow rate (all P<0.01). Three patients experienced temporary urinary incontinence, 1 patient experienced urinary tract infection, 4 patients were diagnosed with urethral stricture and 2 patients experienced bladder neck contracture. No complications above Clavien grade Ⅱ occurred. CONCLUSIONS The preliminary results showed that B-TUERP ambulatory surgery is a safe, feasible, economical and effective treatment for appropriately selected patients with BPH.
Male ; Humans ; Middle Aged ; Aged ; Prostate/surgery* ; Prostatic Hyperplasia/surgery* ; Ambulatory Surgical Procedures ; Quality of Life ; Feasibility Studies ; Retrospective Studies ; Treatment Outcome

OBJECTIVES: To investigate the effect of progressive pre-disconnection of urethral mucosal flap during transurethral plasmakinetic enucleation of prostate (TUPEP) on early recovery of urinary continence. METHODS: Clinical data of patients with benign prostatic hyperplasia (BPH) admitted in Zhujiang Hospital of Southern Medical University during February and May 2022 were collected. All the patients underwent TUPEP, and the progressive pre-disconnection of urethral mucosal flap was performed in the procedure. The total operation time, enucleation time, postoperative bladder irrigation time and catheter indwelling time were recorded. Urinary continence was evaluated 24 h, 1 week, and 1, 3, 6 months after the removal of urinary catheter. RESULTS: All surgeries were successfully completed at one time with less intraoperative bleeding, and there were no complications such as rectal injury, bladder injury or perforation of prostate capsule. The total operation time was (62.2±6.5) min, the enucleation time was (42.8±5.2) min, the postoperative hemoglobin decrease by (9.5±4.5) g/L, the postoperative bladder irrigation time was (7.9±1.4) h, and the postoperative catheter indwelling time was 10.0 (9.2, 11.4) h. Only 2 patients (3.6%) had transient urinary incontinence within 24 h after catheter removal. No urinary incontinence occurred at 1 week, and 1, 3, 6 months after operation, and no safety pad was needed. The Qmax at 1 month after operation was 22.3 (20.6, 24.4) mL/s, international prostate symptom scores were 8.0 (7.0, 9.0), 5.0 (4.0, 6.0) and 4.0 (3.0, 4.0) at 1, 3 and 6 months after surgery, and quality of life scores at 1, 3 and 6 months after surgery were 3.0 (2.0, 3.0), 2.0 (1.0, 2.0) and 1.0 (1.0, 2.0), all of these indicators were better than those before surgery (all P<0.01). CONCLUSIONS In the treatment of BPH, the application of progressive pre-disconnection of urethral mucosal flap in TUPEP can completely remove the hyperplastic glands and promote early recovery of postoperative urinary continence with less perioperative bleeding and decreased surgical complications.
Male ; Humans ; Prostate ; Prostatic Hyperplasia/surgery* ; Transurethral Resection of Prostate/methods* ; Quality of Life ; Urinary Bladder ; Urinary Incontinence/surgery* ; Treatment Outcome

Benign prostatic hyperplasia (BPH) is the most common cause of lower urinary tract symptoms in men. When drug treatment is ineffective or conventional surgery is not suitable, novel minimally invasive therapies can be considered. These include prostatic urethral lift, prostatic artery embolisation, water vapor thermal therapy, Aquablation-image guided robotic waterjet ablation, temporary implantable nitinol device and prostatic stents. These novel therapies can be performed in outpatient setting under local anesthesia, with shorter operative and recovery times, and better protection of ejaculatory function and erectile function. General conditions of the patient and advantages and disadvantages of the each of these therapies should be fully considered to make individualized plans.
Male ; Humans ; Prostatic Hyperplasia/complications* ; Stents/adverse effects* ; Embolization, Therapeutic/adverse effects* ; Lower Urinary Tract Symptoms/surgery* ; Treatment Outcome ; Minimally Invasive Surgical Procedures

Congenital Adrenal Hyperplasia and Turner Syndrome are not very rare diseases. However, their combination may be confounding. Presented here is a case of a 54 year old nulligravid, with primary amenorrhea, short stature, absent breast development, hirsutism, signs of virilization, and clitoromegaly who came in due to hypogastric pain and an enlarging palpable hypogastric mass. Diagnostic procedures and surgical management are discussed.
Congenital Adrenal Hyperplasia ; Turner Syndrome