患儿　男，6岁11月龄，因“发现双侧乳房发育半年”就诊于宁夏医科大学总医院。患儿双侧乳房发育，骨龄12岁，不伴有性腺发育障碍，全外显子组测序提示15q21.2上包含CYP19A1的138 kb的拷贝数重复，结合表型及家族史，确诊为家族性男性乳房发育症，予阿那曲唑治疗4个月后患儿双侧乳房明显缩小。.

BACKGROUND: Gynecomastia denotes the benign proliferation of glandular breast tissue and stands as a recognized risk factor for male breast cancer. Nonetheless, the underlying carcinogenic mechanisms orchestrating the progression from gynecomastia to cancer remain poorly understood.
METHODS: This study employed single-cell RNA sequencing (scRNA-seq) to meticulously dissect the cellular landscape of gynecomastia and unravel potential associations with male breast cancer at a single-cell resolution. Pseudotime and evolutionary analyses were executed to delineate the distinct features characterizing gynecomastia and male breast cancer. The TCGA database, along with cell-cell communication analysis and immunohistochemistry staining, was harnessed to validate differential gene expression, specifically focusing on CD13.
RESULTS: From the copy number variation profiles and evolutionary tree, we inferred shared mutation characteristics (18p+ and 18q+) underpinning both conditions. The developmental trajectory unveiled an intriguing overlap between gynecomastia and malignant epithelial cells. Moreover, the differential gene CD13 emerged as a common denominator in both gynecomastia and male breast cancer when compared with normal mammary tissue. Cell-cell interaction analysis and communication dynamics within the tumor microenvironment spotlighted distinctions between CD13+ and CD13- subsets, with the former exhibiting elevated expression of FGFR1-FGF7.
CONCLUSIONS: Our investigation provides novel insights into the evolutionary progression from gynecomastia to male breast cancer, shedding light on the pivotal role of CD13 in driving this transition. The identification of CD13 as a potential therapeutic target suggests the feasibility of CD13-targeted interventions, specifically tailored for male breast cancer treatment.

BACKGROUND: To summarize the experiences on the mastoscopic subcutaneous mastectomy for gynecomastia by \"nine-step method\" based on the \"5S\" goal and standardize this operation.
METHODS: Between January 1, 2002, and October 31, 2021, a total of 2035 breasts of 1082 male patients with gynecomastia, of which 129 patients with one side, were underwent mastoscopic subcutaneous mastectomy. The follow-up endpoint was 3 months after surgery.
RESULTS: All patients were successfully completed the operation, and none of them was transferred to open operation. The operation time for unilateral breast was 12-28 min, and the average time was 17.7 ± 6.2 min. The amount of bleeding during unilateral operation was very small, about 5-10 ml. The total drainage volume was 5-50 ml after the operation, and the drainage tube was removed in 3-5 days. The epidermal necrosis occurred in 0.3% nipple. 0.2% chest wall had a little ecchymosis in the supero-medial region of the breast. All patients had the normal feeling of nipples and areola, the smoothing and symmetrical chest wall, and the natural contour. There was no recurrence during the follow-up period.
CONCLUSIONS: The mastoscopic subcutaneous mastectomy for gynecomastia by \"nine-step method\" based on the \"5S\" goal has a short operation time, few surgical complications and good esthetics. It achieves the \"5S\" goals on the complete removal of glandular tissue (sweeping), small and scar-hidden incision are small (scarless), good symmetry of bilateral chest wall (symmetry), normal chest shape (shape), and smoothing chest wall (smoothing).
METHODS: The journal asks authors to assign a level of evidence to each article. For a complete description of Evidence-Based Medicine ratings, see the Table of Contents or the online Instructions for Authors at www.springer.com/00266 .

Androgen insensitivity syndrome (AIS) is a rare disorder with X-linked recessive inheritance in 46 XY patients. The clinical manifestations vary between patients, especially regarding external genitalia development. Herein, the case of AIS in a 13-year-old male, who was born with hypospadias and presented to the hospital with gynaecomastia that had developed from 8 years of age, is reported. No micropenis, cryptorchidism or bifid scrotum were found. Testis volume was 12 ml on both sides. His testosterone and luteinizing hormone levels were normal compared with sex- and age-adjusted reference range. His bone age was approximately 13 years according to Greulich-Pyle assessment. Sequence analysis of the androgen receptor (AR) gene revealed a mutation (c.2041A>G) in exon 4, a novel mutation site in the AR gene. Prediction analysis suggested this to be a disease-causing variant. A milder clinical presentation and normal hormone levels in cases of partial AIS might differ from the usually reported signs and symptoms. A diagnosis of AIS should not be ignored in teenage patients who present with gynaecomastia and hypospadias, but normal hormone levels.

Individuals with 17-beta-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency face a multitude of challenges, primarily concerning genital appearance, potential malignancy risks, and fertility issues. This study reports our findings from an investigation involving five individuals affected by 17β-HSD3 deficiency, ranging in age from pre-adolescence to adolescence. Notably, we identified four previously unreported mutations in these subjects.
Our study included a comprehensive evaluation to determine the potential occurrence of testicular tumors. The methods involved clinical examinations, genetic testing, hormone profiling, and patient history assessments. We closely monitored the progress of the study subjects throughout their treatment.
The results of this evaluation conclusively ruled out the presence of testicular tumors among our study subjects. Moreover, four of these individuals successfully underwent gender transition. Furthermore, we observed significant improvements in genital appearance following testosterone treatment, particularly among patients in the younger age groups who received appropriate treatment interventions.
These findings underscore the critical importance of early intervention in addressing concerns related to genital appearance, based on our extensive clinical experience and assessments. In summary, our study provides insights into the clinical aspects of 17β-HSD3 deficiency, emphasizing the vital significance of early intervention in addressing genital appearance concerns. This recommendation is supported by our comprehensive clinical assessments and experience.

This retrospective study rigorously compares the clinical efficacy of three surgical methodologies for treating gynecomastia while providing guidance for future surgical modality selection. We analyzed records of 77 gynecomastia patients treated between January 2015 and October 2022. Patients were categorized into three groups: Group A (subcutaneous gland resection via areola incision), Group B (liposuction combined with single-hole endoscopic gland resection), and Group C (liposuction combined with three-hole endoscopic gland resection). Parameters assessed included patient demographics, intraoperative bleeding, surgical duration, hospitalization duration, costs, postoperative drainage, complications, and patient satisfaction. Group A had significantly shorter operation time and lower cost than Groups B and C (P < 0.05). There were no significant differences in postoperative drainage (P > 0.05). Group A had a higher incidence of subcutaneous fluid complications. All groups achieved 100% overall postoperative efficiency. Group B demonstrated superior outcomes for scarring and patient satisfaction. All three surgical modalities effectively treat gynecomastia. Circumareolar incision subcutaneous gland resection is optimal for mild to moderate cases due to reduced operation time and cost. Liposuction with single-hole endoscopic gland resection and three-hole endoscopic gland resection offers fewer complications and discreet incisions. Notably, the liposuction and single-hole endoscopic approach yielded superior postoperative patient satisfaction, aligning with minimally invasive principles and warranting broad clinical application.

The authors report a case of a 29-year-old male presented with bilateral breast enlargement with no significant past medical history or estrogen exposure. Serum β-human chorionic gonadotropin (HCG) was 14,306.60 mIU and positron emission tomography-computed tomography discovered a malignant mass on the right side of anterior superior mediastinum. Magnetic resonance imaging demonstrated pituitary microadenoma. Pathological biopsy showed poorly differential pituitary adenoma and immunohistochemical staining displayed that CK(+), PLAP(-), AFP(-), HCG(+), CD30(-), Oct3/4(-), CK7(+), TTF-1(-), CD117(-), Ki 67(80+), CK5/6(-), EMA(partial+), inhibin(partial+). A diagnosis of primary anterior mediastinal choriocarcinoma metastasis to bilateral lungs accompanied with pituitary microadenoma was confirmed. Then the patient received chemotherapy combined with immunotherapy. But serum β-HCG level was still above the normal, and unfortunately, the patient died 6 months after his diagnosis. This case inspires us to think of the possibility of choriocarcinoma when a man presents gynecomastia or lung metastatic symptoms, adding Opdivo to the chemotherapy might not improve the poor treatment outcomes.

BACKGROUND: Currently, a standard, optimal surgical procedure is still lacking for gynecomastia. Despite the development of a variety of surgical interventions, these techniques were often limited to patients with Simon I and II. The present study aimed to introduce a novel technique for all types and grades of gynecomastia, and reported the preliminary results.
METHODS: Patients who received single axillary incision reverse sequence endoscopic nipple-sparing mastectomy (R-E-NSM) from March 2021 to March 2023 were enrolled at a single institution. The data from 3-month follow-up cut-off were collected prospectively and analyzed to determine the short-term esthetic and safety results of this technique, as well as the learning curve.
RESULTS: A total of 159 single axillary incision reverse sequence endoscopic nipple-sparing mastectomy procedures were performed in 81 gynecomastia patients. Among these 81 patients, 7 patients (8.6%) were classified as Simon grade I, 29 patients (35.8%) as grade IIa, 24 patients (29.6%) as grade IIb, and 21 patients (25.9%) as grade III. In the patient-reported cosmetic results, the overall satisfaction score was 8.4 ± 1.4. A total of 74.1% of patients were highly satisfied, and 25.9% were satisfied. The overall complication rate was 10.1%, and only 1 patient had a major complication. According to the cumulative sum plot analysis, approximately 12 cases were needed for surgeon B and 11 cases for surgeon C to decrease their operation time significantly.
CONCLUSIONS: R-E-NSM is safe and effective for all Simon grade gynecomastia patients, with excellent cosmetic results and a short learning curve. However, a long-term follow-up assessment is still needed.
METHODS: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

暂无摘要。

BACKGROUND: Minimally invasive access and fast recovery are trends of gynecomastia surgery. We placed great importance on liposuction and modified original pull-through technique. The purpose of this study was to present a refined surgical strategy for gynecomastia in grade I and II.
METHODS: The refined strategy embraced enhanced liposuction to remove the intraglandular fat sufficiently, followed by open resection of gland using the pull-through and bottom-up technique with adjuvant liposuction in the end. Surgical data were recorded and satisfactory questionnaires with 5-point scales were administered during follow-up.
RESULTS: Between January 2017 and May 2022, 165 patients underwent enhanced liposuction combined with the pull-through and bottom-up technique for gland excision. Age ranged from 12 to 56 years. The median length of surgery was 100 min. A median of 300 ml of fat was aspirated and a median of 20.8 g of gland was excised. Seventy-seven patients (46.7%) responded the questionnaires at least 6 months postoperatively, and the average overall satisfaction was 4.68 ± 0.52 points. Thirteen sides of breasts developed complications with a rate of 4.0%.
CONCLUSIONS: Enhanced liposuction combined with pull-through and bottom-up technique proved effective to treat grade I and II gynecomastia with minimal scarring and high satisfaction. The refined strategy was simple and safe, and would obtain optimal outcomes even for inexperienced surgeons.