Volume 106 · Issue 39 · 2026

Andrological rare diseases constitute a low-prevalence disease spectrum centered on male reproductive health, with core manifestations including sexual dysfunction, infertility, and disorders of secondary sexual characteristic development. Although the number of patients with any single disease is very small, the overall coverage is broad, and the absolute population size is not negligible. These diseases seriously impair male patients′ physical and mental health, interact with multi-organ and systemic disorders, and pose significant threats to patients′ health, family well-being, and harmonious social development. This article systematically reviews the current research status and major challenges of rare andrological diseases in China. Drawing on internationally established management models, it proposes feasible pathways for strengthening the research system for rare andrological diseases in China, including the construction of an information registry and specimen management system, promotion of the integration of rare andrological diseases into national disease coordination and management, establishment of a multidisciplinary collaborative diagnosis and treatment system, and enhancement of professional physician training, in order to enhance the comprehensive strength of diagnosis, treatment, scientific research, and education of rare andrological diseases in China.

Diabetes mellitus comprises a group of highly heterogeneous diseases that differ in pathogenic mechanisms and clinical phenotypes, for which traditional classification systems fall short of meeting the demands of precision diagnosis and treatment. Recent genomic studies have uncovered the distinct genetic backgrounds of different diabetes subtypes, driving the development of novel classification tools such as genetic risk scores. Owing to its stability, inherent accessibility, and lifelong applicability, genetic information serves as an important complement to existing diagnostic systems. This expert forum discusses recent advances in the application of genetic factors to diabetes classification, highlighting the translational value of genomics from genes to clinical practice and offering new perspectives for individualized precision medicine.

Osteoporosis is characterized not only by reduced bone mass but also by impaired structure and function of the bone matrix and bone collagen. Although conventional bone mineral density assessment can reflect the level of bone mineralization, it cannot fully capture bone quality and the biomechanical performance of bone tissue. Bone collagen plays a critical role in maintaining bone tissue toughness, energy-absorbing capacity and the stability of bone microarchitecture. Its abnormal cross-linking, degradation and defective repair are closely associated with increased bone fragility. This article focuses on the roles and values of bone collagen in osteoporosis, elaborates on bone collagen-related pathological changes, influencing factors, and its mechanisms in osteoporotic fractures, and introduces the latest diagnostic and therapeutic technologies as well as future development directions. It highlights the great value of establishing a "mineralized-collagen two-dimensional" bone-quality evaluation system that takes both bone mineralization and bone collagen status into account, providing new insights for the precise diagnosis and treatment of osteoporosis and osteoporotic fractures.

Pulmonary hypertension (PH) is a clinical syndrome characterized by elevated pulmonary arterial pressure and increased pulmonary vascular resistance, which eventually leads right failure or even death. Early screening and diagnosis are the core steps to improve prognosis, and early assessment of right heart changes is a key component of risk assessment and treatment strategies. Echocardiography has long been recommended as the first-line screening tool for PH and the most widely used non-invasive modality for right heart structure assessment. It is the most important routine examination throughout the PH disease course. However, there is no unified national standards for echocardiographic assessment of PH, resulting in vastly different results. On this basis, the Pulmonary Vascular Group of the Chinese Medical Doctor Association of Cardiology, the Chinese Society of Echocardiography and the Specialized Committee of Cardiovascular Disease Prevention and Rehabilitation of Chinese Association of Rehabilitation Medicine organized experts in relevant fields to draft Expert consensus on practice of echocardiography in adult pulmonary hypertension (2026 edition), resulting in seven recommendations. The consensus provides a step-by-step interpretation of the acquisition and assessment of essential and optional parameters, using standard images as references, with the aim of offering unified and standardized operational guidance for echocardiographers and other relevant professionals.

Aging is frequently accompanied by a variety of symptoms and changes in physiological indicators that impair men′s quality of life. Alleviating aging-related symptoms and improving quality of life in men has become an important public-health goal. Testosterone levels gradually decline in men with advancing age. Accumulating evidence in recent years suggests that exogenous testosterone supplementation may ameliorate selected aging-related symptoms and enhance men′s health status. This consensus was developed by the Male Health Management Branch of the Chinese Health Management Association, bringing together experts from endocrinology, andrology, traditional Chinese medicine, nutrition and other disciplines. Based on the latest evidence-based medical evidence, 21 recommendations were formulated focusing on key issues including ameliorating aging-related symptoms, appropriate candidates, risk assessment, medication strategies and monitoring protocols of testosterone supplementaion. It aims to provide guidance for clinicians on the scientific and standardized application of testosterone supplementation to alleviate aging-related symptoms in men.

To analyze the disease remission outcomes and the associated factors of deep remission in patients with Crohn disease (CD) receiving ustekinumab (UST) therapy.

The clinical data of patients with active CD who underwent UST therapy at the Department of Gastroenterology, the Second Affiliated Hospital of Wenzhou Medical University between January 2021 and January 2026 were retrospectively collected. After the first intravenous induction therapy with UST (6 mg/kg), the patients received routine subcutaneous maintenance therapy (90 mg), and optimized therapy (including shortening the dosing interval or adjusting the drug) was performed in those patients with poor early response or secondary loss of response during follow-up. At week 44 of therapy, clinical remission [Harvey-Bradshaw index (HBI)≤4 scores], mucosal healing [simplified endoscopic score for Crohn disease (SES-CD)≤2 scores or absence of ulcers], and transmural healing (bowel wall thickness≤3 mm, normalized blood flow signal, clear bowel wall stratification, and absence of mesenteric fat hypertrophy) were evaluated, and simultaneous achievement of the above three criteria was defined as deep remission. The clinical remission rate, mucosal healing rate, transmural healing rate, and deep remission rate at week 44 were calculated. According to whether deep remission was achieved at week 44 of UST therapy, the patients were divided into the deep remission group and the non-deep remission group, and the differences in baseline characteristics were analyzed. Multivariable logistic regression model analysis was used to identify the associated factors for the deep remission at week 44 of UST therapy. Receiver operating characteristic (ROC) curve analysis was further employed to determine the cut-off values of associated factors for predicting the deep remission at week 44.

A total of 156 patients were enrolled, including 100 males and 56 females, with a confirmed age at diagnosis [M (Q₁, Q₃)] of 29 (24, 35) years. At week 44 of therapy, the clinical remission rate was 73.1% (114/156), mucosal healing rate was 46.2% (72/156), and transmural healing rate was 32.7% (51/156). There were 46 and 110 patients in the deep remission group and non-deep remission group, respectively, with a deep remission rate of 29.5%. Compared with the non-deep remission group, the proportion of patients with colonic disease location [32.6% (15/46) vs 7.3% (8/110), P<0.017], the non-stricturing and non-penetrating disease behavior [87.0% (40/46) vs 38.2% (42/110), P<0.017] and the baseline albumin level [(43.3±3.8) vs (40.0±5.3) g/L, P<0.001)] were higher in the deep remission group. However, the baseline bowel wall thickness [5.1 (4.1, 5.5) vs 6.2 (5.4, 9.0) mm, P<0.001] and the proportion of patients receiving optimized therapy [15.2% (7/46) vs 50.0% (55/110), P<0.001] were lower in the deep remission group. Multivariable logistic regression model analysis indicated that stricturing or penetrating disease behavior (OR=0.23, 95%CI: 0.07-0.65), baseline albumin level (OR=1.13, 95%CI: 1.02-1.26), and baseline bowel wall thickness (OR=0.56, 95%CI: 0.37-0.77) were the associated factors for the deep remission at week 44 of UST therapy in CD patients. ROC curve analysis indicated that the cut-off value of baseline albumin level for deep remission at week 44 of UST therapy was 41.2 g/L, the baseline albumin level≥41.2 g/L predicted deep remission with a sensitivity of 82.6% and a specificity of 50.9%. Based on clinical applicability, when the baseline bowel wall thickness was set at 6.0 mm as the clinical reference threshold, the sensitivity and specificity of predicting deep remission with baseline bowel wall thickness<6.0 mm were 84.8% and 64.5%, respectively.

UST therapy can achieve favorable disease remission outcomes in CD patients, with a deep remission rate of 29.5%(46/156) at week 44. Stricturing or penetrating disease behavior, baseline albumin level<41.2 g/L, and baseline bowel wall thickness≥6.0 mm were the associated factors for deep remission at week 44 of UST therapy in CD patients.

To explore the value of the blood system composite indicators [C-reactive protein (CRP)-to-albumin ratio (CAR), platelet count (PLT)-to-albumin ratio (PAR)] in evaluating the endoscopic disease activity of children with Crohn disease (CD).

The clinical data of CD patients who were first hospitalized and diagnosed in the Children′s Hospital Affiliated to Zhengzhou University from January 2015 to January 2025 were retrospectively included. The patients were divided into the mild activity group [simplified endoscopic score for Crohn disease (SES-CD) score of 3-6] and the moderate-to-severe activity group (SES-CD score ≥7) based on the SES-CD. The differences in baseline clinical characteristics (including age, gender, weight, various clinical manifestations, etc.) and related laboratory test results [PLT, CRP, albumin and the blood system composite indicators (CAR, PAR) ] between the two groups. Multivariate logistic regression model was used to analyze the relevant factors of moderate to severe activity in children with CD under endoscopy; The receiver operating characteristic (ROC) curve was used to calculate the area under the curve (AUC) and the cut-off values were calculated with Youden index. The efficacy of the blood system composite indicators (CAR, PAR) in evaluating endoscopic disease activity in children with moderate-to-severe CD was analyzed.

A total of 123 patients were included, including 75 males and 48 females, with an age [M(Q₁, Q₃)] of 5.6 (0.4, 11.0) years; there were 68 cases in the mild activity group and 55 cases in the moderate-to-severe activity group. There was no statistically significant difference between the two groups in terms of baseline clinical characteristics (including age, gender, weight, etc.). The PLT [(400±136)×10⁹/L vs (496±163)×10⁹/L, P=0.001], CRP [8 (1, 40) vs 48 (30, 91) mg/L, P<0.001], CAR [0.2 (0, 1.2) vs 1.5 (1.1, 3.4), P<0.001] and PAR [11 (7, 15) vs 17 (14, 20), P<0.001] of the patients in the mild activity group were all lower than those in the moderate-to-severe activity group. Albumin [(37±7) vs (29±6) g/L, P<0.001] was higher than that in the moderate-to-severe activity group. The results of the multivariate logistic regression model showed that elevated CAR (OR=2.719, 95%CI: 1.629-4.538) and PAR (OR=1.154, 95%CI: 1.036-1.286) levels were positively correlated with moderate-to-severe activity under endoscopy. The results of ROC curve analysis showed that the cut-off value of CAR for diagnosing moderate-to-severe disease activity in children with CD under endoscopy was 0.37, the AUC was 0.859 (95%CI: 0.795-0.923), and the sensitivity and specificity were 100% and 66% respectively; The cut-off value of PAR for diagnosing moderate-to-severe disease activity under endoscopy in children with CD was 16, and the AUC was 0.787 (95%CI: 0.705-0.869). The sensitivity and specificity were 58% and 90% respectively. The AUC of the combined diagnosis of CAR and PAR was 0.885, and the sensitivity and specificity were 95% and 74% respectively.

Elevated levels of CAR and PAR are are both positively correlated with moderate-to-severe endoscopic mobility in children with CD; both have good diagnostic efficacy for moderate-to-severe endoscopic mobility and the combined evaluation is more effective than a single indicator.

To investigate the effect of mycophenolate mofetil on in-stent restenosis (ISR) after percutaneous coronary intervention (PCI) in patients with autoimmune hepatitis (AIH) and overlap syndrome complicated with coronary heart disease.

Patients with autoimmune liver diseases (AILD) [including AIH, primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), and overlap syndrome] complicated with coronary heart disease who underwent PCI at Tianjin Medical University Second Hospital between January 2019 and December 2025 were retrospectively enrolled, they were divided into mycophenolate mofetil group and non-mycophenolate mofetil group according to postoperative use of mycophenolate mofetil, and followed up until March 31, 2026 to compare the baseline characteristics of the two groups of patients. Firth penalized likelihood-corrected Cox regression models and Fine-Gray competing risk models (with all-cause death as the competing event) were used to evaluate the association between mycophenolate mofetil use and ISR after PCI in patients with AIH and overlap syndrome complicated with coronary heart disease (because few patients with PBC and PSC received mycophenolate mofetil, this analysis only included patients with AIH and overlap syndrome). The Benjamini-Hochberg method was applied for multiple comparison correction to calculate the FDR q values. A 1∶1 propensity score matching (PSM) was employed to balance baseline characteristics between the two groups. Kaplan-Meier method was used to plot survival curves to compare the ISR-free survival rates. Sensitivity analysis was performed on all AILD patients to validate the robustness of the results.

A total of 172 patients with AILD complicated with coronary heart disease were enrolled, including 48 cases (27.9%) in the mycophenolate mofetil group and 124 cases (72.1%) in the non-mycophenolate mofetil group. The follow-up duration [M(Q₁, Q₃)] was 13 (7, 16) and 10 (5, 16) months respectively. The proportion of patients with hyperlipidemia [12.5% (6/48) vs 32.3% (40/124), P=0.009] and diabetes mellitus [8.3% (4/48) vs 27.4% (34/124), P=0.007] were lower in the mycophenolate mofetil group than that in the non-mycophenolate mofetil group, while the proportion of patients with high-sensitivity C-reactive protein (hs-CRP)>0.8 mg/L [47.9% (23/48) vs 27.4% (34/124), P=0.010], previous use of prednisone [79.2% (38/48) vs 22.6% (28/124), P<0.001] and azathioprine [54.2% (26/48) vs 9.7% (12/124), P<0.001] were higher than that in the non-mycophenolate mofetil group. The levels of aspartate aminotransferase (AST) [59.5 (35.5, 76.8) vs 43.0 (32.0, 52.7) U/L, P=0.002] and immunoglobulin G (IgG) [19.6 (15.0, 26.0) vs 15.2 (14.0, 16.8) g/L, P=0.006] were higher in the mycophenolate mofetil group. Among 100 patients with AIH and overlap syndrome (82 and 18 cases, respectively), mycophenolate mofetil use was associated with a reduced risk of ISR in both Firth-corrected Cox regression model and competing risk model (Firth-corrected Cox model: HR=0.17, 95%CI: 0.04-0.51, FDR q=0.004; competing risk model: sHR=0.14, 95%CI: 0.05-0.43, FDR q=0.003). After PSM (40 cases in each group), there was no statistically significant difference in all covariates between the two groups (all SMD<0.1). After PSM, Kaplan-Meier survival analysis demonstrated that the follow-up duration was 12 (7, 15) months in the mycophenolate mofetil group and 8 (3, 17) months in the non-mycophenolate mofetil group. The 12-month ISR-free survival rate was higher in the mycophenolate mofetil group than that in the non-mycophenolate mofetil group (97.0% vs 64.5%, P<0.001). In the sensitivity analysis, mycophenolate mofetil use is associated with a reduced risk of ISR (Firth-corrected Cox regression model: HR=0.29, 95%CI: 0.09-0.73, FDR q=0.030; competing risk model: sHR=0.26, 95%CI: 0.10-0.72, FDR q=0.022).

Mycophenolate mofetil use is associated with a reduced risk of ISR after PCI in patients with AIH and overlap syndrome complicated with coronary heart disease.

The clinical data of 3 pediatric patients with methylmalonic acidemia, who were admitted to the Department of Pediatrics of the Second Hospital of Hebei Medical University from March 2019 to August 2025 and predominantly presented with spastic paraplegia, were retrospectively collected, and their clinical features (including blood homocysteine, methylmalonic acid levels and MRI findings) and genetic features were analyzed. The ages at onset of the 3 patients were 13, 9, and 13 years, respectively. Bilateral lower limb weakness was observed as the initial and predominant manifestation in cases 1 and 3, whereas gait abnormality was observed as the initial and predominant manifestation in case 2. Hyperactive tendon reflexes and positive pathological signs were revealed by physical examination in all cases. The serum homocysteine levels of the 3 patients were measured to be 133.4, 81.7, and 112.6 μmol/L, respectively (reference value: <15.0 μmol/L). Urinary organic acid detection by gas chromatography-mass spectrometry showed methylmalonic acid levels of 81.6, 65.4, and 76.2 (reference value: 0-4). Cervical spinal cord MRI was found to be consistent with subacute combined degeneration in 1 case. Cerebral atrophy was suggested by cranial MRI in 2 cases. Compound heterozygous mutations in the MMACHC gene were identified in all 3 patients by targeted capture next-generation sequencing and Sanger sequencing validation: the genetic variants were c.482G>A and c.271dupA in case 1, c.440_441del and c.482G>A in case 2, and c.609G>A and c.482G>A in case 3. All patients were treated with a standardized protocol comprising daily intramuscular vitamin B₁₂, along with oral L-carnitine and betaine, and symptoms and biochemical metabolic parameters of the 3 children were significantly improved during 3-6 years of regular follow-up. The presence of progressive spastic paraplegia as the predominant manifestation in school-aged children should raise suspicion for late-onset methylmalonic acidemia. Elevated homocysteine levels provide an important diagnostic clue, while spinal cord MRI findings consistent with subacute combined degeneration or cranial MRI showing cerebral atrophy offer additional diagnostic support. Early recognition, timely diagnosis, and prompt treatment of this disease are associated with significantly improved prognosis.

This article reports on the complex diagnosis and treatment process of a 41-year-old female patient who visited the Obstetrics and Gynecology Hospital affiliated with Zhejiang University School of Medicine on May 16, 2025, after "elevated serum human chorionic gonadotropin (hCG) levels were found for more than a month". The patient had regular menstruation in the past, increased residual menstrual flow with blood clots in the past six months, and no history of amenorrhea. B-type ultrasound in other hospitals showed slightly hyperechoic uterine cavity and elevated serum hCG. After hysteroscopy, pathology confirmed endometrial polyps. Postoperative menstrual flow was normal, but serum hCG continued to fluctuate between 621 and 1314 U/L (microparticle enzymatic chemiluminescence method). After referral to our hospital, B-mode ultrasound and chest CT examinations showed no abnormalities, and electrochemiluminescence tests for serum and urine hCG were negative (<0.2 U/L), considering hCG false positives. The gradient dilution experiment suggested the presence of macromolecular interferers in the serum. Heterotropic antibody blockers could not completely block the interference. Further detection revealed a significant increase in the patient's serum rheumatoid factor (RF).>1 092 U/ml), and after removing the macromolecular protein by polyethylene glycol precipitation, the original detection platform retested the serum hCG and turned negative. The final diagnosis was a false positive for hCG caused by RF interference, and gestational trophoblastic disease was ruled out. The patient did not receive anti-tumor treatment such as chemotherapy and was only followed up until February 2026, with a good prognosis. This case suggests that in the diagnosis and treatment of low and persistently elevated serum hCG levels of unknown cause, false positive hCG should be excluded first and interfering substances should be systematically screened to avoid misdiagnosis as gestational trophoblastic disease, which could lead to mistreatment.

A 45-year-old female patient was admitted to Peking Union Medical College Hospital for treatment due to "amenorrhea for one and a half years, neck pain, fever, and palpitations for four months". The patient experienced persistent fever, neck pain, palpitations, and weight loss after catching a cold before admission. Auxiliary examinations from outside the hospital showed significantly elevated levels of free triiodothyronine (FT3) and free thyroxine (FT4), slightly lower than the lower limit of normal thyroid stimulating hormone (TSH), increased erythrocyte sedimentation rate, and thyroid ultrasound showed enlargement of the left thyroid lobe with patchy hypoechoic, which was considered "subacute thyroiditis". Symptoms were relieved after oral administration of methylprednisolone. One month later, the symptoms recurred, and a follow-up examination at another hospital showed that the levels of FT3 and FT4 were elevated again. After admission, auxiliary examinations were completed, and the peak TSH level was higher than the upper limit of normal. Octreotide imaging suggested an increased focus of radioactive uptake in the pituitary area, and plain pituitary scan + contrast-enhanced MRI suggested a large pituitary adenoma. Surgical treatment was performed, and postoperative pathology suggested pituitary TSH adenoma. The patient's menstruation recovered 1 month after surgery, and the thyroid function indexes returned to normal 3 months after surgery. This case suggests that when thyroid hormone levels are significantly elevated and TSH is only mildly inhibited, one should be vigilant against inappropriate TSH secretion syndrome; Abnormal anterior pituitary function caused by pituitary TSH adenoma is an important diagnostic clue.

This article reports the diagnosis and treatment of a patient with POEMS syndrome assisted by M protein detection by mass spectrometry. A 55-year-old female patient presented to Peking Union Medical College Hospital in April 2025 with "enlarged lymph nodes for 10 years and numbness in her hands and feet for more than 1 year". The patient's clinical manifestations such as organ enlargement (liver, spleen, and lymph nodes), extravascular volume overload (pleural effusion), characteristic skin changes (leukoplakia, hemangioma), and optic papillary edema, as well as the pathological results of lymph node biopsies consistent with Castleman's disease, highly suspected POEMS syndrome. However, traditional detection methods did not detect M protein. As one of the two mandatory criteria for the diagnosis of POEMS syndrome, it is crucial to clarify the presence of clonal plasma cells. At this time, mass spectrometry provided evidence of the presence of IgA λ-type M protein. After establishing the diagnosis of POEMS syndrome, the patient was given three courses of bortezomib combined with dexamethasone chemotherapy followed by autologous hematopoietic stem cell transplantation. Five months after transplantation, the mass spectrometry turned M protein negative, resulting in complete hematological remission. Therefore, for patients with Castleman-like lymph node changes and clinical manifestations highly pointing to POEMS syndrome, such as when the traditional method M protein test is negative, it is recommended to supplement mass spectrometry testing to help the precise diagnosis and treatment of POEMS.

Obstructive sleep apnea (OSA), as a globally prevalent chronic disease, is closely related to cardiovascular and metabolic diseases and cognitive impairment. Continuous positive airway pressure ventilation is the preferred treatment for moderate to severe patients, but it is constrained by poor compliance. Neuromuscular electrical stimulation maintains upper airway patency by regulating upper airway expander muscles, including electrical stimulation of nerves and electrical stimulation of muscles. This article reviews the development history of this technology, describes the efficacy and safety of various neuromuscular electrical stimulation technologies and devices, introduces the preliminary exploration of hypoglossal nerve stimulation in the application of OSA in children, analyzes existing challenges such as body mass index (BMI) limitations, efficacy evaluation, cost, and domestic accessibility, and looks forward to the development direction of intelligent closed-loop regulation and combination therapy, providing a reference for OSA treatment and device development.