Severe hyperandrogenism with new-onset virilization in postmenopausal women is rare and often associated with androgen-secreting tumors. Nevertheless, a comprehensive differential diagnosis must be considered, including ovarian hyperthecosis and Cushing syndrome. We report a 71-year-old woman with progressive hirsutism over 1-2 years, presenting with severe hyperandrogenism and insulin resistance. Physical examination revealed moderate hirsutism with a score of 15 according to the modified Ferriman-Gallwey scale, androgenic alopecia, dental diastema, macroglossia, and acanthosis. Hormonal analysis demonstrated elevated free testosterone levels on two separate occasions: 8.1 ng/mL (SI: 28 nmol/L) and 6.7 ng/mL (SI: 23.2 nmol/L) (reference range 0.12-0.35 ng/mL [SI 0.42-1.22 nmol/L]); with all other androgenic parameters within the normal range. Imaging studies, including abdominal computed tomography (CT) and transvaginal ultrasound, showed normal adrenal glands and adnexa. Based on clinical suspicion, the patient underwent bilateral adnexectomy. Histopathology confirmed a bilateral ovarian steroid cell tumor, not otherwise specified. Postoperatively, serum testosterone normalized (0.16 ng/mL [SI: 0.55 nmol/L]) within one month with progressive improvement in hirsutism.

Obstructive sleep apnea (OSA) is a highly prevalent sleep-related breathing disorder with a considerable healthcare burden. Previously, the 2011 guideline for adult obstructive sleep apnea was largely formulated on the basis of expert opinion and consensus, which played an important role in guiding clinical practice. With the growing body of evidence from high-quality clinical studies, however, guideline development models that rely primarily on expert consensus are no longer adequate to support contemporary clinical decision-making. To further standardize the screening, diagnosis, treatment, and long-term management of OSA in adults, the Sleep Disordered Breathing Assembly of the Chinese Thoracic Society has developed evidence-based clinical practice guidelines. The recommendations were formulated according to the best currently available evidence, following the Appraisal of Guidelines for Research and Evaluation Ⅱ (AGREE Ⅱ) framework and the Reporting Items for Practice Guidelines in Healthcare (RIGHT) statement. Based on an extensive preliminary investigation, the guideline addresses 18 key clinical questions and provides detailed, evidence-based recommendations, aiming to support clinical decision-making and to promote standardized diagnosis, treatment, and management of adults with OSA in China.The clinical questions and recommendations are listed below.Question 1: Which populations should be screened for OSA?Recommendation 1: Routine screening for OSA is not recommended in the general population without high-risk features (1, A). Screening is recommended for individuals at high risk for OSA who exhibit typical symptoms or physical signs, or who have relevant comorbidities. Screening is also recommended for perioperative patients (e.g., candidates for bariatric surgery or other high-risk procedures) (1, A). Screening may be considered for high-risk individuals without typical symptoms (2, B). Screening is also recommended for individuals whose OSA may increase the risk of driving or occupational accidents (1, A).High-risk populations for OSA include: (1) Individuals with typical OSA symptoms, such as habitual snoring, excessive daytime sleepiness, witnessed apneas, nocturnal gasping or choking, morning headaches, morning dry mouth, non-restorative sleep, nocturia, impaired attention, memory decline, and reduced sexual function; (2) Individuals with typical physical signs of OSA, including obesity, increased neck circumference, retrognathia or micrognathia, macroglossia, enlarged uvula and soft palate, and tonsillar hypertrophy; (3) Individuals with OSA-related complications or comorbidities, such as obesity, hypertension, type 2 diabetes mellitus, cardiovascular disease, metabolic syndrome, hypothyroidism, polycystic ovary syndrome, acromegaly, neuromuscular diseases, depression, and anxiety; (4) Specific populations, including middle-aged and older men, pregnant women, and postmenopausal women; (5) Individuals with a family history of OSA, particularly those with first-degree relatives affected by OSA (1, A).Question 2: What is the role of questionnaires, craniofacial assessment, and other predictive tools in screening and evaluating individuals at high risk for OSA?Recommendation 2: The STOP-Bang questionnaire is recommended for OSA screening (1, A). The Berlin questionnaire and STOP questionnaire may also be considered (1, B). The Epworth Sleepiness Scale (ESS) is recommended to assess daytime sleepiness severity but should not be used to diagnose OSA (1, A). Subjective questionnaires alone, without objective sleep monitoring, are not recommended for OSA diagnosis (1, A).A structured physical examination of the upper airway and craniofacial features is recommended, including the modified Mallampati score and Friedman tongue position classification. Further evaluation (e.g., cephalometric radiography, CT or MRI of the upper airway) may be performed when indicated (1, A).Clinically validated consumer-grade sleep monitors and wearable AI devices may be considered to assist self-screening in high-risk individuals and encourage timely medical consultation. However, these are non-medical screening tools and should not replace medical-grade sleep monitoring for diagnosis (1, A).Question 3: How should polysomnography (PSG) and home sleep apnea testing (HSAT) be used in the diagnosis of OSA in adults?Recommendation 3: PSG is the gold standard for diagnosing OSA in adults (1, A). It is recommended as the first choice for complex cases (especially those with comorbid sleep disorders) and individuals in high-risk occupations (1, A). PSG is also preferred for precise assessment of treatment efficacy and follow-up (1, A).HSAT is recommended for diagnosing clinically suspected moderate-to-severe uncomplicated OSA, but should not be used to rule out OSA (1, A). It may also be used for hospitalized patients with limited mobility or critical illness requiring prompt intervention (1, A). HSAT can serve as an adjunct tool for treatment response assessment and follow-up (1, A). It is not recommended for general screening of asymptomatic individuals or for diagnosing mild OSA (1, A).Question 4: What are the diagnostic criteria and severity classification for OSA in adults?Recommendation 4: The ICSD-3-TR diagnostic criteria are recommended for diagnosing OSA in adults (1, A). In resource-limited primary care settings, simplified criteria incorporating history, physical examination, and pulse oximetry may be used (1, A).OSA severity should be classified primarily based on the apnea-hypopnea index (AHI), with nocturnal minimum pulse oxygen saturation as a supplementary measure of hypoxemia burden (1, A). Emerging indices such as HB and SBII may be considered when assessing cardiovascular and comorbidity risks (2, B).Question 5: How should OSA phenotypes and endotypes be assessed?Recommendation 5: There is no universally accepted phenotyping standard. In clinical practice, symptom-based categories are commonly used: excessive daytime sleepiness predominant, sleep disturbance/fragmentation predominant, and asymptomatic/minimally symptomatic phenotypes (1, B). Phenotype assessment should integrate demographics, symptoms, history, PSG data, and validated questionnaires (1, B).Endotyping may be considered using four physiological traits: critical closing pressure, arousal threshold, loop gain, and upper airway muscle responsiveness (1, B). Techniques such as CPAP pressure titration and esophageal pressure monitoring may be used to assess OSA endotypes (1, B). Alternatively, OSA endotypes may be estimated through advanced analysis of PSG signals (2, B).Individualized assessment of patients with OSA may also incorporate potentially treatable traits, including daytime functional impairment (e.g., excessive daytime sleepiness), co-existing sleep disorders (e.g., insomnia), specific high-risk factors (e.g., obesity), and underlying pathophysiological mechanisms, such as those described in the PALM framework (2, B).Question 6: Which health complications and safety risks should be prioritized in adults with OSA?Recommendation 6: Adults with OSA should be specifically monitored for cardiovascular disease, cerebrovascular disease, metabolic disorders, cognitive impairment, and traffic-or occupation-related safety risks (1, A). Evaluation for other potential risks, including malignancy, depression, chronic cough, asthma, and chronic obstructive pulmonary disease (COPD), is also recommended (1, B).Question 7: How should comprehensive management of adults with OSA be implemented?Recommendation 7: Comprehensive management of adult OSA should be multidisciplinary, individualized, and long-term, based on disease severity, etiology, lifestyle, and patient preferences (1, A).Lifestyle interventions are recommended for all patients, including dietary control, alcohol avoidance, smoking cessation, cautious use or avoidance of sedative-hypnotic agents and other medications that may induce or exacerbate OSA, sleep hygiene, and regular physical activity (1, A). Positional therapy is recommended for position-dependent OSA (1, A). Active weight management with a body mass index (BMI)-based stepwise strategy is recommended (1, A).Question 8: What are the indications for positive airway pressure (PAP) therapy in adults with OSA?Recommendation 8: PAP therapy is recommended as first-line treatment for adults with moderate-to-severe OSA (AHI≥15 events/h) (1, A). It may also be considered for patients with mild OSA who have cardiovascular or cerebrovascular disease, hypertension, diabetes, COPD, or prominent symptoms such as EDS, cognitive impairment, insomnia, or depression, as well as for perioperative patients (1, B).Question 9: How should PAP modalities be selected for adults with OSA?Recommendation 9: CPAP, APAP and BPAP are comparable in efficacy, safety, and adherence. CPAP is recommended as the default modality due to lower cost (1, A). APAP is recommended for patients intolerant to CPAP, or with positional, sleep-stage dependent, or alcohol-related OSA, or significant weight fluctuations (1, A). For asymptomatic patients, CPAP or APAP is recommended (1, A). BPAP is indicated if obstructive events persist at CPAP pressures≥15 cmH2O (1 cmH2O=0.098 kPa), for intolerance to high CPAP pressures, or for OSA with chronic hypoventilation disorders such as COPD, neuromuscular diseases, or obesity hypoventilation syndrome (1, A).Question 10: What are the principles and procedures for PAP titration?Recommendation 10: PAP pressure titration is recommended before initiating therapy (1, A). In-laboratory, full-night manual titration during PSG is the gold standard (1, A). For moderate-to-severe OSA, split-night in-laboratory titration or home auto-titration are acceptable alternatives (1, A). Manual titration is preferred over auto-titration in patients with congestive heart failure, severe pulmonary disease, neuromuscular disease, prior uvulopalatopharyngoplasty, need for nocturnal oxygen, or expected desaturation from non-OSA causes (e.g., hypoventilation or central sleep apnea syndromes) (1, A).Question 11: How can adherence to PAP therapy be improved?Recommendation 11: A structured, regular follow-up system is recommended, including telemedicine (remote monitoring, phone/video consultations, AI/smartphone apps) and behavioral or psychosocial interventions (e.g., motivational enhancement therapy, motivational interviewing) (1, A).Question 12: What are the indications for oral appliance therapy?Recommendation 12: Oral appliance therapy is recommended for primary snoring and mild-to-moderate OSA (1, A). It is also recommended as an alternative or adjunct for patients with poor PAP tolerance or adherence (1, A). Custom-made oral appliances are preferred over non-custom devices to improve adherence and effectiveness (1, A).Question 13: What are the indications for oropharyngeal myofunctional therapy?Recommendation 13: Oropharyngeal myofunctional therapy is recommended as an adjunct or combined therapy in patients with OSA (1, A).Question 14: What are the indications for upper airway surgery?Recommendation 14: Upper airway surgery may be considered for adults with significant anatomical abnormalities who are intolerant or nonadherent to PAP therapy, after a careful evaluation of the potential benefits and risks (1, A).Question 15: What are the indications for pharmacological therapy?Recommendation 15: Pharmacological therapy is not recommended as routine treatment for all adults with OSA (1, A). It may be considered as adjunctive treatment for specific phenotypes or treatable traits such as EDS, insomnia, or obesity, with appropriate patient selection (1, B).For OSA-related EDS: After careful clinical evaluation, wake-promoting agents may be considered for patients with OSA-related EDS who meet one or more of the following criteria: 1. Residual EDS despite adequate and adherent standard OSA therapy (including CPAP, oral appliance therapy, or surgery), with other causes of EDS excluded; 2. Presence of EDS in patients who refuse, are intolerant of, or are nonadherent to standard OSA therapy; 3. EDS that substantially impairs quality of life, interferes with work or study, or significantly increases the risk of traffic or occupational accidents (e.g., documented accidents or near-miss events)(Expert consensus; no grading). For patients with residual EDS despite adequate and adherent OSA therapy, treatment with solriamfetol or modafinil is recommended to improve daytime sleepiness (1, A). For patients with EDS who refuse or cannot tolerate standard OSA therapy, individualized treatment with solriamfetol is recommended (1, A), while modafinil may be considered (2, B). During pharmacologic treatment, continued counseling and encouragement to initiate or resume standard OSA therapy are recommended.For COMISA: With attention to interindividual variability in treatment response, short-term use of non-benzodiazepine hypnotic agents may be considered to improve insomnia symptoms (1, B). When non-benzodiazepine hypnotics are deemed necessary, they should be used under close monitoring or in combination with CPAP therapy (1, B). Benzodiazepines are not recommended for the treatment of COMISA (1, A).For OSA with obesity: For patients with moderate-to-severe OSA complicated by obesity, who have not achieved adequate control despite structured weight-management interventions (including dietary modifications and exercise), treatment with dual GIP/GLP-1 receptor agonists (e.g., tirzepatide) may be considered as an adjunctive therapy (1, A).Question 16: How can phenotype-and endotype-based evaluation guide individualized treatment?Recommendation 16: An individualized treatment strategy based on OSA phenotypes and endotypes may be considered in adults with OSA (1, B).Question 17: How should long-term follow-up of adults with OSA be planned?Recommendation 17: Follow-up should assess symptoms, sleep-related quality of life, patient-reported sleep quality, treatment adherence, adverse events, and patient/family satisfaction (1, A). Tools may include questionnaires (ESS, PSQI, SF) and objective tests (PSG, HSAT, pulse oximetry, MSLT, MWT) (1, A). Follow-up intervals should be tailored to the treatment; for PAP therapy, visits at 1 week, 1 month, and 3 months are recommended, and then every 6-12 months if stable (1, A).Question 18: What are the major applications of telemedicine in comprehensive OSA management?Recommendation 18: Telemedicine is valuable for remote diagnosis, treatment, and follow-up. It is recommended to improve PAP adherence (1, A). Remote diagnostic pathways combining HSAT with electronic questionnaires may be considered (2, B). Quality control measures should be implemented to ensure safety and effectiveness (1, A). 阻塞性睡眠呼吸暂停（OSA）是一种常见的睡眠呼吸疾病，其患病率高，社会医疗负担重。此前，2011年版我国成人OSA相关指南主要基于专家经验和共识形成，为临床实践提供了重要参考，但随着循证医学研究的不断积累，既往以专家共识为主的指南模式已难以充分满足当前临床决策需求。为进一步规范我国成人OSA患者的筛查、诊断、治疗及疾病管理，中华医学会呼吸病学分会睡眠呼吸障碍学组基于当前可获得的最佳证据，参考指南研究与评价方法（AGREE Ⅱ）并按照卫生保健实践指南的报告条目（RIGHT）就前期调研形成的18个临床问题进行充分的讨论并给出了详细的推荐意见和相关证据，旨在为成人OSA的规范诊治提供临床决策支持。.

Macroglossia is a hallmark feature of Beckwith-Wiedemann Syndrome (BWS) and may affect a child's appearance, speech, and feeding. Tongue reduction surgery (TRS) is often recommended to address functional concerns, but its effects on patient-reported speech outcomes remain unclear. This study evaluates self-reported speech outcomes in individuals with BWS. Patients with BWS (aged 4-18 years) were prospectively administered the FACE-Q Craniofacial measures (speech distress, breathing, eating and drinking, facial function, speech function). Surveys were Rasch transformed score (0-100, 100=best outcome). Clinical characteristics, BWS Index of Macroglossia (BIG), and Intelligibility in Context Scale (ICS) scores were reviewed. Thirty-six patients (50% male; mean age 8.6±3.8 years at survey) were included. Most patients had an IC2-LOM genetic diagnosis (n=24, 66.6%). Average BIG score was 1.3±1.1 (range 0-3). Speech therapy was received by 28 patients (77.8%) and 16 (44.4%) underwent TRS at mean age 2.3±2.0 years. FACE-Q scores averaged 84.7±15.0 for speech distress, 84.9±15.0 for breathing, 80.9±15.9 for eating and drinking, 92.0±12.1 for facial function, and 75.8±19.5 for speech function. There was moderate correlation between ICS score and speech function (r=0.697, p=0.001). Patients who received speech therapy at school and clinically had lower speech function (p=0.014). No significant differences were found between surgical and non-surgical patients or by BIG scores (p>0.1). While overall reported outcomes were favorable, speech function scores were lower, suggesting persistent speech challenges in this population. These findings underscore the multifactorial nature of speech development in BWS and the importance of individualized, longitudinal management to optimize outcomes.

Obstructive sleep apnea (OSA) is a prevalent pediatric disorder that, if untreated, can result in substantial developmental and health consequences. Tongue reduction procedures, such as midline posterior glossectomy (MPG), are increasingly used to address tongue base obstruction. This systematic review evaluates the effectiveness and safety of tongue reduction procedures for pediatric OSA. Embase, PubMed, and Web of Science databases were queried for studies from inception to September 20, 2023. Studies reporting on outcomes of pediatric patients (≤21 years) undergoing tongue reduction surgery for OSA were included. From 477 abstracts, 9 studies met the inclusion criteria, representing 146 pediatric patients. Surgical techniques included MPG, transoral robotic-assisted tongue base resection, and keyhole partial glossectomy. Primary outcomes assessed were apnea-hypopnea index (AHI), minimum oxygen saturation, and adverse events. All studies reported a reduction in AHI and increased minimum oxygen saturation following tongue reduction despite the method. Adverse events appear to be rare but included postoperative bleeding, need for reintubation, and wound dehiscence. Tongue reduction procedures appear to be safe and effective for managing pediatric OSA, improving key clinical outcomes. However, long-term results, comparative studies of surgical techniques, and refined patient selection criteria are needed. Future research should also identify risk factors for persistent OSA following tongue base reduction. These findings suggest that tongue reduction is a valuable addition to the treatment arsenal for pediatric OSA.

Obstructive sleep apnea-hypopnea syndrome (OSAHS) is frequent in children with Down Syndrome (DS), associated with anatomical characteristics such as midfacial hypoplasia, macroglossia, and hypotonia. It represents a frequent cause of morbidity and mortality among children with DS. Early identification of OSAHS in the DS population is essential, as untreated sleep breathing disorders are linked to severe complications, including pulmonary hypertension. Consequently, guidelines, such as the Health Supervision for Children with Down Syndrome from the American Academy of Pediatrics, recommend polysomnography (PSG) for all children with DS before age 4. This case-control study examined the profile of OSAHS in 124 patients with DS under 13 years of age who were treated at a tertiary care institution in northeastern Colombia from 2012 to 2023. Of the 124 patients, 19 (15.3%) were diagnosed with OSAHS. The only significant association identified was with place of residence, related to the fact that individuals (not patients) living in the city or its metropolitan area have greater access to PSG. Our observed frequency is lower than previously reported in the literature, indicating possible systematic underdiagnosis. Socioeconomic status and access to diagnostic evaluation, rather than clinical characteristics, appear to be the primary determinants for receiving a diagnosis. Expanding access to PSG, particularly in rural and low-income regions, and prioritizing universal screening in clinical protocols over symptom-based referral are essential steps.