Archives of Endocrinology Metabolism最新文献

Over the past year, three new key guidelines have been published in the area of female hypogonadism, one from the Society for Endocrinology covering the full spectrum of causes of female hypogonadism in adult life, which will form the core of this review; another solely covering premature ovarian insufficiency from a consortium comprising the International Menopause Society (IMS), the European Society of Human Reproduction & Embryology (ESHRE) and the American Society for Reproductive Medicine (ASRM) that updates the 2016 ESHRE guidance, and a third covering Turner syndrome across all stages of life from the International Turner Syndrome Consensus Group. In this review, we aim to synthesize the key elements from all of these documents, providing a timely update for clinicians managing affected women.

The separation of the interior from the exterior environment through the skin was fundamental for the evolutionary progression from prevertebrates into vertebrates. The development of the skin also established an internal environment controlled by hormones. The skin is influenced by different hormones; it is also the largest endocrine organ, producing several hormones. Skin inspections often save lives from skin cancer but can also diagnose potentially deadly endocrine diseases. The objectives of this review were to describe the emergence and definition of dermatoendocrinology and to focus on the clinical diagnosis of cutaneous manifestations of endocrine disorders, some of which are potentially fatal. This narrative review was based on a comprehensive search using the term "dermatoendocrinology" since its creation in 2001 in the PubMed® database. Subsequently, a complementary search was performed with combinations of the keywords "skin", "insulin", "diabetes", "thyroid", "adrenal", "sex hormones", "parathyroid hormone", and "growth hormone." A total of 111 articles were included. The cutaneous manifestations of Itabaianinha syndrome (isolated growth hormone deficiency) and five anecdotal cases that enabled life-saving therapeutic measures are reported. The dermatoendocrine conditions described include acanthosis nigricans and androgenetic alopecia (insulin resistance), necrobiosis lipoidica diabeticorum and granuloma annulare (diabetes), pretibial myxedema (hyperthyroidism), xerosis cutis (hypothyroidism), purple striae and facial plethora (hypercortisolism), hyperpigmentation (primary adrenal insufficiency), dryness and urogenital atrophy (hypoestrogenism), hirsutism and virilization (hyperandrogenism), pruritus and calcium deposition (hyperparathyroidism), thinness, wrinkling, and reduced sweating (growth hormone deficiency), and thick oily skin with excessive sweating (acromegaly). Skin inspection allows the diagnosis of serious endocrinopathies.

The recently proposed cardio-kidney-metabolic (CKM) framework underscores the interconnected nature of cardiovascular, renal, and metabolic diseases and represents an important step toward preventive, integrated care. However, its application in kidney care remains limited and dependent on additional supportive evidence. Chronic kidney disease (CKD) is often underrecognized in cardiovascular risk models and receives delayed attention within the CKM pathway. Nephrologists face unique challenges - including workforce shortages, late referrals, and fragmented care systems - particularly in lowand middleincome countries. Early detection is further hindered by the lack of CKD-specific risk assessment tools and limited access to essential diagnostics and therapies. Real-world data from global and national studies highlight substantial implementation gaps, suboptimal outcomes, and the heavy economic burden of delayed CKD management. Importantly, as emphasized by the American Heart Association, implementation of the CKM approach is still under construction and must remain data-driven, ensuring that strategies are grounded in robust evidence. This review offers a nephrology-oriented perspective on the CKM framework, emphasizing the bidirectional relationship between CKD and other CKM components, the prognostic implications of delayed diagnosis, and the need for improved multidisciplinary coordination.

Diabetic autonomic neuropathy (DAN) is a serious and often under-recognized complication of diabetes that can affect any division of the autonomic nervous system (ANS), presenting with a wide range of signs and symptoms. The pathophysiology of DAN involves a complex interplay of hyperglycemia-driven metabolic and vascular pathways, oxidative stress, inflammation, and autonomic imbalance, ultimately leading to progressive nerve dysfunction. Cardiovascular autonomic neuropathy (CAN) has emerged as a particularly severe condition, associated with heightened risk of arrhythmia, silent myocardial ischemia, heart failure, and mortality. DAN, however, extends beyond the cardiovascular system, encompassing gastrointestinal (GI), genitourinary (GU), and sudomotor dysfunctions, that strongly impair quality of life. Despite its impact, DAN remains largely overlooked in clinical practice due to its subclinical onset, non-specific symptoms, and limited routine screening. This review integrates basic, epidemiological, and clinical data to provide a practical understanding of DAN with the aim of helping clinicians to suspect, investigate and manage DAN, with particular attention to its cardiovascular (CV), GI, and GU manifestations.

Substantial evidence highlights the pervasive nature of weight stigma, reported by people of all ages and backgrounds. Weight stigma is experienced across the life course and in many settings across society. These harmful experiences may include verbal and physical behaviours, with long-lasting effects on mental and physical health. They may also impact the patient-practitioner when weight stigma is experienced in a healthcare setting, as well as reducing health seeking behaviour and avoidance of healthcare. It is therefore essential that weight stigma in healthcare is addressed given the important implications of these experiences in this setting, Interventions need to be longer term and given the widespread nature of weight stigma, change is needed throughout society from policy to practice. Thus, a whole system approach to weight stigma is needed to address the entrenched and often robust nature of weight stigma attitudes.

Disorders of pubertal onset and progression are a common cause for referral to paediatric endocrinologists, with delayed puberty in males being particularly frequent. Pubertal development depends on the hypothalamic-pituitary-testicular (HPT) axis, which is established during fetal life and undergoes distinct phases: fetal androgen production, postnatal "minipuberty", and reactivation during adolescence. Key regulators include GnRH neurons, Sertoli and Leydig cells, and biomarkers such as AMH, inhibin B, testosterone and INSL3. Puberty is marked clinically by testicular enlargement beyond 4 mL, usually at a median age of 11.5 years. Delayed puberty is defined as absence of testicular enlargement by age 14. The most common cause is self-limited delayed puberty (SLDP), often familial and benign. Functional hypogonadotropic hypogonadism due to chronic illness, and permanent central hypogonadism (congenital or acquired), account for additional cases. Congenital hypogonadotropic hypogonadism (CHH), including Kallmann syndrome, is frequently genetic, with variants in genes such as FGFR1, ANOS1 and GNRHR. Clinical assessment includes family history, growth patterns, and red flags such as micropenis, cryptorchidism or anosmia.

Cushing's syndrome is a chronic disorder characterized by prolonged glucocorticoid exposure, leading to significant multisystem complications. Multiple epidemiological studies have demonstrated a substantially elevated risk of venous thromboembolism in patients with Cushing's syndrome, including deep vein thrombosis and pulmonary embolism, particularly during active disease, the perioperative period, but more importantly also after biochemical remission. Hypercortisolism promotes a hypercoagulable state through multiple mechanisms, including persistent endothelial dysfunction, increased procoagulant factors such as von Willebrand factor and factor VIII, impaired fibrinolysis, and venous stasis. Additionally, common comorbidities in Cushing's syndrome, such as obesity, hypertension, and diabetes, further amplify thrombotic risk. Given these findings, recent consensus recommends thromboprophylaxis for most patients with Cushing's syndrome, with anticoagulation therapy initiated at diagnosis, continued perioperatively, and extended post-remission when appropriate in patients both after surgery and also in patients on medical therapy. Low molecular weight heparin is the preferred anticoagulant, while direct oral anticoagulants require further investigation in patients with Cushing's syndrome. Despite these recommendations, clinical practice varies significantly across centers and countries, highlighting the need for standardized thromboprophylaxis protocols. Future research should focus on refining risk stratification models, optimizing prophylaxis duration, and evaluating the long-term thrombotic risk in Cushing's syndrome remission. Additionally, studies exploring the safety and efficacy of direct oral anticoagulants and personalized medicine approaches through biomarker-driven strategies may further improve patient outcomes. Addressing these gaps will enhance thromboembolism prevention strategies in Cushing's syndrome and ultimately may reduce morbidity and mortality in this high-risk population.

Thermal ablation (TA) encompasses various options such as radiofrequency ablation (RFA), microwave ablation (MWA), laser ablation (LA), and high-intensity focused ultrasound (HIFU). The fundamental principle of these techniques involves generating heat to induce coagulative necrosis of the nodules. The rising incidence of thyroid nodules, most of which are benign, has highlighted the importance of minimally invasive methods that effectively control symptoms, address cosmetic concerns, and achieve volume reduction. The potential complications associated with surgical interventions have driven the widespread adoption of TA modalities, now used not only for symptomatic benign thyroid nodules (BTN), including autonomously functioning thyroid nodules (AFTN), but also for low-risk papillary thyroid microcarcinoma (PTMC). The evidence presented in this consensus has demonstrated the comparable effectiveness of TA to surgery for BTN in terms of volume reduction percentage (VRP), resolution of symptoms, and cosmetic concerns. Similarly, TA could be considered a suitable option for treating AFTN when surgery or radioactive iodine (RAI) is contraindicated, or when patients decline either of these options, offering a comparable effectiveness profile to RAI in terms of normalizing thyroid-stimulating hormone levels. For PTMC, TA may serve as an alternative for patients at high surgical risk or those who decline surgery, showing comparable outcomes to surgery in terms of local recurrence and lymph node metastasis. Additionally, TA exhibits a superior safety profile compared to surgery or RAI, characterized by reduced complications, preservation of thyroid function, and shorter hospitalization durations. While evidence on cost-effectiveness in Latin America remains limited, studies conducted in other countries support the implementation of TA as a first-line treatment option for BTN. The lack of economic assessment specific to AFTN complicates its consideration as a primary treatment choice; however, the effectiveness and safety profile suggest that the widespread adoption of TA as a first-line therapy could be considered for carefully selected patients diagnosed with AFTN or PTMC. The Surgical Affairs Committee of the Latin American Thyroid Society conducted a comprehensive review of TA as a primary treatment modality for benign, autonomously functioning, and malignant thyroid nodules to ensure its appropriate utilization in the field.

Oxytocin (OXT) is a neuropeptide hormone that plays a central role in numerous physiological and socio-emotional processes. Similar to arginine vasopressin (AVP), it is synthesized in the supraoptic and paraventricular hypothalamic nuclei and released both centrally and peripherally. Peripherally, OXT regulates uterine contractions during childbirth and milk ejection during lactation, metabolism, bone health, and cardiovascular functions. Centrally, it modulates social behavior, influencing trust, empathy, stress regulation, and emotional processing. Despite its close connection to AVP, the clinical significance of OXTDeficiency has only recently gained attention, particularly in patients with hypothalamic or pituitary damage with concomitant AVP-Deficiency. OXT-Deficiency may contribute to various neuropsychological symptoms seen in these patients, including social dysfunction, anxiety disorders, and reduced quality of life. However, a major challenge lies in accurately measuring OXT and thereby diagnosing a potential OXT-Deficiency. Basal plasma levels are unreliable, and most studied provocation tests only stimulate to a limited degree; hence, stronger provocation tests (e.g., using MDMA) and new surrogate parameters such as neurophysin I (NP-I) are gaining traction. Preliminary evidence from case reports and one small study suggests that intranasal OXT administration in patients with hypothalamic disorders may have beneficial effects on social behavior and emotion recognition. However, there is a clear need for larger, well-designed clinical trials, and several trials are currently underway to investigate the therapeutic potential of OXT in patients with AVP-Deficiency. OXT is also being explored as a possible treatment option in psychiatric conditions such as autism spectrum disorder, borderline personality disorder, and social anxiety disorder, with controversial results so far.