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Objectives: Skin changes in acromegaly are often the first sign of the disease. The aim of this study was to describe the cutaneous findings in patients with acromegaly. In addition, a secondary aim was to investigate the possible association of these findings with remission status and concomitant endocrinopathies., Design, Patients, and Measurements: In this prospective multicenter study, 278 patients over the age of 18 years with acromegaly who were followed up in 14 different tertiary healthcare institutions were included. These patients, who were followed up by the Endocrinology Department, were then referred to a dermatologist for dermatological examination. The frequency of skin lesions was investigated by detailed dermatologic examination. Dermatological diagnosis is reached by clinical, dermatological and/or dermoscopic examination, and rarely skin punch biopsy examinations in suspicious cases. The possible association of the skin findings between remitted and nonremitted patients and with concomitant endocrinopathies were evaluated., Results: The most common skin findings in patients with acromegaly in our study were skin tags (52.5%), cherry angiomas (47.4%), seborrhoea (37%), varicose veins (33%), acneiform lesions (28.8%), hyperhidrosis (26.9%) and hypertrichosis (18.3%). Hypertrichosis was significantly more prevalent in patients nonremitted (p: .001), while xerosis cutis was significantly more prevalent in patients remitted (p: .001). The frequency of diabetes mellitus and hypothyroidism was significantly higher in patients with varicose veins and seborrhoeic keratosis than those without. Additionally, the coexistence of hypothyroidism, hyperthyroidism and galactorrhea was significantly higher in patients with Cherry angioma than in those without Cherry angioma (p-values: .024, .034 and .027, respectively). The frequency of hypogonadism in those with xerosis cutis was significantly higher than in those without (p: .035)., Conclusions: Cutaneous androgenization findings such as skin tag, seborrhoea, acne and acanthosis nigricans are common in patients with acromegaly. Clinicians should be aware that skin findings associated with insulin resistance may develop in these patients. It can be said that the remission state in acromegaly has no curative effect on cutaneous findings. Only patients in remission were less likely to have hypertrichosis. This may allow earlier review of the follow-up and treatment of acromegaly patients presenting with complaints of hypertrichosis. Additionally, it can be said that patients with skin findings such as cherry angioma may be predisposed to a second endocrinopathy, especially hypothyroidism. Including dermatology in a multidisciplinary perspective in acromegaly patient management would be beneficial to detect cutaneous findings earlier., (© 2024 John Wiley & Sons Ltd.)

Competing Interests: Disclosures Dr Pessah-Pollack: Advisor for Boehringer Ingelheim/Eli Lilly. Maria Papaleontiou have no conflicts of interest to disclose.

The endocrine system intricately regulates male sexual development and health which influences masculinization, sexual libido, muscle mass, bone density, and overall vitality. Disorders in the hypothalamic-pituitary-gonadal axis can lead to hypogonadism, gynecomastia, sexual dysfunction, and infertility. Testosterone replacement therapy can be considered for symptomatic hypogonadism but poses risks for azoospermia and polycythemia, along with uncertain impact on cardiovascular disease. Gynecomastia results from a high estrogen-to-androgen ratio, mostly from either excess estrogen or decreased androgens. Sexual dysfunction is more commonly secondary to psychological or metabolic disorders; consider workups to rule out endocrine etiologies including hypogonadism if indicated., Competing Interests: Disclosure The authors have nothing to disclose., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Dysphagia is a common manifestation of endocrine and metabolic diseases. Swallowing is a complex neuromuscular process, with an interplay of sensory and motor function, that has voluntary and involuntary control. Disruptions in any of these processes can cause significant dysphagia. Endocrine disorders and metabolic derangements are systemic conditions that affect multiple organ systems. They contribute to the development of neuropathies, myopathies, and motility disorders that lead to swallowing difficulty. Malnutrition and critical illness can lead to deconditioning and atrophy which can cause dysphagia, which in turn can lead to further malnutrition and deconditioning., Competing Interests: Disclosure The authors have no relevant disclosures., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Background: Hypothyroidism is a known risk factor for slipped capital femoral epiphysis (SCFE), and prior studies of hypothyroid-associated SCFE have demonstrated an incidence of up to 6%. However, there is limited evidence and no formal practice guidelines regarding whether patients presenting with SCFE should undergo screening for endocrine disorders. This study aims to investigate the incidence of abnormal thyroid function studies in patients presenting with SCFE., Methods: This was a retrospective review of all patients aged 0 to 18 years treated for SCFE at a single pediatric hospital from January 2015 to July 2022. On presentation, patients' BMI, thyroid-stimulating hormone (TSH), free T4, vitamin D, creatinine, BUN, and HbA1c levels were documented. Follow-up and treatment for any identified endocrinopathies were noted. In addition, the chronicity, stability, and severity of their slips were recorded., Results: Ninety-eight patients with 106 hips were included in this study. TSH was obtained at the time of initial presentation in 66% (n=65/98) of patients. Median TSH was 2.99 (range: 0.02 to 919, std dev: 132.4). The normal reference range for our institution is 0.5 to 4.5 mcIU/mL. Thirty-two percent (n=21/65) of patients with a documented TSH had an abnormal value. Of those patients who had an elevated TSH, 3 were diagnosed with clinical hypothyroidism and went on to treatment with levothyroxine (n=3/19, 16%), 2 patients had been started on levothyroxine before presentation (n=2/19, 11%), and 2 patients were followed in endocrinology clinic until their TSH levels had normalized without further intervention (n=2/19, 11%)., Conclusions: Screening of our SCFE population revealed a 32% incidence of thyroid abnormalities which affected treatment in 24% of those patients. This is a much higher incidence of hypothyroid-associated SCFE than previously demonstrated in the literature and has prompted us to start including thyroid screening studies as a routine part of our workup for all patients with SCFE., Level of Evidence: Level III., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose of Review: Primary mitochondrial diseases are one of the most prevalent groups of multisystem genetic disorders. Endocrinopathies associated with mitochondrial diseases may have clinical features that are distinct from the more common forms. We provide an overview of mitochondrial disorder genetics and phenotypes, focusing on recent studies regarding identification and treatment of associated endocrinopathies., Recent Findings: Known endocrine phenotypes of mitochondrial disorders continue to expand, and now include growth hormone deficiency, hypogonadism, precocious puberty, hypoparathyroidism, hypo- and hyperthyroidism, diabetes, and adrenal insufficiency. Recent studies suggest several genotype-phenotype correlations, including those related to nuclear variants. Diagnosis is important, as special considerations should be made in the management of endocrinopathies in mitochondrial patients. Finally, new mitochondrial replacement strategies may soon be available for women interested in preventing mitochondrial disease transmission to offspring., Summary: Patients with multiple endocrinopathies or atypical endocrinopathies should be evaluated for primary mitochondrial disease, as a diagnosis may impact management of these individuals., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.)

Metabolic-associated fatty liver disease (MAFLD) is a newly coined term that links the presence of liver steatosis (characterised by the accumulation of lipids in at least 5% of liver cells) with a condition of overall systemic metabolic dysfunction. MAFLD impacts 24-36% of the global population. As per the official guidelines, a diagnosis of MAFLD can be made when hepatosteatosis is accompanied by type 2 diabetes mellitus, overweight, obesity, or at least 2 other specific metabolic abnormalities (increased waist circumference, hypertension, dyslipidaemia, prediabetes, elevated C-reactive protein level, or increased homeostasis model assessment of insulin resistance: HOMA-IR). MAFLD is a heterogeneous illness associated with multiple diseases that impact various organs, particularly endocrine organs. Endocrinopathies can significantly influence the progression and severity of MAFLD. This paper provides a brief overview of the existing research on the connection between liver steatosis and the functioning of endocrine organs. The authors also propose dividing endocrine diseases into those having a possible, strong, and clear relationship with hepatosteatosis (for the purpose of preliminary recommendations regarding the need for monitoring the possible progression of MAFLD in these groups of patients).

Myopathies are a common manifestation of endocrine disorders. Endocrine myopathies are often overlooked while considering differential diagnoses in patients with musculoskeletal symptoms. The hindrance to mobility and the musculoskeletal discomfort owing to these myopathies are important causes of disability and depreciated quality of life in these patients. Endocrine myopathies occur due to the effects of endogenous or iatrogenic hormonal imbalance on skeletal muscle protein and glucose metabolism, disrupting the excitation-contraction coupling. Abnormalities of the pituitary, thyroid, parathyroid, adrenal, and gonadal hormones have all been associated with myopathies and musculoskeletal symptoms. Endocrine myopathies can either be the complication of a secondary endocrine disorder or a presenting symptom of a missed underlying disorder. Therefore, an underlying endocrine abnormality must always be excluded in all patients with musculoskeletal symptoms. This review presents a compilation of various endocrine myopathies, their etiopathogenesis, clinical presentation, diagnostic modalities, and treatment protocols., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest. There are no relevant financial or non-financial competing interests to report., (Copyright © 2023. Published by Elsevier Inc.)

In very rare cases of monoclonal gammopathy, insulin-binding paraprotein can cause disabling hypoglycaemia. We report a 67-year-old man re-evaluated for hyperinsulinaemic hypoglycaemia that persisted despite distal pancreatectomy. He had no medical history of diabetes mellitus or autoimmune disease but was being monitored for an IgG kappa monoclonal gammopathy of undetermined significance. On glucose tolerance testing, hyperglycaemia occurred at 60 min (glucose 216 mg/dL) and hypoglycaemia at 300 min (52 mg/dL) concurrent with an apparent plasma insulin concentration of 52 850 pmol/L on immunoassay. Laboratory investigation revealed an IgG2 kappa with very high binding capacity but low affinity (Kd 1.43 × 10-6 mol/L) for insulin. The monoclonal gammopathy was restaged as smouldering myeloma not warranting plasma cell-directed therapy from a haematological standpoint. Plasma exchange reduced paraprotein levels and improved fasting capillary glucose concentrations. Lenalidomide was used to treat disabling hypoglycaemia, successfully depleting paraprotein and leading to resolution of symptoms., Competing Interests: Conflict of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the report. Co-author R.K.S. is on the editorial board of EJE. He was not involved in the review or editorial process for this paper, on which he is listed as an author., (© The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Endocrinology.)

Obesity has become a serious medical condition where many factors can contribute to excess weight gain. The most common type of childhood obesity is simple obesity, which is due to gene-obesogenic environment interaction. Only a minority are due to pathological causes. Secondary causes of obesity, while less common, include these: genetic syndromes, drug-related obesity, as well as endocrine disorders (hypothyroidism, Cushing's syndrome, growth hormone deficiency, hypogonadism, pseudohypoparathyroidism type Ia, insulinoma, hypothalamic obesity and polycystic ovary syndrome). Given that some conditions may be treatable, physicians must be aware of obesity due to endocrinopathies and distinguish them from simple obesity, and treat them properly. Although rare among children, early detection of the endocrine cause of obesity leads to reduced morbidity and, in some cases, reduced mortality in these individuals. The aim of this review is to summarize the current findings on obesity-related endocrinopathies in children (illustrated by clinical examples), highlighting aspects of pathogenetic mechanisms, genetics, the clinical diagnosis, growth, body mass index and possible therapeutic approaches. Early detection and correction of endocrine obesity is of paramount importance for obese children who could benefit from timely diagnosis and an improved management of obesity as many disturbances related to obesity can be reversed at the early stage, if weight loss is achieved., Competing Interests: The authors report no conflicts of interest in this work.

Endocrine diseases are rare and can present very subtly in the neonatal period. Most are diagnosed using newborn screening in the United States; however, some infants may present with false negatives or more subtle findings. Endocrine etiologies should be considered during the management of critically ill infants. This article will give an overview of endocrine emergencies encountered in the neonatal period, including disorders of glucose metabolism, thyroid disorders, adrenal disorders, and pituitary disorders., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Context: Vertebral fractures (VFs) make up an important but challenging group of fractures often caused by osteoporosis. Osteoporotic fractures pose unique diagnostic challenges in generally requiring imaging for diagnosis. The objective of this narrative mini-review is to provide an overview of these recent advances in our knowledge of VF pathophysiology and epidemiology with particular focus on endocrine diseases, prevention, and treatment., Evidence Acquisition: We searched PubMed on May 23, 2022, for studies of VFs in humans. Results were limited to papers available as full-text publications in English, published from 2020 and onward. This yielded 3457 citations. This was supplemented by earlier publications selected to add context to the recent findings., Evidence Synthesis: Studies addressed VF risk in hyperthyreosis, hyperparathyroidism, acromegaly, Cushing syndrome, primary aldosteronism, and diabetes. For pharmaceutical treatment, new studies or analyses were identified for romosozumab and for weekly teriparatide. Several studies, including studies in the immediate pipeline, were intervention studies with vertebroplasty or kyphoplasty, including combination with stem cells or pharmaceuticals., Conclusions: Endocrinologists should be aware of the high likelihood of osteoporotic VFs in patients with endocrine diseases. Though licensed treatments are able to substantially reduce the occurrence of VFs in patients with osteoporosis, the vast majority of recent or ongoing randomized controlled trials in the VF area focus on advanced invasive therapy of the fracture itself., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Objective: The aim was to evaluate the adverse events seen after Coronavirus disease-2019 (COVID-19) vaccination in pediatric patients with diagnosed endocrinological problems and to compare them with healthy controls., Methods: In this cross-sectional study, patients aged 12-18 years who attended a single department between January and May 2022 and were followed up for at least six months due to endocrine diseases, and healthy subjects in the same age group, all of whom had received a COVID-19 vaccine [BNT162b2 mRNA or inactivated vaccine] were included. Adverse events experienced after the vaccination were evaluated by questionnaire., Results: A total of 160 subjects (85 patients, 75 healthy controls) with a median (25-75p) age of 15.5 (14.1-16.9) years were included. The frequency of adverse events was higher in those vaccinated with the mRNA vaccine compared to the inactivated one after the first dose (p=0.015). The incidence of adverse events observed after the first and second doses of both COVID-19 vaccines was similar in the patient and control groups (p=0.879 and p=0.495, respectively), with local reactions being the most common. The frequency of adverse events was similar among the patients who did or did not receive any endocrinological treatment (p>0.05). The incidence and severity of systemic reactions were similar to those in healthy subjects for both vaccine doses, regardless of the underlying diagnosis, autoimmunity state, or treatment regimen used in patients with endocrine diseases., Conclusion: The incidence and severity of adverse events associated with COVID-19 vaccinations in adolescents with endocrinological disorders were similar to healthy subjects, in the early post-vaccination period.

Objective: Previous studies have found that neurofibromatosis 1 (NF1) is associated with an increased risk for endocrine disorders, but no comprehensive overview of the risk for specific endocrine disorders has been published. We assessed endocrine morbidity in individuals with NF1 from information on hospital admissions, surgery for endocrine disorders, and relevant medication., Design: A nationwide population registry-based cohort study., Methods: We identified 2467 individuals with NF1 diagnosed between 1977 and 2013 from the Danish National Patient Register and the RAREDIS database and 20 132 randomly sampled age- and sex-matched population comparisons. Information on endocrine diseases was identified using registrations of discharge diagnoses, surgery, and medication prescriptions. The rates of endocrine disorders in individuals with NF1 were compared with those in the comparison cohort in Cox proportional hazard models., Results: Individuals with NF1 had a higher rate than the comparison group of any endocrine discharge diagnosis (hazard ratio [HR] 1.72, 95% confidence interval [CI]: 1.58-1.87), endocrine-related surgery (2.03, 1.39-2.96), and prescribed medications (1.32, 1.23-1.42). Increased HRs were observed for diseases and surgical operations of several glands, including pheochromocytoma, and for osteoporosis, and osteoporotic fractures. Decreased rates were observed with drugs for type 2 diabetes. Women with NF1 had higher HRs for surgery of the ovaries, uterus, and sterilization, but lower rates of surgeries of cervix and prescriptions for birth control pills., Conclusions: Neurofibromatosis 1 is associated with a variety of endocrine disorders, surgery, and medication related to endocrine disease. Awareness of endocrine morbidity is important in the clinical follow-up of individuals with NF1., (© The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Purpose of Review: The aim of this short review is to provide an update on glucose homeostasis, insulin secretion and pharmacological management of osteoporosis in transfusion-dependent thalassemia (TDT)., Recent Findings: A retrospective study, documenting the changes in glucose-insulin homeostasis from early childhood to young adulthood, has advanced our understanding of the evolution of glucose regulation in patients with TDT. Magnetic Resonance Imaging (T2* MRI) is considered to be a reliable tool to measure pancreatic iron overload. Continuous glucose monitoring systems (CGMS) can be used in early diagnosis of glucose dysregulation and in disease management in patients with already diagnosed diabetes. Oral glucose-lowering agents (GLAs) are effective and safe for the treatment of diabetes mellitus (DM) in patients with TDT, achieving adequate glycemic control for a substantial period of time. Current modalities for the management of osteoporosis in adults with TDT include inhibitors of bone remodeling such as bisphosphonates and denosumab as well as stimulators of bone formation (e.g., teriparatide), Considering the unique characteristics of osteoporosis associated with TDT, early diagnosis, treatment initiation and treatment duration are critical issues in the management this special population., Conclusions: Advances in the care of TDT patients  have led to improved survival and quality of life. Nevertheless, many chronic endocrine complications still remain. Their routine screening and a high index of suspicion are imperative in order to provide timely diagnosis and  treatment.

Objective: This article provides an overview of the neurologic complications of the most prevalent endocrine disorders in adults with an emphasis on relevant neurologic symptoms, signs, and laboratory and neuroimaging findings., Latest Developments: Although the mechanisms of many of the neurologic complications discussed here remain unclear, our understanding of the impacts of diabetes and hypothyroidism on the nervous system and muscle, including complications of rapid correction of chronic hyperglycemia, has advanced in recent years. Recent large studies have not demonstrated a convincing association between subclinical or overt hypothyroidism and cognitive decline., Essential Points: Neurologists must become familiar with the neurologic complications of endocrine disorders not only because they are common and treatable (and often reversible) but also because they may be iatrogenic, as is the case with adrenal insufficiency in the setting of long-term corticosteroid therapy., (Copyright © 2023 American Academy of Neurology.)

McCune-Albright Syndrome (MAS) is a rare mosaic (post-zygotic) genetic disorder presenting with a broad continuum clinical spectrum. MAS arises from somatic, activating mutations in the GNAS gene, which induces a dysregulated Gsα-protein signaling in several tissues and an increased production of intracellular cyclic adenosine monophosphate (cAMP). Overall, MAS is a rare disorder affecting less than 1/100,000 children and, for this reason, data establishing genotype-phenotype correlations remain limited. Affected individuals clinically present with a variable combination of fibrous dysplasia of bone (FD), extra-skeletal manifestations (including cafeí-au-lait spots) and precocious puberty which might also be associated to broad hyperfunctioning endocrinopathies, and also gastrointestinal and cardiological involvement. Central nervous system (CNS) and eye involvement in MAS are among the less frequently described complications and remain largely uncharacterized. These rare complications mainly include neurodevelopmental abnormalities ( e.g ., delayed motor development, cognitive and language impairment), CNS anomalies ( e.g ., Chiari malformation type I) and a wide array of ophthalmological abnormalities often associated with vision loss. The pathophysiological mechanisms underlying abnormal neurological development have not been yet fully elucidated. The proposed mechanisms include a deleterious impact of chronically dysregulated Gsα-protein signaling on neurological function, or a secondary (damaging) effect of (antenatal and/or early postnatal) hypercortisolism on early pre- and post-natal CNS development. In this Review, we summarize the main neurological and ophthalmological features eventually associated with the MAS spectrum, also providing a detailed overview of the potential pathophysiological mechanisms underlying these clinical complications., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Mascioli, Iapadre, Ingrosso, Donato, Giannini, Salpietro, Chiarelli and Farello.)

Endocrine diseases may be associated with dyslipidaemia and may increase atherosclerotic cardiovascular disease (ASCVD) risk. This chapter describes changes in lipids and lipoproteins in diseases of the pituitary, thyroid, adrenal glands, ovaries, and testes, the mechanisms for these changes, ASCVD risk in these endocrine disorders, and whether treatment of the endocrine disorder improves the lipid profile and reduces ASCVD risk. Acromegaly, GH deficiency, Cushing syndrome, chronic glucocorticoid replacement, hypothyroidism, PCOS and male hypogonadism can increase LDL-C and/or TG. Marked reductions in LDL-C are associated with hyperthyroidism, and extremely low HDL-C levels with testosterone and/or other anabolic steroid abuse. Acromegaly, GH deficiency, Cushing syndrome, and chronic glucocorticoid replacement are associated with increased ASCVD risk. Treatment of acromegaly, GH deficiency, hypothyroidism, Cushing syndrome, and testosterone deficiency reduce LDL-C, although statin therapy may still be needed. Effects on ASCVD are not known., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

It is estimated that more and more couples suffer from fertility and pregnancy maintenance disorders. It is associated with impaired androgen secretion, which is influenced by many factors, ranging from genetic to environmental. It is also important to remember that fertility disorders can also result from abnormal anatomy of the reproductive male and female organ (congenital uterine anomalies - septate, unicornuate, bicornuate uterus; acquired defects of the uterus structure - fibroids, polyps, hypertrophy), disturbed hormonal cycle and obstruction of the fallopian tubes resulting from the presence of adhesions due to inflammation, endometriosis, and surgery, abnormal rhythm of menstrual bleeding, the abnormal concentration of hormones. There are many relationships between the endocrine organs, leading to a chain reaction when one of them fails to function properly. Conditions in which the immune system is involved, including infections and autoimmune diseases, also affect fertility. The form of treatment depends on infertility duration and the patient's age. It includes ovulation stimulation with clomiphene citrate or gonadotropins, metformin use, and weight loss interventions. Since so many different factors affect fertility, it is important to correctly diagnose what is causing the problem and to modify the treatment regimen if necessary. This review describes disturbances in the hormone secretion of individual endocrine organs in the context of fertility and the maintenance of pregnancy., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Bendarska-Czerwińska, Zmarzły, Morawiec, Panfil, Bryś, Czarniecka, Ostenda, Dziobek, Sagan, Boroń, Michalski, Pallazo-Michalska and Grabarek.)

Background: Optic pathway gliomas (OPGs) are classified by anatomic location and the association with neurofibromatosis type 1 (NF1). Children with OPGs face sequelae related to tumor location and treatment modalities. We assessed the prevalence of endocrine dysfunction in children with OPGs and compared outcomes between those with and without NF1., Methods: We performed a retrospective medical record review of medical history, and clinical and laboratory data, of children diagnosed with OPGs (n = 59, 61% with NF1) during 1990-2020, followed at a tertiary endocrine clinic. Growth and puberty parameters and occurrence of endocrine dysfunction were evaluated., Results: Isolated optic nerve involvement was higher among patients with than without NF1. Patients without NF1 were younger at OPG diagnosis and more often treated with debulking surgery or chemotherapy. At the last endocrine evaluation, patients without NF1 had comparable height SDS, higher BMI SDS, and a higher rate of endocrine complications (78.3% vs. 41.7%, p = 0.006). Younger age at diagnosis, older age at last evaluation, and certain OPG locations were associated with increased endocrine disorder incidence., Conclusions: Endocrine dysfunction was more common in patients without NF1; this may be related to younger age at presentation, tumor locations, a greater progressive rate, and more aggressive treatments., Impact: The literature is sparse regarding sporadic OPGs, and the mean duration of follow-up is shorter than at our study. Our data show a higher rate of endocrine dysfunction in patients with OPGs than previously described. We also found a higher prevalence of endocrine dysfunctions among patients without compared to those with NF-1. A better understanding of the true prevalence of endocrine disabilities that may evolve along time can help in guiding physicians in the surveillance needed in patients with OPG., (© 2022. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc.)

Mathematical modeling has provided quantitative information consistent with experimental data, greatly improving our understanding of the progression of type 1 and type 2 diabetes. However, diabetes is a complex metabolic disease and has been found to be involved in crosstalk interactions with diverse endocrine diseases. Mathematical models have also been developed to investigate the quantitative impact of various hormonal disorders on glucose imbalance, advancing the precision treatment for secondary diabetes. Here we review the models established for the study of dysglycemia induced by hormonal disorders, such as excessive glucocorticoids, epinephrine, and growth hormone. To investigate the influence of hyperthyroidism on the glucose regulatory system, we also propose a hyperthyroid-diabetes progression model. Model simulations indicate that timely thyroid treatment can halt the progression of hyperglycemia and prevent beta-cell failure. This highlights the diagnosis of hormonal disorders, together withblood sugar tests, as significant measures for the early diagnosis and treatment of diabetes. The work recapitulates updated biological research on the interactions between the glucose regulatory system and other endocrine axes. Further mathematical modeling of secondary diabetes is desired to promote the quantitative study of the disease and the development of individualized diabetic therapies., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Yang, Li, Haller, Schatz and Rong.)

Most endocrine disorders are chronic in nature, and thus even a minor effect to increase risk for cardiovascular disease can lead to a significant impact over prolonged duration. Although robust therapies exist for many endocrine disorders (eg suppression of excess hormone amounts, or replacement of hormone deficiencies), the therapies do not perfectly restore normal physiology. Thus, individuals with endocrine disorders are at potential increased cardiovascular disease risk, and maximizing strategies to reduce that risk are needed. This article reviews various endocrine conditions that can impact lipid levels and/or cardiovascular disease risk., Competing Interests: Disclosure Dr L.R. Tannock has no conflicts to disclose., (Published by Elsevier Inc.)

In the aftermath of the corona pandemic, long-COVID or post-acute COVID-19 syndrome still represents a great challenge, and this topic will continue to represent a significant health problem in the coming years. At present, the impact of long-COVID on our health system cannot be fully assessed but according to current studies, up to 40% of people who have been infected with SARS-CoV-2 suffer from clinically relevant symptoms of long-COVID syndrome several weeks to months after the acute phase. The main symptoms are chronic fatigue, dyspnea, and various cognitive symptoms. Initial studies have shown that people with overweight and diabetes mellitus have a higher risk of developing long-COVID associated symptoms. Furthermore, repeated treatment of acute COVID-19 and long-COVID with steroids can contribute to long-term metabolic and endocrine disorders. Therefore, a structured program with rehabilitation and physical activity as well as optimal dietary management is of utmost importance, especially for patients with metabolic diseases and/or long-COVID. Furthermore, the removal of autoantibodies and specific therapeutic apheresis procedures could lead to a significant improvement in the symptoms of long-COVID in individual patients., Competing Interests: The authors declare that they have no conflict of interest., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).)

Objectives: To validate adult height predictions (BX) using automated and Greulich-Pyle bone age determinations in children with chronic endocrine diseases., Methods: Heights and near-adult heights were measured in 82 patients (48 females) with chronic endocrinopathies at the age of 10.45 ± 2.12 y and at time of transition to adult care (17.98 ± 3.02 y). Further, bone age (BA) was assessed using the conventional Greulich-Pyle (GP) method by three experts, and by BoneXpert™. PAH were calculated using conventional BP tables and BoneXpert™., Results: The conventional and the automated BA determinations revealed a mean difference of 0.25 ± 0.72 y (p = 0.0027). The automated PAH by BoneXpert™ were 156.26 ± 0.86 cm (SDS - 2.01 ± 1.07) in females and 171.75 ± 1.6 cm (SDS - 1.29 ± 1.06) in males, compared to 153.95 ± 1.12 cm (SDS - 2.56 ± 1.5) in females and 169.31 ± 1.6 cm (SDS - 1.66 ± 1.56) in males by conventional BP, respectively and in comparison to near-adult heights 156.38 ± 5.84 cm (SDS - 1.91 ± 1.15) in females and 168.94 ± 8.18 cm (SDS - 1.72 ± 1.22) in males, respectively., Conclusion: BA ratings and adult height predictions by BoneXpert™ in children with chronic endocrinopathies abolish rater-dependent variability and enhance reproducibility of estimates thereby refining care in growth disorders. Conventional methods may outperform automated analyses in specific cases., (© 2022. The Author(s).)

Endocrine emergencies are underdiagnosed and often overlooked amid the management of severe multisystem pathologies in critically ill patients in the medical intensive care unit (ICU). In an appropriate clinical scenario, a low threshold of suspicion should be kept to investigate for various life-threatening, yet completely treatable, endocrinopathies. Prompt identification and treatment of endocrine emergencies such as diabetic ketoacidosis, myxedema coma, thyroid storm, and/or adrenal insufficiency leads to fewer complications, shorter ICU and hospital stay, and improved survival. This review article entails common endocrine emergencies encountered in the ICU and addresses their epidemiology, pathophysiology, clinical presentation and management., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Specific antibody responses to subfornical organs, including Na x antibody, have been reported in patients with adipsic hypernatremia of unknown etiology who do not have structural lesions in the hypothalamic-pituitary gland. The subfornical organ, also referred to as the window of the brain, is a sensing site that monitors sodium and osmotic pressure levels. On the other hand, ROHHAD syndrome is a rare disease for which the etiology of the hypothalamic disorder is unknown, and there have been some reports in recent years describing its association with autoimmune mechanisms. In addition, abnormal Na levels, including hypernatremia, are likely to occur in this syndrome. When comparing the clinical features of adipsic hypernatremia due to autoimmune mechanisms and ROHHAD syndrome, there are similar hypothalamic-pituitary dysfunction symptoms in addition to abnormal Na levels. Since clinical diagnoses of autoimmunological adipsic hypernatremia and ROHAD syndrome might overlap, we need to understand the essential etiology and carry out precise assessments to accurately diagnose patients and provide effective treatment. In this review, I review the literature on the autoimmune mechanism reported in recent years and describe the findings obtained so far and future directions.

Objective: This study aims to determine the prevalence of metabolic disturbance in all fracture nonunion cases and identify the most common endocrine abnormalities seen using a simple screening algorithm., Methods: A retrospective review study was performed evaluating patients who underwent operative intervention for nonunion from January 2010 to December 2018 at 2 level-1 trauma centers. Preoperative laboratory values were recorded for a 9-test "nonunion panel." A metabolic or endocrine abnormality, specifically an abnormality in the thyroid or parathyroid axis, was evaluated., Results: 42% of patients had an undiagnosed metabolic laboratory abnormality. When multiple tests were used, the rate of metabolic dysfunction was between 60% and 75%, depending on the definition of vitamin D insufficiency vs deficiency used., Conclusion: Results indicate a relatively high prevalence of metabolic disturbance in patients with nonunion and suggest metabolic screening for all nonunion patients not only those without a mechanical or infectious cause., Level of Evidence: IV, retrospective case series., (Copyright © 2022 AACE. Published by Elsevier Inc. All rights reserved.)

Metabolic syndrome (MetS) is a highly prevalent condition among adult males, affecting up to 41% of men in Europe. It is characterized by the association of obesity, hypertension, and atherogenic dyslipidemia, which lead to premature morbidity and mortality due to cardiovascular disease (CVD). Male infertility is another common condition which accounts for about 50% of cases of couple infertility worldwide. Interestingly, male infertility and MetS shares several risk factors (e.g., smoking, ageing, physical inactivity, and excessive alcohol consumption), leading to reactive oxygen species (ROS) production and increased oxidative stress (OS), and resulting in endothelial dysfunction and altered semen quality. Thus, the present narrative review aims to discuss the pathophysiological mechanisms which link male infertility and MetS and to investigate the latest available evidence on the reproductive consequences of MetS.

Paraneoplastic syndromes denote rare but notable phenomena caused by the tumour mediated release of bioactive substances. Peptide and non-peptide hormone causes are explored with a particular focus on pathogenesis, symptoms, diagnosis and treatment. Early detection and management of paraneoplastic syndromes can improve morbidly and mortality; definitive treatment remains effective surgical or anti-tumour therapies. Pituitary autoimmunity may provide a novel presentation of paraneoplastic syndromes for which further research is warranted., Competing Interests: Declaration of competing interest The authors of this manuscript have nothing to declare., (Copyright © 2022 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-related injury to the hypothalamus, most commonly associated with rare, non-cancerous parasellar masses, such as craniopharyngiomas, germ cell tumours, gliomas, cysts of Rathke's pouch and Langerhans cell histiocytosis, as well as with genetic neurodevelopmental syndromes, such as Prader-Willi syndrome and septo-optic dysplasia. HS is characterized by intractable weight gain associated with severe morbid obesity, multiple endocrine abnormalities and memory impairment, attention deficit and reduced impulse control as well as increased risk of cardiovascular and metabolic disorders. Currently, there is no cure for this condition but treatments for general obesity are often used in patients with HS, including surgery, medication and counselling. However, these are mostly ineffective and no medications that are specifically approved for the treatment of HS are available. Specific challenges in HS are because the syndrome represents an adverse effect of different diseases, and that diagnostic criteria, aetiology, pathogenesis and management of HS are not completely defined., (© 2022. Springer Nature Limited.)

As a secondary endocrine organ, the liver is closely related to the endocrine system. Liver involvement is not uncommon in endocrine diseases, such as hyper/hypothyroidism, diabetes, dysfunction of adrenal and gonadal. It can be manifested in a variety of forms, including hepatocyte injury (elevated transaminase), bile duct injury (cholestasis), hepatocyte steatosis, vascular injury and liver tumor. Direct and indirect liver injury caused by abnormal hormone levels and side effects of drugs for the treatment of endocrine diseases are common pathogenesis. In addition, endocrine diseases can be concomitant with liver diseases, such as autoimmune thyroiditis and autoimmune hepatitis. Systemic diseases can also involve the endocrine system and liver at the same time, such as systemic lupus erythematosus and IgG4 related diseases. For patients with unexplained liver injury, endocrine system diseases should be considered as the differential diagnosis.

Background: Endocrine disorders are common in patients with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to elucidate the clinical manifestations of endocrine disorders, including parathyroid, thyroid and growth disorders, in Taiwanese patients with 22q11.2DS., Methods: From 1994 to 2020, the medical records of 138 patients with 22q11.2DS diagnosed at a tertiary referral medical center in Taiwan were thoroughly reviewed retrospectively., Results: Hypocalcemia was detected in 57 of 135 patients (42%); 33 of 104 patients (32%) had hypoparathyroidism, and in 87% of them, hypocalcemia was detected before the age of one. Most patients had precipitating stressors during symptomatic hypocalcemic episodes. Eighteen of 29 patients had overt hypoparathyroidism at the last visit: 11 had persistent hypoparathyroidism and the other seven had recurrent hypoparathyroidism. Four of 84 patients had thyroid disorders, including thyroid developmental anomalies in two, dyshormonogenesis in one and Graves' disease in one. Fifty of 126 patients (40%) had short stature. Age (odds ratio (OR) 0.91; 95% confidence interval (CI) 0.86-0.96; P <0.001) and airway anomalies (OR 2.75; 95% CI 1.04-7.31; P <0.05) were significant risk factors for short stature in multivariate logistic regression model. Twenty-eight of the 30 patients with airway anomalies were associated with severe congenital heart disease. Adult height standard deviation score (SDS) in 19 patients was significantly lower than target height SDS (-1.15 ± 0.90 vs -0.08 ± 0.65, P <0.001)., Conclusions: Hypoparathyroidism is a common endocrine disorder in patients with 22q11.2DS. It is prudent to assess parathyroid function at diagnosis and during follow-up, especially in the presence of stress, to prevent symptomatic hypocalcemia. Although thyroid disorders are not so common as hypoparathyroidism, screening of thyroid dysfunction is justified in these patients. Patients with 22q11.2DS demonstrate a retarded growth pattern with a tendency of catch-up and regular monitoring of growth is indicated., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Lin, Tsai, Tung, Liu, Lee, Chien, Hwu and Lee.)

Endocrinopathic laminitis is the most common cause of laminitis in the field. Insulin has recently been implicated as a key factor in development of endocrinopathic laminitis; however, it is unclear whether diagnostic, and treatment approaches reflect insights derived from recent research. This study sought to evaluate North American veterinary practitioners' approach to endocrinopathic laminitis in the field. Demographic information, approach to diagnosis, management, and prognosis of endocrinopathic laminitis, as well as factors influencing changes in approach to laminitis were collected. To compare regional differences in approach to laminitis, results were compared to a recently published study from the United Kingdom. Findings of the present study suggest that North American practitioners have changed their approach to laminitis to more readily incorporate diagnostic testing for endocrine disease., (Copyright © 2021. Published by Elsevier Inc.)

Hormonal regulation plays a key role in determining bone mass in humans. Both skeletal growth and bone loss in health and disease is critically controlled by endocrine factors and low bone mass is a feature of both excess and deficiency of a broad range of hormones. This article explores the impact of diabetes and thyroid, parathyroid, sex steroid and growth hormone disorders on bone mass and fracture risk. Evidence for current management strategies is provided along with suggested practice points and gaps in knowledge for future research., Competing Interests: Declaration of competing interest Bo Abrahamsen: Institutional research grants from UCB, Kyowa-Kirin, Pharmacosmos and Novartis. Consulting or speakers fees UCB, Kyowa-Kirin, Pharmacosmos, Gedeon Richter. Claire Higham: None., (Copyright © 2022 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Endocrinopathies are prevalent diseases that typically affect multiple organs, and the eye and orbital tissues are often involved in endocrine disorders. Some conditions, such as diabetes and thyroid gland dysfunction, may cause serious eye pathology and even blindness. A clear insight into the pathogenesis of endocrinopathies and their ocular manifestations would enhance preventive and therapeutic measures and reduce the incidence of sight-threatening complications. This review discusses the ocular manifestations of several endocrine disorders that eye care providers are likely to encounter in clinical practice.

Dysphonia is a symptom of many endocrine pathologies. Hoarseness, voice fatigue, decrease of the voice pitch, reduce of the range are typical complaints for hypothyroidism, caused by an increased amount of polysaccharides and accumulation of fluid in the lamina propria of the vocal folds. An excess of growth hormone causes an overproduction of insulin-like growth factor-1, which leads to abnormalities in the craniofacial region and proliferation of the upper respiratory tract tissues, including thickening of the laryngeal cartilages, vocal folds and decreasing of the voice pitch. Hyperglycemia, changes in the balance of fluid and electrolytes in diabetes mellitus can indirectly affect the voice: xerostomia complicates phonation due to impaired hydration of the laryngeal mucosa, diabetic neuropathy often disrupts the work of the laryngeal muscles involved in voice formation. Voice changes are observed not only in endocrine disorders, but also during puberty, the phases of the menstrual cycle and during menopause. Laryngeal structures are modified under the influence of hormones and external factors, which generally changes pitch and intensity of the voice, timbre and resonance, articulation and prosodic characteristics. The purpose of this review is to summarize and systematize data on physiological and pathological voice changes in patients of different age groups and sex. The possibilities of a multidisciplinary approach to rational voice correction are demonstrated.

Context: Salt and water homeostasis is regulated hormonally, so polyuria can result from endocrine disease directly or via secondary effects. These mechanisms are not consistently considered in primary care management of nocturia., Objective: To conduct a systematic review (SR) of nocturia in endocrine disease and reach expert consensus for primary care management., Evidence Acquisition: Four databases were searched from January 2000 to April 2020. A total of 4382 titles and abstracts were screened, 36 studies underwent full-text screening, and 14 studies were included in the analysis. Expert and public consensus was achieved using the nominal group technique (NGT)., Evidence Synthesis: Twelve studies focused on mechanisms of nocturia, while two evaluated treatment options; none of the studies took place in a primary care setting. NGT consensus identified key clinical evaluation themes, including the presence of thirst, a medical background of diabetes mellitus or insipidus, thyroid disease, oestrogen status, medications (fluid loss or xerostomia), and general examination including body mass index. Proposed investigations include a bladder diary, renal and thyroid function, calcium, and glycated haemoglobin. Morning urine osmolarity should be examined in the context of polyuria of >2.5 l/24 h persisting despite fluid advice, with urine concentration >600 mOsm/l after fluid restriction excluding diabetes insipidus. Treatment should involve education, including adjustment of lifestyle and medication where possible. Any underlying endocrine disorder should be managed according to local guidance. Referral to endocrinology is needed if there is hyperthyroidism, hyperparathyroidism, or morning urine osmolarity <600 mOsm/l after overnight fluid avoidance., Conclusions: Endocrine disease can result in nocturia via varied salt and water regulation pathways. The aim of management is to identify and treat causative factors, but secondary effects can restrict improvements in nocturia., Patient Summary: People with altered hormone function can suffer from severe sleep disturbance because of a need to pass urine caused by problems in controlling water and salt levels. An expert panel recommended the best ways to assess and treat these problems on the basis of the rather small amount of up-to-date published research available., (Copyright © 2021 European Association of Urology. Published by Elsevier B.V. All rights reserved.)

Nearly 30% of patients with lipid profile abnormalities suffer from secondary dyslipidaemias. Endocrine disorders are one of the most important causes of dyslipidaemia. Dyslipidaemia can be observed in the pathologies of a variety of endocrine glands, including the thyroid, the pituitary, the adrenals, and the gonads. The most common endocrinopathy causing dyslipidaemia is hypothyroidism. In this paper, we review the lipid profile alterations observed in endocrinopathies. We describe changes in classic lipid profile parameters, including total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and triglycerides. However, we also focus on the influence of endocrine disorders on relatively new cardiovascular markers such as apolipoprotein B, apolipoprotein A1, and lipoprotein(a). While almost all endocrinopathies cause detrimental changes to the lipid profile, hyperthyroidism seems to be a disorder in which lowering of such parameters as total cholesterol, low-density cholesterol, and triglycerides can be observed. Comprehensive screening for endocrine disorders should always be included in the differential diagnostic process of secondary causes of dyslipidaemia. Early detection and treatment of endocrinopathy have a considerable impact on a patient's health. Proper treatment of those disorders plays a crucial role in modifying the cardiovascular risk and improving the lipid profile of those patients. Even though lipid-lowering therapy is usually still needed, in some cases restoration of hormonal balance might be sufficient to normalize the lipid profile abnormalities.