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Key Clinical Message: Autoimmune polyglandular syndrome type 1 (APS‐1) is a rare disorder defined by the presence of at least two of the following conditions: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism, and Addison's syndrome. Despite the lack of CMC and autoimmune history, APS‐1 can be diagnosed using genetic testing. We present the case of a 28‐year‐old female patient with a history of hypocalcemia due to hypoparathyroidism since the age of 2 years. She presented to the endocrine clinic with hypogonadism, primary amenorrhea, and primary ovarian insufficiency. Addison's disease was eventually diagnosed, despite a negative Synacthen test. The adrenal crisis required intravenous hydrocortisone therapy. No CMC was documented, and there was no family history of such conditions. The diagnosis of APS‐1 was confirmed by genetic testing, revealing homozygous pathogenic variants of the autoimmune regulator gene. Management included oral calcium and calcitriol and oral hydrocortisone and fludrocortisone for Addison's disease. Hormonal induction of secondary sexual characteristics was initiated. The patient received combined oral estrogen and progesterone pills. This case highlights the critical significance of early recognition, thorough evaluation, and tailored treatment for patients with APS‐1 to enhance their quality of life and mitigate potentially life‐threatening complications. This underscores the importance of screening for associated minor autoimmune diseases as part of a holistic approach to care. [ABSTRACT FROM AUTHOR]

Background: The interaction between pollution and endometriosis is a pressing issue that demands immediate attention. The impact of pollution, particularly air and water pollution, or occupational hazards, on hormonal disruption and the initiation of endometriosis remains a major issue. Objectives: This narrative review aims to delve into the intricate connection between pollution and endometriosis, shedding light on how environmental factors contribute to the onset and severity of this disease and, thus, the possible public health policy implications. Discussion: Endocrine‐disrupting chemicals (EDCs) in pollutants dysregulate the hormonal balance, contributing to the progression of this major gynaecological disorder. Air pollution, specifically PM2.5 and PAHs, has been associated with an increased risk of endometriosis by enhancing chronic inflammation, oxidative stress, and hormonal imbalances. Chemical contaminants in water and work exposures, including heavy metals, dioxins, and PCBs, disrupt the hormonal regulation and potentially contribute to endometriosis. Mitigating the environmental impact of pollution is required to safeguard women's reproductive health. This requires a comprehensive approach involving stringent environmental regulations, sustainable practices, responsible waste management, research and innovation, public awareness, and collaboration among stakeholders. Conclusion: Public health policies have a major role in addressing the interaction between pollution and endometriosis in a long‐term commitment. [ABSTRACT FROM AUTHOR]

People with endocrine disorders are at an increased risk of osteoporosis, yet their knowledge of osteoporosis prevention is rarely studied. This study aimed to assess the knowledge related to osteoporosis prevention and its associated factors among people with endocrine disorders in China. A cross-sectional study was conducted in a Chinese hospital's Department of Metabolism and Endocrinology. A total of 562 people with endocrine disorders completed the Chinese version of the Osteoporosis Prevention and Awareness Tool to assess their knowledge of osteoporosis prevention. Results showed that participants had a mean knowledge of 59.36 ± 23.90 out of 100, with only 52.1% scoring above 60 points. Being female, having higher education, with comorbidities, with a recent osteoporosis diagnosis, and having received health education related to osteoporosis prevention were associated with higher knowledge of osteoporosis prevention. Our study indicates that more efforts are needed to improve the knowledge related to osteoporosis prevention among people with endocrine disorders. This may be realized by strengthening and expanding diverse education, focusing on males and those with lower education and without comorbidities. [ABSTRACT FROM AUTHOR]

As elite athletes demonstrate through the Olympic motto 'Citius, Altius, Fortius‐ Communiter', new performance records are driven forward by favourable skeletal muscle bioenergetics, cardiorespiratory, and endocrine system adaptations. At a recreational level, regular physical activity is an effective nonpharmacological therapy in the treatment of many endocrine conditions. However, the impact of physical exercise on endocrine function and how best to incorporate exercise therapy into clinical care are not well understood. Beyond the pursuit of an Olympic medal, elite athletes may therefore serve as role models for showcasing how exercise can help in the management of endocrine disorders and improve metabolic dysfunction. This review summarizes research evidence for clinicians who wish to understand endocrine changes in athletes who already perform high levels of activity as well as to encourage patients to exercise more safely. Herein, we detail the upper limits of athleticism to showcase the adaptability of human endocrine‐metabolic‐physiological systems. Then, we describe the growing research base that advocates the importance of understanding maladaptation to physical training and nutrition in males and females; especially the young. Finally, we explore the impact of physical activity in improving some endocrine disorders with guidance on how lessons can be taken from athletes training and incorporated into strategies to move more people more often. [ABSTRACT FROM AUTHOR]

Background/Objectives: Confluent and reticulated papillomatosis is a skin condition with unclear etiology and limited understanding of risk factors, comorbidities, and treatment strategies in the pediatric population. This study aims to describe the varied presentations and outcomes of confluent and reticulated papillomatosis and report associated comorbidities in pediatric patients. Methods: In this retrospective single‐institution case‐control study, pediatric patients with a diagnosis of confluent and reticulated papillomatosis seen between 2012 and 2020 were matched approximately 1:5 with an acne vulgaris cohort based on diagnosis, setting, and time period when seen. The primary measures were the clinical features, demographics, comorbidities, treatment, and outcomes of patients with confluent and reticulated papillomatosis. Univariate and multivariable analyses were conducted to describe the association of confluent and reticulated papillomatosis with several potential risk factors and comorbidities. Results: Patients with confluent and reticulated papillomatosis typically presented in adolescence with a median age of 14 years and female predominance. In a multivariable analysis, patients with confluent and reticulated papillomatosis were significantly more likely to identify as Black, be overweight or obese, and have concurrent acanthosis nigricans compared to control patients. Most of the confluent and reticulated papillomatosis patients were treated with oral minocycline or doxycycline. Although all patients who received antibiotics responded to treatment, approximately half presented with recurrence, typically within 1–2 years of first treatment. Conclusions: Confluent and reticulated papillomatosis is a disorder that presents in adolescence and appears to be more frequent in patients who are Black, obese, or overweight, and also have acanthosis nigricans. Clinicians should assess patients with confluent and reticulated papillomatosis for comorbidities, particularly those associated with insulin resistance, which may help reduce long‐term disease burden. [ABSTRACT FROM AUTHOR]

Background: Some maternal characteristics indicate worse prognosis in pregnant women with coronavirus disease 2019 (COVID‐19). Objective: To describe the prevalence of endocrine disorders in pregnancies involving COVID‐19, and its impact on maternal outcomes. Search strategy: Search terms were "pregnancy" and "COVID‐19". Selection: PubMed, Embase, medRxiv, and Cochrane worksheet from February to July 2020 were searched. Data collection and analysis: Articles describing endocrine disorders in pregnancies with and without COVID‐19 involvement were considered. We performed meta‐analyses of prevalence using random‐effect models and estimated relative risk and 95% confidence intervals (CI) of maternal outcomes relative to presence of endocrine disorders. Main results: Articles included (n = 141) were divided into three data sets: individual (119 articles, 356 women), case series (17 articles, 1064 women), and national registries (7 articles, 10 178 women). Prevalence of obesity ranged from 16% to 46% and hyperglycemia in pregnancy (HIP) ranged from 8% to 12%. In data set 1, HIP and obesity were risk factors for severe disease in crude and age‐adjusted models, although not for intensive care unit admission. In data from two national registries, risk of dying was 5.62 (95% CI 0.30–105.95) in women with diabetes and 2.26 (95% CI 1.03–4.96) in those with obesity. Conclusion: Obesity and HIP were prevalent in pregnant women with severe COVID‐19. Synopsis: In pregnant women with COVID‐19, obesity and hyperglycemia were prevalent and associated with adverse maternal outcomes. [ABSTRACT FROM AUTHOR]

Background and purpose: Melkersson‐Rosenthal syndrome (MRS) is a rare neuro‐mucocutaneous disease. In addition to the traditional clinical triad, there is also a diversity of clinical signs, and it may be related to other systemic diseases. Methods: In the present study, we report a case of MRS with endocrine disorders that exhibits extraordinary therapeutic efficiency by using hydroxychloroquine (HCQ), explore whether there is an internal connection between MRS and endocrine disorders, and discuss the mechanism of the therapeutic efficiency of using HCQ. The hypothesis proposed for the first time is that MRS may essentially be a systemic granulomatous disease. Results: The physical examination revealed orofacial swelling and fissured tongue. The histopathologic examination showed epithelioid granulomas. Combined with the other examination, this case was diagnosed as incomplete MRS. HCQ and local drugs were introduced. The patient achieved clinical recovery and psychological cure by the 18‐week follow‐up, and the 1‐year follow‐up found no reactivation of MRS. Moreover, the levels of cortisol and adrenocorticotropic were within normal ranges. Conclusions: After the drug therapy was targeted at granuloma, not only did all of the symptoms related to MRS disappear, but the endocrine system also returned to normal. It is speculated that the endocrine disorder in this patient may be related to MRS. We further propose the first‐time hypothesis that MRS may essentially be a systemic granulomatous disease. It provides a new medication method with high‐level efficiency. [ABSTRACT FROM AUTHOR]

We present a case of iatrogenic Cushing syndrome and adrenal insufficiency in a newborn secondary to an overuse of triamcinolone cream 0.1% prescrived for the treatment of diaper dermatitis.This case highlignts the risks of systemic absorption when prescribing topical medications in the diaper area of an infant, and the importance of caution and proper follow up when prescribing even mid potency steroids to pediatric patients.. [ABSTRACT FROM AUTHOR]

The extrathyroid manifestations of Graves disease (GD) include thyroid orbitopathy, dermopathy, and acropachy. Thyroid dermopathy (TD), also known as pretibial myxedema, classically presents as nonpitting edema or plaquelike lesions on the pretibial region, while thyroid acropachy (TA) is seen in cases of severe TD, characterized by soft tissue swelling and clubbing of fingers and toes, as well as a periosteal reaction of the bones of the hands and feet. Both TD and TA are rare manifestations of thyroid disease and uncommonly reported in pediatric patients. Our aim was to increase awareness of dermatological manifestations associated with pediatric GD and review the literature of pediatric thyroid dermopathy as well as report a case of acropachy in a child. [ABSTRACT FROM AUTHOR]

Abstract: Background: Although recent hidradenitis suppurativa studies have shown that early‐onset disease is associated with a positive family history and more widespread disease, research in pediatric hidradenitis suppurativa is limited. Methods: Thirty‐three children diagnosed with hidradenitis suppurativa during an 18‐month period were included in this institutional review board–approved, retrospective chart review. Information on demographic characteristic, family history, and timing of onset (prepubescent vs postpubescent) was extracted. The Fisher exact test, Cochran‐Armitage exact trend test, and chi‐square test were used to examine the association between prepubescent or postpubescent onset of hidradenitis suppurativa and sex, disease severity, and family history. Results: A significantly higher percentage of patients with postpubescent onset were female (85.7%) than male (14.3%), whereas those with prepubescent onset were more likely to be male (58.3%) than female (41.7%; P = .02). Associations between disease onset and positive family history of hidradenitis suppurativa (P = .47) or higher Hurley stage of disease (P = .15) were not statistically significant. Conclusion: Boys are more likely to have prepubescent onset of hidradenitis suppurativa and girls to have postpubescent onset. This shift in sex distribution is unexplained, but we hypothesize that, whereas the role of ovarian hormones in the pathogenesis of HS may underlie much of adult‐onset disease, it is less important in prepubescent disease. [ABSTRACT FROM AUTHOR]

In 2003, a tall skeleton belonging to a young adult individual was recovered from a post-medieval cemetery situated north-east of the modern city of Erzurum, Turkey. The sex of the individual was not possible to determine. The predicted stature values range from 182 to 200 cm with the average 188.94 cm. The growth was proportional on almost all bones, except for the cranial and facial bones. The selected metric data were compared with the mean values of the male individuals from the same cemetery for differential diagnosis. The individual exhibits characteristics of both pituitary gigantism and acromegaly due to the tumour formation developed in the intrasellar area. Pathological features such as severe osteoarthritis, enthesis and new bone formation around and on the joint surface of the post-cranial bones, kyphoscoliosis and ankylosis are in agreement with these diagnoses as well. Copyright © 2017 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Iatrogenic Cushing syndrome (ICS) may be caused by exposure to corticosteroid therapy. We report a case of ICS caused by topical corticosteroids applied to the skin after skin graft surgery. We presume that the development of ICS, in this case, was attributed to a combination of skin barrier disruption, usage of high‐potency corticosteroids, broad application area/ large quantity of the corticosteroid, and the extended treatment period. Patients may be at risk for ICS after extensive skin graft surgery if large amounts of very potent topical corticosteroids are applied for an extended period to prevent scar formation or relieve itching. [ABSTRACT FROM AUTHOR]

Abstract: We report an infant with exogenous Cushing syndrome after being treated for 2 months with a potent topical corticosteroid via the mother's application of topical clobetasol for diaper rash without a prescription. We emphasize that potent topical steroids should be used with great caution, especially when used under occlusion (e.g., diaper area) and that parents should be warned about potential side effects of these medications, particularly when used in infants. [ABSTRACT FROM AUTHOR]

The pituitary gland orchestrates our endocrine environment: it produces hormones in response to hypothalamic factors that integrate neural inputs and its activity is balanced by the feedback action of peripheral hormones. Disruption of this equilibrium has severe consequences that affect multiple systems and may be fatal. Genetic analysis of pituitary function led to discovery of critical transcription factors that cause hormone deficiencies when mis-expressed. This review will summarize recent findings that led to the first complete clinical description of inherited, isolated corticotropin (ACTH) deficiency (IAD) and to the first molecular mechanism for excessive ACTH production in Cushing’s disease. Indeed, mutations in TPIT, a positive or negative regulator of cell fates for different pituitary lineages, cause neonatal IAD, a condition considered anecdotic before discovery of this transcription factor. Cushing’s disease is caused by corticotroph adenomas that produce excess ACTH as a result of resistance to glucocorticoids (Gc). Molecular investigation of the normal mechanism of Gc feedback led to identification of two essential proteins for pro-opiomelanocortin repression that are often mis-expressed in corticotroph adenomas thus providing a molecular explanation for Gc resistance. These two proteins, Brg1 and histone deacetylase 2 (HDAC2), are involved in chromatin remodeling and may also participate in the tumorigenic process, as Brg1 is a tumor suppressor. These recent advances have provided improved diagnosis and opened new perspectives for patient management and therapies. [ABSTRACT FROM AUTHOR]

Summary. We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous β thalassaemic patients, regularly treated. We found significantly shorter stature and lower LBMD and FBMD in all patients with CC VDR genotype, and significant shorter height and lower LBMD in prepubertal and pubertal female patients with BB VDR genotype. Because homozygous CC and BB VDR genotypes influence Vitamin D activity, they can be considered additional risk factors for bone disease in β thalassaemia. [ABSTRACT FROM AUTHOR]

Background: Some systemic diseases also affect the skeletal muscle to various degrees and with different manifestations. This review aimed at summarizing and discussing recent advances concerning the management of muscle disease in systemic diseases., Method: Literature review by search of MEDLINE, and Current Contents with appropriate search terms., Results: Secondary muscle disease occurs in infectious disease, endocrine disorders, metabolic disorders, immunological disease, vascular diseases, hematological disorders, and malignancies. Muscle manifestations in these categories include pathogen-caused myositis, muscle infarction, rhabdomyolysis, myasthenia, immune-mediated myositis, necrotising myopathy, or vasculitis-associated myopathy. Muscle affection may concern only a single muscle, a group of muscles, or the entire musculature. Severity of muscle affection may be transient or permanent, may be a minor part of or may dominate the clinical picture, or may be mild or severe, requiring invasive measures including artificial ventilation if the respiratory muscles are additionally involved. Diagnostic work-up is similar to that of primary myopathies by application of non-invasive and invasive techniques. Treatment of muscle involvement in systemic diseases is based on elimination of the underlying cause and supportive measures. The prognosis is usually fair if the causative disorder is effectively treatable but can be fatal in single cases if the entire musculature including the respiratory muscles is involved, in case of infection, or in case of severe rhabdomyolysis., Conclusion: Secondary muscle manifestations of systemic diseases must be addressed and appropriately managed. Prognosis of secondary muscle disease in systemic diseases is usually fair if the underlying condition is accessible to treatment., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)