Endocrine Complications Research Articles

SARS-CoV-2 Infection and the Neuroendocrine System.

The novel coronavirus strain SARS-CoV-2 triggered the COVID-19 pandemic with severe economic and social ramifications. As the pathophysiology of SARS-CoV-2 infection in the respiratory system becomes more understood, growing evidence suggests that the virus also impacts the homeostasis-regulating neuroendocrine systems, potentially affecting other organ systems. This review explores the interactions between SARS-CoV-2 and the neuroendocrine system, highlighting the effect of this virus on various endocrine glands, including the brain, hypothalamus, pituitary, pineal, thyroid, parathyroid, adrenal glands, pancreatic islets, gonads and adipose tissue. The viral invasion disrupts normal hormonal pathways, leading to a range of endocrine disorders, including hormonal imbalances, immune dysregulation, and metabolic disturbances. There is potential for SARS-CoV-2 to induce autoimmune responses, exacerbate existing endocrine conditions and trigger new-onset disorders. Understanding these interactions is crucial for developing treatment strategies that address not only the respiratory symptoms of COVID-19 but also its endocrine complications. The review emphasizes the need for further research to elucidate the long-term effects of SARS-CoV-2 on endocrine health. .

Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.

Patients with hepatic type of glycogen storage diseases (GSDs) can manifest endocrine features such as hypoglycemia, dyslipidemia, or osteoporosis. This study aimed to investigate the long-term endocrine consequences in patients with hepatic GSDs. This study included 64 patients from 52 families with hepatic GSDs including GSD type Ia (41 patients from 37 families), Ib (3 unrelated), III (8 from 6 families), IV (one patient), and IX (11 from 5 families). All patients were genetically confirmed. Clinical and endocrine findings were retrospectively analyzed. The median age at diagnosis and current age were 2.4 years (range, 0.1-42.4 years) and 17.6 years (range, 1.0-47.8 years), respectively. The mean height SDS at diagnosis was -3.5 ± 1.4, and short stature was observed in 35.6% of patients. Patients diagnosed after the age of 3.4 years exhibited a high risk of short stature (OR = 36.1; P-value < 0.001). Among 33 patients who reached final height, 23 (69.7%) showed delayed puberty. Hypertriglyceridemia was observed in 46 patients (71.9%), whereas 25 patients (39%) had elevated low-density lipoprotein cholesterol levels during the follow-up period. Among 24 patients who underwent dual energy X-ray absorptiometry, 22 showed a low bone mineral density Z-score of -3.0 ± 1.3 at the L-spine. This study described the long-term endocrine consequences in patients with hepatic GSDs. Pediatric endocrinologists should be aware of the presenting features and long-term endocrine sequelae of GSDs to provide proper management and decrease its morbidities.

8227 Complex Case of Myxedema Coma Complicated by Cardiac Arrest in a Geriatric Patient with Multiple Comorbidities

Abstract Disclosure: M. Parvez: None. L. Makahleh: None. S. Nagpal: None. A. Kavarthapu: None. V. Vedantam: None. Introduction: This case report details a rare instance of cardiac arrest in a patient with myxedema coma, a severe form of hypothyroidism. It highlights the diagnostic and therapeutic challenges in managing such complex endocrine emergencies. Case Presentation: A 70-year-old female with a history of hypothyroidism, type 2 diabetes, atrial fibrillation, pacemaker implantation, and COPD presented with a 3 day history of progressive lethargy and weakness. EMS found her with critically low blood glucose level of 20. History and Examination revealed non-compliance with thyroid medication and myxedematous features including moon-like facies, periorbital edema, generalized edema, elevated JVP, and cold extremities with sluggish capillary refill. In the ER, she was hypotensive, labs showed a significantly elevated TSH level of 30.55 (0.45-4.5), free T3 level of 1.2 (2.3-4.2), free T4 level of 1.12 (0.93-1.70), high lactate, metabolic acidosis, renal impairment, and liver enzyme elevation. These findings, coupled with the clinical presentation, led to the diagnosis of myxedema coma. The patient's critical state was further complicated by distributive shock, shock liver and oliguric AKI. Management included sodium bicarbonate infusion for severe acidosis, IV hydrocortisone, IV levothyroxine, and broad-spectrum antibiotics. Amiodarone was discontinued due to its potential contribution to acute liver injury and hypothyroidism. Despite interventions, she developed acute respiratory failure, requiring intubation and norepinephrine for low mean arterial pressure. Her renal function improved with pressor support, and her lactic acidosis resolved. She recovered quickly and was subsequently extubated. After stabilization, she was switched to oral levothyroxine and discharged. Shortly after discharge, she returned again with generalized weakness, confusion, and dysuria. ER evaluation revealed lethargy, hypotension, hypoglycemia, severe metabolic acidosis, and a UTI. She tested positive for Influenza. While in the ER, she had cardiac arrest, presenting with agonal breathing and PEA. CPR was initiated, achieving ROSC after two rounds and one dose of epinephrine. She was treated again with IV levothyroxine, and IV antibiotics. She recovered well and was discharged to rehab facility with re-education on compliance. Conclusion: This case exemplifies the complexity and challenges in managing a geriatric patient with multiple comorbidities, particularly in the context of myxedema coma. The intricate interplay of endocrine, cardiovascular, respiratory, and infectious complications necessitated a multifaceted and dynamic therapeutic approach. This case underscores the importance of compliance, vigilant monitoring, prompt recognition of complicating factors, and the need for a coordinated multidisciplinary approach in managing similar cases. Presentation: 6/2/2024

Abuse of Anabolic-Androgenic Steroids as a Social Phenomenon and Medical Problem—Its Potential Negative Impact on Reproductive Health Based on 50 Years of Case Report Analysis

Background/Objectives: Illegal anabolic-androgenic steroids are a significant lifestyle factor in infertility. The aim of our study was to analyze clinical cases resulting from their use for their frequency, geographical location, dynamics, substances used, the age and gender of the users, and the types of clinical complications. Methods: Publications were obtained by searching PubMed for the following terms: ‘anabolic-androgenic steroids’ and ‘clinical case’. Publications from 1973 to 2022 were qualified for the analysis. Results: An increasing trend in the number of clinical cases resulting from the use of steroids, as well as the number of substances used simultaneously, was observed. The substances changed over the decades, but in the last 20 years, testosterone, nandrolone, stanozolol, methandienone, trenbolone, and methenolone have predominated. Cardiological side effects predominated in each period, with a continuous increase in their occurrence. The most common among these were myocardial infarctions and hypertrophic cardiomyopathy. The next most numerous adverse events involved psychiatric, endocrinological, hepatic, and oncological problems. We demonstrated a possible relationship between the use of individual steroids and medical issues; the strongest associations were between testosterone and endocrine complications, and methylstenbolone and hepatic complications. Conclusions: There has been an increasing trend in case reports describing serious health problems associated with the use of anabolic-androgenic steroids, a tendency to use several substances simultaneously, and a preferential use of substances with a high potential of causing serious side effects. These phenomena mainly concern men, with an average age of 30, and the health problems that dominate in clinical case reports—including serious cardiological, psychiatric, endocrinological, hepatic, and oncological diseases—may potentially affect reproductive health and pose a challenge for reproductive medicine.

8221 Rare and Debilitating Endocrine Complications Post Craniopharyngioma Resection in a 29-year-old Male

8221 Rare and Debilitating Endocrine Complications Post Craniopharyngioma Resection in a 29-year-old Male

Outcomes of late endocrinologic evaluation in adult patients with thalassemia major: case series

AThalassemia is a group of inherited disorders characterized by the reduced or absent synthesis of the globin chains that make up hemoglobin. Transfusion-dependent thalassemia (TDT) is the most severe form, which requires lifelong transfusion. Complications related to the heart, liver and endocrine glands caused by the accumulation of excess iron in different organs due to transfusions are seen in adult patients. Of these complications, endocrine gland complications are widespread in adult patients. Hypogonadism is the most commonly reported endocrine complication, which affects 70-80% of thalassemia major patients. In this case series, we will present three female patients, aged 37, 18 and 27, who were followed up with the diagnosis of TDT and who underwent endocrinological evaluation in adulthood. We aim to emphasize that the diagnosis of hypogonadotropic hypogonadism and growth hormone (GH) deficiency was made late because the endocrinological evaluation of these patients was performed at an adult age, and we discussed the consequences of this. The survival of TDT patients has improved significantly in the last decade due to the introduction of transfusion, oral iron chelation therapies, and bone marrow transplantation, and these patients live into adulthood. Therefore, endocrinologic evaluation should be performed in pre-pubertal and pubertal periods. Early recognition of endocrine complications and early initiation of treatment are important to prevent irreversible sequelae.

Extra-pulmonary manifestations of COVID-19: A comprehensive review

The COVID-19 pandemic, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has predominantly been recognized for its respiratory impact. However, as the pandemic has progressed, it has become evident that SARS-CoV-2 affects multiple organ systems beyond the lungs, resulting in a wide array of extra-pulmonary manifestations. These manifestations encompass cardiovascular, neurological, gastrointestinal, hepatic, renal, dermatological, hematological, endocrine, musculoskeletal, ocular, immunological, and psychiatric complications. This review aims to provide a comprehensive understanding of these extra-pulmonary manifestations, highlighting their clinical significance, underlying mechanisms, and implications for patient management. Recognizing these manifestations is critical for improving patient outcomes and informing ongoing research and therapeutic strategies.

Exploring autoimmune endocrine diseases induced by monoclonal antibodies used as multiple sclerosis pharmacotherapy: a systematic review.

Multiple sclerosis (MS) is an autoimmune neurodegenerative disease that targets myelin, leading to inflammation and neuron death. Monoclonal antibodies (MAb) have long been used to control the progression and exacerbations of this disorder, which may induce secondary autoimmune disease as a rare adverse event. This systematic review aimed to gather data of case reports around this subject and to explain the mechanism behind their occurrence. PubMed, Scopus, and Google scholar were searched for published case reports until February 21st 2024. The Joanna Briggs Institute (JBI) critical appraisal checklist was used to assess the quality of the included studies. In total, 20 articles met the inclusion criteria and were reviewed by the authors. The most autoimmune disorders were thyroiditis and as expected induced by alemtuzumab. Ocrelizumab had one secondary autoimmune complication reported. MAbs used in MS immunotherapy have shown to induce secondary autoimmune disorders including endocrine complications, which have been reported in many case reports. It is recommended to use these agents with caution and monitor patients for symptoms of the aforementioned conditions.

Intrathecal drug delivery for the management of pain and spasticity in adults: British Pain Society’s recommendations for best clinical practice

The British Pain Society updated their recommendations on intrathecal drug delivery (ITDD) for the management of pain and spasticity in adults. The recommendations are primarily evidence based but where necessary comprise the consensus opinion of the working group. The recommendations are accompanied by information for patients and their carers, intended to inform and support patients in their decision making. The updated guidance includes recent evidence base of ITDD use in pain and spasticity, address the issues of drug pump compatibility following the latest manufacturer and Medicines and Healthcare products Regulatory Agency (MHRA) recommendations as well as provide an update on the indications and complication management particularly endocrine complications and intrathecal granuloma formation.

Endocrine Disorders in Nephrotic Syndrome-A Comprehensive Review.

Nephrotic syndrome is a clinical syndrome characterized by massive proteinuria, called nephrotic range proteinuria (over 3.5 g per day in adults or 40 mg/m2 per hour in children), hypoalbuminemia, oncotic edema, and hyperlipidemia, with an increasing incidence over several years. Nephrotic syndrome carries severe morbidity and mortality risk. The main pathophysiological event in nephrotic syndrome is increased glomerular permeability due to immunological, paraneoplastic, genetic, or infective triggers. Because of the marked increase in the glomerular permeability to macromolecules and the associated urinary loss of albumins and hormone-binding proteins, many metabolic and endocrine abnormalities are present. Some of them are well known, such as overt or subclinical hypothyroidism, growth hormone depletion, lack of testosterone, vitamin D, and calcium deficiency. The exact prevalence of these disorders is unknown because of the complexity of the human endocrine system and the differences in their prevalence. This review aims to comprehensively analyze all potential endocrine and hormonal complications of nephrotic syndrome and, vice versa, possible kidney complications of endocrine diseases that might remain unrecognized in everyday clinical practice.

Altered Mental Status in Cancer.

Patients with cancer experience high rates of alterations in mental status. The mechanisms for altered mental status (AMS) in this population are manifold. The cancer itself may cause AMS through direct invasion of the central nervous system or as metastatic leptomeningeal spread. However, cancer patients are also vulnerable to tumor-associated complications such as seizures, cerebral edema, strokes, or cancer treatment-related complications such as infections, direct neural injury from radiation or chemotherapy, edema, or dysregulated autoimmune response from immunotherapies. Both during treatment and as sequelae, patients may suffer neurocognitive complications from chemotherapy and radiation, medications or opportunistic infections, as well as toxic-metabolic, nutritional, and endocrine complications. In this review, we describe a clinical approach to the cancer patient presenting with AMS and discuss the differential drivers of AMS in this patient population. While common etiologies of AMS in noncancer patients (toxic-metabolic or infectious encephalopathy, delirium) are also applicable to cancer patients, we additionally provide a cancer-specific differential diagnosis that warrants special consideration in the cancer patient with AMS.

Bone health in childhood low-grade glioma: an understudied problem.

Children with a supratentorial midline low-grade glioma (LGG) may be at risk for impaired bone health due to hypothalamic-pituitary dysfunction, obesity, exposure to multiple treatment modalities, and/or decreased mobility. The presence of impaired bone health and/or its severity in this population has been understudied. We aimed to identify the prevalence and risk factors for bone problems in children with supratentorial midline LGG. A retrospective study was performed in children with supratentorial midline (suprasellar or thalamic) LGG between 1 January 2003 and 1 January 2022, visiting the Princess Máxima Center for Pediatric Oncology. Impaired bone health was defined as the presence of vertebral fractures and/or very low bone mineral density (BMD). In total, 161 children were included, with a median age at tumor diagnosis of 4.7 years (range: 0.1-17.9) and a median follow-up of 6.1 years (range: 0.1-19.9). Five patients (3.1%) had vertebral fractures. In 99 patients, BMD was assessed either by Dual Energy X-ray Absorptiometry (n = 12) or Bone Health Index (n = 95); 34 patients (34.3%) had a low BMD (≤ -2.0). Impaired visual capacity was associated with bone problems in multivariable analysis (OR: 6.63, 95% CI: 1.83-24.00, P = 0.004). In this retrospective evaluation, decreased BMD was prevalent in 34.3% of children with supratentorial midline LGG. For the risk of developing bone problems, visual capacity seems highly relevant. Surveillance of bone health must be an aspect of awareness in the care and follow-up of children with a supratentorial midline LGG. Patients with supratentorial midline LGG may encounter various risk factors for impaired bone health. Bone problems in survivors of childhood supratentorial midline LGG are, however, understudied. This is the first paper to address the prevalence of bone problems in this specific patient population, revealing visual problems as an important risk factor. Diencephalic syndrome historyand/or weight problems associated with hypothalamic dysfunction were related to bone problems in univariate analyses. The results of this study can be used in the development of guidelines to adequately screen and treat these patients to subsequently minimizing bone problems as one of the endocrine complications.

MRI changes of the pituitary gland and brain in Thalassemia major: A comprehensive review of clinical implications

Introduction: Thalassemia major is a genetic disorder characterized by chronic anemia requiring frequent blood transfusions, leading to iron overload in various organs, including the pituitary gland and brain. MRI is a pivotal tool in assessing the extent of iron deposition and its clinical consequences in these patients. Objective: To summarize the MRI findings related to pituitary and brain changes in thalassemia major and to elucidate their clinical implications based on existing literature. Methods: A comprehensive review of the literature was conducted, focusing on studies that employed MRI to investigate pituitary and brain changes in patients with thalassemia major. Data extracted from these studies included the number of patients, MRI findings, and associated clinical outcomes. Results: The review included studies published between 1998 and 2022. Key findings are as follows: Pituitary Gland Changes: Multiple studies reported reduced pituitary gland volume and signal intensity, correlating with hypogonadotropic hypogonadism (HH) and delayed puberty. Specific MRI metrics such as pituitary-to-fat signal intensity ratios (SIRs) and pituitary-R2 values were elevated in patients with HH, indicating significant iron overload. Brain Changes: Increased brain T2* values indicative of iron overload was observed. Clinical Associations: The MRI findings were consistently associated with various endocrinal abnormalities, including hypogonadism, short stature, delayed puberty, and growth hormone deficiency. Severe pituitary iron deposition and volume loss were predictive of hypogonadism. Specific studies highlighted the independent progression of iron overload in different organs, emphasizing the importance of organ-specific MRI evaluation. Additional Findings: Notably, iron chelation therapy showed potential benefits in reversing some of the endocrinal and cardiac complications associated with iron overload. Discussion and Conclusions: MRI is a valuable diagnostic tool for detecting iron overload in the pituitary gland and brain in thalassemia major patients. The findings from various studies highlight significant clinical implications, including hypogonadotropic hypogonadism, delayed puberty, and growth hormone deficiency. Regular MRI assessments, along with appropriate chelation therapy, are crucial in managing and mitigating these complications. Further research is needed to establish standardized MRI protocols and improve early diagnosis and treatment outcomes in thalassemia major.

Trends in Serum Shifts: Unveiling Hyperglycaemia Links PostCOVID-19 Vaccination.

Clinical endocrinology has observed emerging endocrine complications following COVID-19 vaccination, amidst successful reductions in COVID-19 hospitalizations and deaths. The Pfizer-BioNTech and Moderna mRNA vaccines have demonstrated efficacy. Reports indicate a potential association between SARS-CoV-2 vaccination and diabetes, exploring interactions with ACE-2 receptors and molecular mimicry. Additionally, altered liver and kidney function tests post-vaccination prompt investigation into their role in predicting type 2 diabetes. This study aims to explore these biochemical abnormalities in a case-control, single-centre prospective study. This prospective study aimed to evaluate a total of five hundred healthy donors, out of which 203 qualified for final analysis. Participants were selected based on their vaccination status with a COVID-19 vaccine and prior exposure to the SARS-CoV-2 virus. Donors without prior SARS-CoV-2 infection were excluded from the study. Included participants were adults who had received three doses of the COVID-19 vaccine. A total of 203 individuals were included in the study, comprising 104 with type 2 diabetes mellitus (T2DM) and 99 without. Demographic characteristics including age, sex, nationality, Rh factors, ABO blood groups, liver function tests (LFT), kidney function tests (KFT), lactate dehydrogenase (LDH), and mineral ion levels were analysed. Among the participants, the distribution based on HbA1c levels showed 47.8% with HbA1c &#60;7% classified as normal, 38.48% with HbA1c 8-10% classified as high, and 16.64% with HbA1c &#60;10% classified as uncontrolled diabetes. Significant findings included a decrease in magnesium levels to 0.77±0.82 mmol/L (p&#60;0.04*), an increase in LDH levels to 420.70±356.26 µL (p&#60;0.01*), and elevated levels of alkaline phosphatase (143.22 ± 142.62 µL, p&#60;0.001), gamma-glutamyl transferase (GGT) (55.70 ± 32.20 µL, p&#60;0.001), and serum bilirubin (9.23 ± 4.87 µmol/L, p&#60;0.001). Creatinine levels were significantly lower at 116.75 ± 101.94 µmol/L (p#60;0.001), while uric acid levels were significantly elevated at 305.92 ± 145.04 µmol/L (p&#60;0.001) in individuals with uncontrolled HbA1c &#60;10%. A majority of these individuals belonged to the O+ blood group. This study underscores significant shifts in serum biomarkers and their complex interplay with mRNA-based SARS-CoV-2 vaccination and diabetes, particularly in uncontrolled cases. The findings suggest potential autoimmune reactions triggered by the self-adjuvant properties of mRNA and polyethylene glycol lipid conjugates. Variations observed among different blood groups may correspond to racial disparities influencing molecular mimicry mechanisms. Despite these insights, the underlying pathophysiological mechanisms remain unclear, highlighting the critical need for further research to validate and expand upon these findings.

Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.

Iron loading is regarded as the primary cause of endocrine abnormalities in thalassemia major patients. Thus, the purpose of the current research was to explore the impact of thalassemia genotypes, hepcidin antimicrobial peptide (HAMP) and hereditary hemochromatosis (HFE) gene variants, and hepcidin expression on serum ferritin and endocrinal complications in thalassemia patients. The study comprised fifty beta-thalassemia cases and fifty age- and sex-matched controls. Genotyping of the Beta-globin gene (HBB), HAMP, and exon 2 of the HFE gene was performed using Sanger sequencing. C282Y (c.845G > A) variant of the HFE gene was determined by PCR-RFLP. Hepcidin mRNA expression was assessed by qRT-PCR. Biochemical and hormonal studies were done for all patients. Hypogonadism and short stature were found in 56% and 20% of the investigated cases, respectively. Molecular studies reported a statistically higher frequency of the HAMP variant c.-582A > G in thalassemic patients than controls. Significant downregulation of hepcidin expression was found in cases compared to healthy subjects that was significantly associated with short stature. Considering the thalassemia alleles, the IVSI.1G > A (β0) allele was statistically related to hypogonadism. Our results proposed that thalassemia genotypes and downregulated hepcidin expression were the potential risk factors for endocrinopathies in our cases. We also demonstrated an increased incidence of the HAMP promoter variant c.-582A > G that might have a role in the pathogenesis of iron overload in thalassemic cases. Significant downregulation of hepcidin expression, that contributes to increased iron burden, could be used as a future therapeutic target in these patients.

Thalassemia Disorders: A Scoping Insight toward Management and Patient Care Prospects

Abstract Thalassemia (TH) is a group of inherited autosomal recessive blood disorders that are among the most common genetic diseases in the world and originate in the Mediterranean. The condition is caused by a number of genetic defects, and depending on the severity of the disease, untreated individuals may develop clinical complications such as skeletal deformities and growth retardation, splenomegaly, extramedullary hematopoiesis, heart failure, and endocrine complications. Based on a growing understanding of the sequential pathophysiological events, this study provides a scoping review of currently applied treatment, new attractive and potentially novel therapies that are starting to immerge for TH. Furthermore, because this genetic disorder necessitates long-term care, preventing the homozygous state is a critical tool in management alongside preventative measures toward patient care.

Gonadotropic Axis, Bone Mass, and Sarcopenia Assessment After Autologous Hematopoietic Stem Cell Transplantation for Lymphoma.

Gonadal dysfunction, the most frequent endocrine complication in both sexes after autologous hematopoietic cell transplant (HCT) could increase bone loss and sarcopenia, a disease characterized by reduced muscle strength and mass. Sarcopenia is associated with worse survival, lower remission rates, and progression-free survival in patients with lymphoma after HCT. Low bone mass affected approximately 20% of the transplanted patients within 2 years and harms quality of life. This study was conducted in a single center and identified a strong relationship with patients transplanted more recently by LEC (lomustine, etoposide, and cyclophosphamide) conditioning regimen with sarcopenia. Peripheral neuropathy and bone mass changes were also associated with sarcopenia as well, suggesting a relationship with muscle strength loss.

Chronic Kidney Disease and Growth Failure in Children.

Chronic kidney disease (CKD) is a significant challenge for pediatric endocrinologists, as children with CKD may present a variety of endocrine complications. Growth failure is common in CKD, and its severity is correlated with the degree of renal insufficiency. Management strategies include addressing reversible comorbidities, optimizing nutrition, and ensuring metabolic control. Kidney replacement therapy, including transplantation, determines a significant improvement in growth. According to a recent Consensus Statement, children with CKD stage 3-or on dialysis older >6 months-are eligible for treatment with recombinant growth hormone (rGH) in the case of persistent growth failure. Treatment with rGH may be considered for those with height between the 3rd and 10th percentile and persistent growth deceleration. In children who received kidney transplantation but continue to experience growth failure, initiation of GH therapy is recommended one year post-transplantation if spontaneous catch-up growth does not occur and steroid-free immunosuppression is not an option. In children with CKD, due to nephropathic cystinosis and persistent growth failure, GH therapy should be considered at all stages of CKD. Potential adverse effects and benefits must be regularly assessed during therapy. Treatment with GH is safe in children with CKD. However, its general efficacy is still controversial. All possible problems with a negative impact on growth should be timely addressed and resolved, whenever possible with a personalized approach to the patient. GH therapy may be useful in promoting catch-up growth in children with residual growth potential. Future research should focus on refining effective therapeutic strategies and establishing consensus guidelines to optimize growth outcomes in this population.

High Frequency of Cystic Fibrosis-Related Endocrinopathies in a Population of Colombian Children: A Cross-Sectional Study

Objective: The median length of survival for cystic fibrosis (CF) has significantly increased in recent years; however, this means that endocrine complications are more frequently observed in affected patients. This research was aimed at evaluating the frequency, clinical and paraclinical features, and the treatment of linear growth and pubertal disturbances, vitamin D insufficiency/deficiency, CF-related bone disease, and adrenal and thyroid function disturbances in patients with CF, as well as to explore their association with lung function and colonization. Method: A cross-sectional study with a retrospective collection of information from patients under 18 years of age with a confirmed diagnosis of CF, evaluated on an outpatient or in-hospital basis by a pediatric pulmonologist or endocrinologist, or in a multidisciplinary CF consultation, between January 2011–December 2020. Results: A total of 87 patients were included. A high frequency of endocrinopathies was found. Vitamin D insufficiency/deficiency was persistent despite cholecalciferol supplementation in 72%, short stature in 38%, pubertal delay in 26%, and thyroid axis disorders in 8% of cases. Bone disease involving densitometry and adrenal insufficiency secondary to chronic corticosteroid use were also frequent among the screened subjects (44% [n=16] and 12% [n=51], respectively). No significant differences were found for pulmonary function or bacterial lung colonization in the context of any endocrinopathies. Conclusion: Endocrine comorbidities are frequent in patients with CF, and early recognition improves the prognosis and quality of life in these patients. The findings for this cohort ratify the importance of multidisciplinary management of patients with CF.

Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy? Results from a national survey to patients and families on endocrine complications

Glucocorticoids are standard of care for patients with Duchenne muscular dystrophy (DMD). Although prolonged exposure is associated with multiple endocrine side effects, current guidelines related to monitoring and management of endocrinopathies are suboptimal. We aim to explore community perceptions of endocrine related complications in patients with DMD, assess current level of understanding, and desire for further education. A 31-item online survey was sent through Parent Project to Muscular Dystrophy (PPMD) to Duchenne Registry members to be completed by patients or their caretakers. Response rate was 55% (n = 75). Steroids were taken by 93%, but only 50% were followed by endocrinology and 21% report never been seen by endocrinology. Bone health was discussed with 87% of patients and 60% were diagnosed with osteoporosis. Delayed puberty was discussed with 41% of patients with 23% receiving testosterone therapy. About half the patients reported a diagnosis of slowed growth. Only 51% of the participants recalled discussing adrenal insufficiency. Obesity was discussed with 59% of participants. Families felt education about steroid-induced endocrinopathies to be very or extremely important and prefer to discuss about this at the beginning of their steroid therapy. This demonstrates significant gaps in education and access to endocrine care in patients with DMD.