Endocrinology Clinic Research Articles

Prevalence and risk factors for metabolic syndrome in schizophrenia, schizoaffective, and bipolar disorder

Background Metabolic Syndrome (MetS) is a risk for developing cardiovascular diseases and its prevalence is especially high in psychiatric patients. To date, there is limited data from the United Arab Emirates (UAE) on the prevalence of MetS. Therefore, we aimed to investigate its prevalence and possible risk factors in a large sample of psychiatric patients in the UAE. Methods A cross-sectional study was conducted at Al-Ain Hospital, in Al-Ain City, UAE. We collected demographic and clinical data on patients diagnosed with schizophrenia, schizoaffective, and bipolar affective disorder in the period between January 2017 and December 2020. This included their secondary diagnosis (psychiatric or medical), vital signs (heart rate, systolic and diastolic blood pressure, Body Mass Index [BMI]), metabolic parameters (fasting blood glucose, cholesterol, triglycerides, low-density lipoprotein, high-density lipoproteins), and prescribed medications. We used the American Association of Clinical Endocrinology (AACE) criteria to diagnose MetS. Results We included 889 subjects and of these, 79.8% (N = 709) had a BMI ≥25 kg/m2 and 9.8% (N = 87) had no abnormal metabolic parameters. Overall, 28.1% (N = 250) had MetS with no statistical difference between the three groups. Fasting blood glucose levels and abnormally elevated triglycerides were significant predictors for MetS. Conclusion Our study found that around one in three patients had MetS irrespective of the three diagnoses. Some variables were significant predictors for MetS. Our findings were consistent with other studies and warrant the need for regular screening and management of abnormal metabolic parameters.

Using Bedside Spectral Doppler Ultrasound for the Assessment of Patients With Thyrotoxicosis

ObjectiveTo assess the bedside utility of Spectral Doppler Ultrasound (SDUS) in the initial evaluation of patients presenting with thyrotoxicosis. MethodsThis is a retrospective cross-sectional study of patients diagnosed with thyrotoxicosis at an academic outpatient endocrinology clinic from August 2019 to November 2022. The thyroid arteries' peak systolic velocities (PSV) were measured bilaterally using SDUS. PSV ≥40 cm/s in at least a single thyroid artery was considered a reasonable cut-off for Graves’ disease and PSV of perinodular artery ≥ 25 cm/s for toxic adenoma. ResultsWe identified 73 patients. Mean age ± standard deviation 45.2 ± 16.4 years, 54 (74.0%) were female, 49 (67.1%) were Caucasian, 23 (31.5%) were African American, and 1 (1.4%) was Asian. The confirmed diagnoses were 48 (65.8%) Graves’ disease, 13 (17.8%) thyroiditis, four (5.5%) toxic adenoma, four (5.5%) amiodarone-induced thyroiditis type 2, 1 (1.4%) toxic multinodular goiter, 1 (1.4%) had an unremarkable repeat thyroid function testing, and two (2.7%) were unconfirmed. Diagnosis based on the SDUS initial assessment was accurate in 65 (89.0%) of the patients, and it was conclusive and confirmatory during the initial encounter in 55 (75.3%) of the patients before additional testing. A thyroid scan was obtained in nine (12.3%) patients. Incorrectly diagnosed patients were observed in two patients of each of the following categories: Graves’ disease, thyroiditis, toxic adenoma, and unconfirmed diagnoses. ConclusionsSDUS can be a valuable, efficient, and cost-effective bedside tool in the initial assessment of patients presenting with thyrotoxicosis.

The impact of weekly semaglutide, a glucagon-like peptide-1 agonist, on kidney outcomes in adults with type 2 diabetes mellitus.

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder associated with kidney complications. This study aims to investigate the effects of weekly subcutaneous semaglutide, a GLP-1 agonist, on kidney outcomes. This retrospective cohort study was conducted in nephrology and endocrinology clinics at KFAFH from March 2022 to February 2023. The sample size was determined based on hospital records, and randomly selected patients who met the inclusion criteria were included. The inclusion criteria included adults with T2DM who were on weekly subcutaneous semaglutide for 6 months or longer. Patients with type 1 diabetes mellitus, pregnant or gestational diabetes patients, individuals who added other antidiabetic medications during the study period, and participants who refused to be involved were excluded from the study. The study included participants aged between 42 and 85 years, with a mean age of 65.38 years, and the majority (58.7%) were males. There was a significant weight and BMI reduction observed in all patients, with P values <0.001 for both. The average weight reduction was 2.97 kg (SD = 2.34, 95% CI 1.65-3.30), and the average Body (BMI) reduction was 1.16 (SD = 0.91, 95% CI 1.03-1.29). A vast majority of participants (98.5%) reported a weight loss of at least 1 kg, and 13.8% of participants experienced a change in BMI category from higher to lower. No patients reported an increase in the BMI category. There was a significant reduction in glycohemoglobin (HbA1c) measurements from 9.18 pretreatment to 8.13 posttreatment, with an average reduction of 1.05 units (SD = 1.84, 95% CI 0.79-1.31). The majority of participants (70.9%) reported a reduction in HbA1c of at least 0.1 unit. Although there was a slight decrease in estimated glomerular filtration rate (eGFR) values on average (1.35 units), the change was not statistically significant (P = 0.059). More than half of the participants (51.5%) reported an increase in eGFR, 45.4% reported a decrease, and 3.1% reported no change. There was a statistically significant reduction in urinary albumin-to-creatinine ratio (UACR) values from a median of 5.97 pretreatment to a median of 5.60 post-treatment. The median decrease was 0.72 units, with one-third (33.3%) reporting an increase and two-thirds (66.7%) reporting a decrease in values. The correlation analysis revealed no significant association between the total quantity of semaglutide taken and the magnitude of changes. Our study on the impact of weekly semaglutide in adults with T2DM reveals positive effects on kidney outcomes, including weight loss, glycemic control and improved urine albumin creatine ratio, and a reduced risk of nephropathy. These findings highlight the potential of semaglutide as a safe and effective treatment option for improving renal health in individuals with T2DM.

Assessing the readiness to transition to adult care, perceived medication barriers, and glycemic control among teens with type 1 diabetes

AimThis study assessed the readiness to transition (RT) from pediatric to adult care, perceived medication barriers (PMB), and glycemic control in teens with type one diabetes (T1D). BackgroundDuring the transition from pediatric to adult care, teens with T1D are at risk of long-term complications related to impaired adherence. With the increasing prevalence of T1D in Saudi Arabia, research is required to identify the challenges facing teens with T1D during their transition. MethodsThis was a cross-sectional study with a convenient sample of 83 adolescents (12–17 years old) diagnosed with T1D for ≥6 months, their parents, and their pediatric endocrinologists from the pediatric endocrinology clinic in a tertiary hospital in Riyadh. The RT Questionnaire was used to measure RT, and the Medication Barriers Scale was used to measure PMB. Glycemic control was measured using hemoglobin A1c (HbA1c). ResultsAbout 96 % of teens had HbA1c > 7 %. Male teens had higher HbA1c than female teens. Teens and their parents reported high PMB and low RT. PMB (teens), disease duration, family history of diabetes mellitus, and comorbidity were significant predictors of RT (parents). PMB (teens), teens' age, and having a family history of diabetes mellitus were significant predictors of RT (providers). RT (parents) and RT (providers) were the only significant predictors of HbA1c, with RT (providers) being the strongest predictors of HbA1c. ConclusionsHealth policy reform is required to develop national RT programs to prepare teens with T1D to take full responsibility for managing their medical conditions while ensuring adherence.

The details matter: personalized prediction of live birth after in vitro fertilization in women with polycystic ovary syndrome

ObjectiveTo derive and internally validate a clinical prediction model for live birth in women with polycystic ovary syndrome (PCOS) undergoing in-vitro fertilization (IVF) DesignRetrospective cohort study SettingFour academic reproductive endocrinology clinics Patients207 women with PCOS confirmed by Rotterdam criteria undergoing their first fresh IVF cycle InterventionsNone Main Outcome MeasureThe primary outcome was cumulative live birth (LB) per IVF cycle start. This included any LB that resulted from either fresh embryo transfer or any subsequent frozen embryo transfer from embryos obtained at the index oocyte retrieval. A prediction model was derived using multivariable logistic regression. Covariates considered for inclusion in the prediction model included demographic characteristics, medical history, and prior fertility treatment. Predicted probabilities for live birth were calculated using the prediction model which included the 90% shrinkage factor for each adjusted OR. ResultsThe final model, based on maximization of the area under the receiver operating characteristic curve (AUROC), included age <35 years, White race, presence of polycystic ovaries on ultrasound (PCOM), normal BMI (<25 kg/m2), being metabolically healthy (no metabolic risk factors), and being a non-responder to ovulation induction (OI) agents including letrozole and clomiphene citrate. The AUROC for the model was 0.68 (95% CI: 0.60, 0.77). Predicted probabilities of live birth ranged from 8.1% (95% CI 2.8, 21.5) for a woman who had no favorable predictors to 74.2% (95% CI: 59.5, 84.9) for a woman who had all favorable predictors. ConclusionOur study demonstrates that in addition to anovulation, the underlying pathophysiology and associated co-morbidities alter the likelihood of a successful pregnancy in women with PCOS undergoing IVF. Further validation of this model is needed before it, can serve as a tool to personalize prediction estimates for probability of live birth in women with PCOS.

The Burden of Dyslipidemia and Determinant Factors Among Type 2 Diabetes Mellitus Patients at Hawassa University Comprehensive Specialized Hospital, Hawassa, Ethiopia.

Diabetes is a global health challenge with escalating prevalence rates. Cardiovascular complications represent the leading cause of mortality among individuals with diabetes. Notably, dyslipidemia stands as a prominent risk factor for cardiovascular disease in Type 2 diabetes mellitus (T2DM) patients. Timely detection and management of dyslipidemia in these patients hold the potential to deter its progression and substantially reduce the risk of cardiovascular-related morbidity and mortality.This study was aimed at assessing the burden of dyslipidemia and determinant factors among T2DM patients who were being followed at the Endocrinology clinic of Hawassa University Comprehensive Specialized Hospital (HUCSH). An Institutional- based retrospective cross-sectional study was conducted, and samples of 228 patients were selected using a systematic random sampling technique. Data were collected through structured face-to-face interviews using a questionnaire. Bivariate logistic analysis was utilized, and variables with a p-value < 0.25 in this analysis were considered candidates for multivariate logistic analysis. Multivariate logistic regression was employed to identify factors associated with the prevalence of dyslipidemia, with a significance threshold set at p < 0.05. The research revealed an overall prevalence of dyslipidemia among the study participants at 75.9%. The specific manifestations of dyslipidemia were observed as follows: hypertriglyceridemia in 43%, hypercholesterolemia in 25%, elevated low-density lipoprotein in 59.2%, and reduced high-density lipoprotein in 33.3% of the study participants. Factors significantly associated with dyslipidemia included longer diabetes duration, poor physical activity, elevated HbA1C, and obesity. This study underscores a notably high prevalence of dyslipidemia among T2DM patients. The findings highlight the advocate for clinicians to prioritize routine screening, and effective treatment concerning dyslipidemia and its associated risk factors among individuals with T2DM. It is worth mentioning that this study was conducted in a specific hospital setting and limited time, and hence the findings, and generalizability to other healthcare facilities should be taken cautiously.

Metabolic syndrome in children with overweight and obesity: a hospital based cross sectional study

Background: Objective of the research was to study metabolic syndrome (MS) in children with overweight and obesity. Methods: A cross sectional descriptive study was carried out on 264 children aged 3-16 years with overweight and obesity attending the endocrinology clinic of a tertiary care hospital in South India from January 2016 to March 2018. Children with and without MS were compared. Results: Out of 264 children with overweight or obesity, 80 had MS (30.3%). Among children with obesity, proportion of patients with MS (40.5% versus 24.2%, p=0.012), hypertriglyceridemia (54.8% versus 37.5%, p=0.013), low high density lipoprotein cholesterol (HDL-C) (42.9% versus 28.1%, p=0.027) and dyslipidemia (78.6% versus 59.4%, p=0.004) were higher among girls versus boys. Proportion of patients with elevated systolic blood pressure (BP) (18.8% versus 4.3%, p&lt;0.0001), elevated diastolic BP (34.5% versus 5.4%, p&lt;0.0001), impaired fasting glucose (16.2% versus 7.6%, p=0.033), hypertriglyceridemia (85% versus 26.6%, p&lt;0.0001), low HDL-C (75% versus 15.2%, p&lt;0.0001) and dyslipidemia (97.5% versus 57.1%, p&lt;0.0001) were higher in those with MS versus those without. Conclusions: MS noted in younger children with overweight and obesity in the current study is concerning as these children are at increased risk for hypertension, type 2 diabetes and cardiovascular disease in early adulthood leading to huge economic burden on the country. It is therefore of utmost importance to take necessary steps to identify these children, manage obesity effectively before MS sets in and initiate preventive measures thereby ensuring a healthy young generation in the coming years.

Konjenital Adrenal Hiperplazili Hastalarda Final Boyun Değerlendirilmesi

Purpose : Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that occurs as a result of deficiency of any of the enzymes required for the synthesis of glucocorticoid, mineralocorticoid and sex steroid from cholesterol in the adrenal cortex .In this study, we aimed to evaluate the final height in patients with CAH due to 21-hydroxylase and 11 Beta hydroxylase deficiency and to investigate the factors affecting it.&#x0D; Material-method: The anthropometric, clinical and laboratory findings of the patients who were diagnosed with CAH in the Pediatric Endocrinology Clinic were evaluated retrospectively. A total of 39 patients with CAH who had regular controls, who did not have precocious puberty and no additional disease during their follow-up, and who reached the final height were included in the study.&#x0D; Results: The final height was 158.2±5.46 cm in female cases and 168.8±11.67 cm in male cases with classic simple virilizing CAD due to 21 hydroxylase deficiency, and it was 152.2±5.94 cm in salt-wasting female cases and 156.5±6.2 cm in salt-wasting male cases. It was found to be 155.9±7.59 cm in non-classic female cases and 157 cm in 1 non-classic male case. The final height of all classic type CAH cases is SD - 1.41±1.45 SD, and it was calculated as -0.81±1.12 (-2,30 - 0,80) in cases with simple virilizing type classic CAH and -1.79±1.53 (-3.70 - 0.70) in cases with salt-wasting type classic CAD. In non-classic CAH cases, final height SD was calculated as -1.65±1.69 SD. When patients with salt-wasting CAH and simple virilizing CAH were compared in terms of final height SD and genetically adjusted height SD, the final heights of patients with simple virilizing CAH were significantly longer (p

Global research trends in prediabetes over the past decade: Bibliometric and visualized analysis.

This study aimed to investigate global research advances and hot trends in prediabetes in the last decade based on a bibliometric analysis of publications. Publications from 2013 to 2022 were retrieved from the Web of Science Core Collection database through a topic search. With the use of CiteSpace, VOS viewer, and Bibliometrix R software packages, the number of publications, production categories, countries/regions, institutions, authors, journals, references, and keywords were comprehensively analyzed to sort out the hot spots and directions of prediabetes and predict the future research directions. A total of 13,223 papers were recruited for this study by the end of March 3, 2023. A generally increasing trend was observed in the number of annual publications. PLOS ONE (journal), USA (national), and the University of Copenhagen (institutional) published the most papers in this research area. The top 3 contributor authors were Tuomilehto Jaakko, Rathmann Wolfgang, and Peters Annette. "Intestinal microbiota" (2020-2022) was the most populated keyword in terms of intensity, and "biomarkers," "gut microbiota," and "metabolomics" were the most populated keywords in the last 3 years. "Prediabetes: a high-risk state for diabetes development-2012" was the strongest burst reference. This study summarized the research hotspots and trends in prediabetes research in the last decade. Frontier research can be found in the journal Diabetes Care and Journal of Clinical Endocrinology Metabolism. Prediabetes research focuses on preventing risk factors to reduce the prevalence of prediabetes, and current research hotspots focus on gut microbes and metabolism-related biomarkers.

Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia

BackgroundLipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by region. This study aimed to identify the genetic variations associated with lipodystrophy in the southern part of Saudi Arabia.Methodology We conducted a retrospective study by recruiting nine patients from six families, recruiting the proband whole exome sequencing results or any other genetic test results, screening other family members using Sanger sequencing and analysing the carrier status of the latter. These patients were recruited from the Endocrinology and Diabetes Clinic at Jazan General Hospital and East Jeddah Hospital, both in the Kingdom of Saudi Arabia.ResultEight patients were diagnosed with GLD, and one was diagnosed with PLD. Of the six families, four were consanguineously married from the same tribe, while the remaining belonged to the same clan. The majority of GLD patients had an AGPAT2 c.158del mutation, but some had a BSCL2 c.942dup mutation. The single PLD case had a PPARG c.1024C > T mutation but no family history of the disease. In all families evaluated in this study, some family members were confirmed to be carriers of the mutation observed in the corresponding patient.Conclusion Familial screening of relatives of patients with rare, autosomal recessive diseases, such as lipodystrophy, especially when there is a family history, allows the implementation of measures to prevent the onset or reduced severity of disease and reduces the chances of the pathogenic allele being passed onto future generations. Creating a national registry of patients with genetic diseases and carriers of familial pathogenic alleles will allow the assessment of preventive measures and accelerate disease intervention via gene therapy.

Global scientific trends on thyroid disease in early 21st century: a bibliometric and visualized analysis.

Bibliometrics has been used to analyze the literature in the field of thyroid disease studies in the early 21st century, indicating the changes in current international study trends. In this study, a bibliometric analysis of data retrieved from the Web of Science (WoS) database was conducted, and the publication trends and thematic evolution in the field of thyroid disease research from January 1, 2000, to November 16, 2022, were analyzed. A total of 69283 articles related to thyroid diseases were evaluated for their characteristics, including annual publication volume, countries, journals, institutions, authors, keywords, and references. VOSviewer was utilized to perform the analysis of co-authorship, co-citation, co-occurrence and descriptive. The annual publication volume of thyroid disease research literature showed a fluctuating upward trend from 2000 to 2021, exceeding 5,000 articles for the first time in 2021. The United States (16120 counts, 678255 cities) ranks first in terms of publication volume and citation. Thyroid (n=3201) and Journal of Clinical Endocrinology&Metabolism (n=140399) are the most prolific and cited journals, respectively. The organization with the highest publication volume and citation frequency is Harvard University (1011 counts, 59429 cities), Miyauchi Akira (n=422), Schlumberger, and Martin (n=24839) possess the highest publication volume and citation frequency, respectively. Co-occurrence analysis of 307 keywords with frequencies of more than 20 resulted in 6 clusters (1): Thyroid dysfunction and diseases (2); mechanism of occurrence and development of thyroid cancer (3); autoimmune thyroiditis (4); scope and postoperative management of thyroid surgery (5); fine needle aspiration of thyroid nodules (6); radioactive iodine therapy for thyroid cancer. Active monitoring, thermal ablation, Lenvatinib, and long noncoding RNA refer to the latest keywords. Discussing the six clusters helps scholars to determine the scope and direction of studies. Over the past two decades, the literature related to thyroid diseases has increased year by year, with closer collaboration between countries, institutions, and authors. In this study, the global trends, research hotspots, emerging subjects, and basic knowledge of literature related to thyroid diseases were respectively elucidated, which will facilitate researchers in this field to seek better development.

P-83 Primary thyroid lymphoma presented with hypercalcemia and rapidly growing neck mass

Abstract Introduction Primary thyroid lymphoma is an uncommon malignancy, accounting for 1% to 2% of extranodal lymphomas and 1% to 5% of thyroid malignancies. Large B-cell lymphoma is the most prevalent form of primary thyroid lymphoma. Here, we present a patient with hypercalcemia and a rapidly growing neck lesion who was diagnosed with diffuse large B-cell lymphoma of the thyroid gland. Clinical Case A 75-year-old patient presented to the emergency room with loss of appetite and decreased oral intake over the previous five days, as well as abdominal pain and inability to pass gas and feces. The nausea and vomiting symptoms began simultaneously with the abdominal discomfort. Inspection revealed a distinct, palpable, and erythematous mass in the patient's neck, which the patient reported developing within the previous three months. After noticing the growing mass and consulting her primary care physician, she was referred to an ENT specialist; a biopsy was conducted and the results were pending. Her preliminary laboratory results revealed hypercalcemia and renal failure with depressed parathyroid hormone levels. The following were the initial laboratory results: creatinine 2,14 mg/dL, Ca 13,5 mg/dL, Albumin: 4,2 g/dL, P 2,9 mg/dL, Mg:1 mg/dl, parathormone 11.6 ng/dL procalcitonin 0.04% ng/mL and hemoglobin 10.2% g/dl. Abdominal CT revealed a contracted gallbladder with stone formations in the lumen, but no other abnormalities. The patient was admitted to the internal medicine ward with an initial diagnosis of hypercalcemia and prerenal acute kidney failure as a result of decreased oral intake. The patient's hypercalcemia was determined to be PTH-independent, and malignancy was suspected due to a 4-month history of progressive neck lesion. The thyroid gland was 49×40×87mm in the right and 38×40×62mm in the left, and the isthmus was 50mm thick with lobulated outlines on contrast enhanced cervical MR. The signal intensity of parenchyma was heterogeneous. 18F-FDG PET/CT uncovered a bilateral, distinct increase in the size of the thyroid gland with protrusions to the hyoid bone in superior sequences. The solid mass was found to have diffusely increased FDG uptake and a hypermetabolic pattern, both of which are indicative of malignant characteristics. The lesions encompass the trachea and there are reports of invasion of the cricoid cartilage and thyroid cartilage. A second main malignant disease concern was raised when small intestine FDG uptake and wall thickening suggested malignancy. The patient was re-evaluated by the endocrinology clinic, and additional workup tests were ordered due to the suspicion of Riedel Struma, which was based on the control sedimentation rate of 93 mm/h and the firmness of the gland upon palpation. An open surgical biopsy was performed. The pathology report concluded that it is consistent with diffuse large B-cell lymphoma that is CD20-positive. The hematology department has scheduled chemotherapy treatment for the patient.

P-15 A rare case of Trichorhinophalangeal Syndrome Type I

Abstract Introduction Trichorhinopharyngeal syndrome (TRPS) type 1 is a rare autosomal dominant genetic disorder due to defects of the TRPS1 gene. Clinical findings include short stature, fine hair, craniofacial and skeletal malformations, and deformities in phalangeal joints. This rare disease has a wide clinical spectrum and careful investigation on suspected cases should be made. Clinical Case A 19-year-old female patient, after application to the rheumatology clinic of our center with hand deformities, was referred to our endocrinology clinic after initial examination revealed no rheumatologic disorder; with a pre-diagnosis of a possible bone mineral disorder. She had no co-morbid disease, but her history revealed admissions to a pediatric endocrinology unit and investigations of a possible mucopolysaccharidosis, though no diagnosis had been made. There was no kinship between her parents. In her physical examination, she had fine hair, the fifth metacarpal bone of her right hand was short, she had palpable bone cysts on both of her third phalanges, and a high palatal arch. She had a short stature of 149 cm. From her history, it was learned that none of her relatives showed similar phenotypic properties. Her laboratory findings, listed in Table 1, showed no definitive defect other than a mild vitamin D deficit. The X-ray of her hands (Figure 1) showed shortening of the right fifth metacarpal bone. Her bone mineral density scan was normal. From this point, due to her clinical and radiological findings, a possible diagnosis of pseudo-pseudohypoparathyroidism was assumed, and the patient was referred to the department of genetics. The result of the genetic analysis revealed a heterozygous c.2894G&amp;gt;A (p.Arg965His) variant in the TRPS1 (NM_014112/5) gene. As a result, the patient was diagnosed with trichorhinophalangeal syndrome type 1, and was referred to the department of physical medicine and rehabilitation for physiotheraphy program for her hand deformities and possible future deformities in the skeletal system. Because the disease has an autosomal dominant inheritance, she was also informed about genetic consultancy for her possible future conception. Conclusion Trichorhinophalangeal syndrome type 1 is a rare disease and can mimic a variety of disorders including pseudo-pseudohypoparathyroidism, rheumatoid arthritis and other rheumatological diseases. Though there is no definite treatment, suspected cases should be evaluated both clinically and genetically to avoid misdiagnosis. Financial disclosures: None Funding resources: NoneFigure 1.X-ray of the patient's handsArrow shows shortening of the right fifth metacarpal bone Table 1.Laboratory findings of the patientALT: alanine aminotransferase, ALP: alkaline phosphatase, PTH: parathormone

P-11 Case report of Primary Hyperparathyroidism and Pulmonary Embolism

Abstract Introduction Primary hyperparathyroidism (PHPT) is a disorder characterized by excessive parathyroid hormone secretion, resulting in hypercalcaemia. Patients with PHPT are believed to be in a hypercoagulable state due to the role of calcium in the platelet function and the coagulation pathway. Clinical Case An 82-year-old male with a background history of deep vein thrombosis twelve years ago, was admitted with left leg pain following a fall, he was found to have an intra-capsular left neck of femur fracture for which he underwent left hip hemiarthroplasty at a later stage during his admission. He was also found to have adjusted calcium of 2.9 mmol/L at admission, parathyroid hormone of 15.2 pmol/L, raised urine calcium-creatinine ratio of 0.39 and he was vitamin D replete (vitamin D 50.3 nmol/L). He was treated for delirium and a urinary tract infection and his inflammatory markers continued to worsen, this triggered performing a CT scan of the chest, abdomen and pelvis, which revealed a right parathyroid nodule and an acute pulmonary embolism (PE). He was commenced on prophylactic dose of low molecular weight heparin at admission, it was changed to a therapeutic dose of low molecular weight heparin after the PE diagnosis and then to Apixaban for three months. The patient was assessed to not be suitable for parathyroidectomy, the decision was made to manage the PHPT medically and he is going to be followed up locally at the Endocrinology Clinic. Conclusion There have been few case reports suggesting a correlation between the hypercalcaemic PHPT and the risk of venous thromboembolism. Ionised calcium is necessary for thrombin formation, platelet activation and aggregation, as well as activation of various clotting factors, such as factor VII and factor X. Studies have also shown that these patients have increased protein S activity and fibrinogen levels. This case, among other cases that we have observed in our hospital, highlights that the hypercalcaemia could pose an additional hypercoagulability risk in the presence of other risk factors.

O-17 A case of severe and recurrent hypoglycaemia in a healthy patient

Abstract Introduction Hypoglycaemia is a challenging condition for the endocrinologist. Clinical Case A 75 y/o man was admitted to ER due to severe symptoms of hypoglycaemia (weakness, blurring and sweating). His symptoms improved after eating some food and blood glucose was 50 mg/dL. He was treated with oral glucose and referred to our endocrinology clinic. His personal and family history was uneventful (no endocrine, autoimmune or neoplastic disease, no drug) and he did not complain any other symptoms besides hypoglycaemic ones. When going deeply into his medical history, he reported that back pain had occurred 4 weeks before ER access. His GP had thus prescribed supplements containing alpha lipoic acid (ALA) that he had assumed for 3 weeks and then discontinued for the lack of any benefit. He regarded this information as useless as ALA was “just a supplement”. Furthermore, he reported symptoms as shaking, anxiety, dizziness, sweating, and hunger that occurred 5-7 times per day far from meals and faded after eating. A diet was prescribed with frequent eatings, high content of fibers and whole foods. He started flash glucose monitoring (FGM) with the alarm for hypoglycaemia set at 70 mg/dL and was trained for the management of hypoglycaemia. The laboratory alerted us due to the results of oral glucose tolerance test (Table 1). Hypoglycaemic episodes after the test were neither reported nor registered by FGM. The differential diagnosis was among insulinoma, insulin resistance or insulin autoimmune syndrome (Hirata disease). The calculated molar ratio of insulin to C-peptide was 2.68, thus pointing to Hirata disease (to be suspected when the ratio is &amp;gt;1). We opted for watchful waiting while continuing the monitoring. Two weeks later the pending results became available: TSH 1.69 mU/L, HbA1c 5.2%, serum cortisol 14.8 μg/dL, ACTH 18.2 pg/mL, anti-endogenous insulin antibodies 5.8 U/ml (nv &amp;lt;2.4), normal values of transaminases, lipase, and amylase. The patient reported adherence to the diet, two symptomatic hypoglycaemias (in the afternoon, when he couldn't have the snack) as well as asymptomatic FGM alarms once daily, usually early in the morning. We advised to add a snack before bedtime to shorten the fasting period. At the 3-month follow-up he had had no further hypoglycaemias, blood glucose was normal and anti-endogenous insulin antibodies were negative. Conclusion Hypoglycaemia can be a life-threatening condition and differential diagnosis is crucial. It is important to consider even rare conditions, such as Hirata syndrome that can be triggered by several factors and medications, the most common being ALA. Complete medical history is mandatory and tight follow-up essential. Most cases, as the one reported, resolve with a correct diet after the withdrawal of supplements.Table 1.Oral Glucose Tolerance Test

P-46 Panhypopituitarism in a patient with Acute Myeloid Leukemia

Abstract Introduction Panhypopituitarism with acute myeloid leukemia (AML) is a very rare condition. Few cases reported in the literature have been generally associated with poor prognosis. Clinical Case Here we present A 57-year-old female patient with AML-M2. In the first year of her follow-up, she was diagnosed with central diabetes insipidus (DI)- Arginine vasopressin deficiency, when she was referred to the endocrinology clinic with complaints of fatigue, polydipsia and polyuria. Hypopituitarism was found following further investigations including pituitary hormones (Table 1). Magnetic resonance imaging (MRI) of the pituitary gland revealed a a heterogeneous contrasting lesion of approximately 15×11×21 mm, which is isointense with gray matter. Pituitary stalk was observed thickened. Differentiation between lymphocytic hypophysitis and macroadenoma could not be made (Figure 1). Visual field examination was normal. When clinical, laboratory and radiological findings were evaluated together, panhypopituitarism was considered and empirical treatment was started including prednisolone 5 mg daily, levothyroxine 75 mcg daily, and Desmopressin acetate hydrate (DDAVP) 0.600 twice daily without performing a fluid restriction test. The patient had relocated because of social reasons. She applied to another endocrinology out-patient clinic for follow-up controls and reported that she first reduced the desmopressin to half dose and then stopped because she felt amelioration of symptomes. Her urine output during this admission amounted to 2 liters/day without receiving desmopressin. Laboratory workup also supported recovery of DI - Arginine vasopressin deficiency (Table 1). Since basal cortisol values were found to be within normal limits, steroid was also reduced and discontinued, but the need of replacement for hypothyroidism continued. In the control pituitary MRI, the changes of pituitary gland and stalk observed in the prior imaging was seen disappeared (Figure 1). Although the patient did not receive any specific treatment for hypophysitis other than AML treatment, clinical and radiological improvement was observed. She is still doing well on levothyroxine treatment. Cytarabine (ara-c) and idarubicin, hematopoietic stem cell transplantation and venetoclax treatments were applied for AML, respectively and the patient was considered as remission. Resolution of hypophysitis may be associated with remission of AML.Figure 1.Pituitary MRI at diagnosis and follow-up Table 1.Laboratory findings of the patient at baseline and follow-up

P-18 Dent's Disease as a rare cause of rickets

Abstract Introduction Dent's disease is a rare recessive X-linked disorder characterized by hypophosphatemia, hematuria, proteinuria, hypercalciuria, nephrocalcinosis, and progressive renal failure. The majority of cases are caused by mutations in the CLCN5 or OCRL genes. The primary mechanisms of rickets in Dent's disease are a deficiency in phosphate absorption in the proximal tubules of the kidney and an increase in urinary calcium excretion. In order to draw attention to this rare disease, we present a patient diagnosed with Dent's disease while being evaluated for hypophosphatemic rickets. Clinical Case A 23-year-old male patient with Dent's disease was referred to an adult endocrinology clinic for follow-up after a CLCN5 mutation was identified during an examination for hypophosphatemic rickets and proteinuria at the age of three. Since the age of 18, he has been diagnosed with chronic kidney disease. At the age of 19, he has a history of hospitalization for osteomyelitis. No history of fracture. In his family history, both of his parents were cousins, that have short stature and Dent's disease mutation was found to be heterozygous. Both cousins had hypophosphatemic rickets diagnosis. On physical examination, he was mobile, 155 cm tall, weighed 55 kilograms, had bilateral genu valgum, and other system examinations revealed no pathology. The patient was taking 500 mg of phosphate three times per day in addition to 0.5 microgram of calcitriol. In laboratory evaluation, creatinine was 3.11 mg/ dL, GFR was 26 ml/min, PTH was 118 pg/mL, ALP was 82 IU/ml, phosphorus was 3.44 mg/ dL, and calcium was 10 mg/dL. 24-hour urine calcium: 195 mg/day; osteocalcin: 188 ng/mL; beta-crosslaps: 2 ng/mL. It was determined to be high-turnover chronic kidney disease-bone disorder. Urinary ultrasonography showed bilateral kidney diameters decreased and parenchymal thickness thinned, bilateral kidney echoes increased, and bilateral medullary nephrocalcinosis with high echogenicity and calcifications. Cataract and basal ganglia calcification were not detected. Dual Energy X-Ray Absorbsiometry evaluation revealed that the L1-L4 BMD: 0.915 gr/cm2 Z score: -1.1 and the femoral neck BMD: 0.614 gr/cm2 Z score: -3.1 were lower than anticipated for age. The patient's calcitriol dosage was reduced to three times per week after PTH suppression. Since the serum ALP concentration was normal, the oral phosphorus dose was not altered. A limited sodium diet was suggested for the patient. The patient with bilateral nephrocalcinosis was referred to the nephrology clinic for further evaluation. Conclusion Patients diagnosed with rickets should also be mindful of Dent's disease, which must be closely monitored alongside nephrology.Figure 1.Bilateral knee radiograph of the patient

P-26 Recurrent diabetic ketoacidosis-like symptoms and factitious hyperglycemia as a Munchausen syndrome in diabetes mellitus type 1: A case report

Abstract Introduction Factitious disorder (FD) is diagnosed by pretending to be sick with no abnormal examination or paraclinical study in the presence of psychiatric symptoms which also is named Munchausen's syndrome. The prevalence of the disease among hospitalized patients is approximately 9%. Clinical Case A 17-year-old girl with type 1 diabetes mellitus was referred to endocrinology clinic with uncontrolled diabetes, dizziness, abdominal pain, nausea and vomiting. She was treated with multiple daily insulin during 4 years but in last 8 months her self-monitoring of blood glucose ranges was out of control and have BG (blood glucose) different ranges of 40-560mg/dl. She was admitted to control her brittle diabetes with insulin infusion but even with high dose insulin infusion up to 20 IU/hr mostly her BS were above 400mg/dl. The notable point was that BG level was measured by laboratory was lower than glucometer. She also complained of severe abdominal pain and nausea during admission that mimics diabetic ketoacidosis in the presence of hyperglycemia despite the lack of ketonuria and metabolic acidosis. She admitted to hospital several times over the last year to control high level of BG. In psychiatric examination, she has good cooperation in response to questions. Mental Status Examination was not normal. Her mood was depressive and behavior was aggressive. Mild depressive symptoms and borderline features were seen in her Rorschach test. Finally because of high suspicion to associated psychiatric problems, to find the cause of high BG despite high insulin dose prescription, patient behaviors were monitored insensible. We found that she impregnated her finger to the date palm a few minutes before blood glucose check with glucometer devices at times when she is alone in the room. The patient had different deceptive behaviors depending on the method of treatment. But the answer to the question of why the patient was not suffering from hypoglycemia despite high doses of insulin injection is, when insulin infusion by pump was started to control high BG, intravenous cannula secretly separated from insulin infusion set and insulin thrown away. Also she secretly eats fruit juice and jam to prevent hypoglycemic attack for high-dose insulin injection. She took the water into the insulin pen instead of insulin and injected so that the nurses did not notice. Frauds were changed by switching the treatment methods. HbA1c was requested last week of hospitalization which shows 8%. Although all BGwas above 300 mg/dl during this prolonged hospitalization, it did not match with chronic hyperglycemia. Conclusion The main purpose of this article was in relation to a diabetic patient with brittle diabetes, difficulty in control BG level, discrepancies between patient symptoms and sings, factitious disorder or Munchausen syndrome should always be in our mind.

P-42 A delayed diagnosis of MEN1 syndrome

Abstract Introduction Multiple endocrine neoplasia 1 (MEN 1) is a rare autosomal dominantly inherited syndrome that results from mutations in the MEN1 gene. It is characterized by multiple tumors of endocrine glands and some other tissues. Early diagnosis is crucial for optimal management. Here we present a patient with delayed diagnosis and preventable metastatic disease. Clinical Case A 46-year-old male patient who was referred from gastroenterology clinic to our outpatient clinic following distal pancreatectomy. The postoperative pathology was reported as a well-differentiated neuroendocrine tumor (NET) with 3 focuses (60 mm, 9 mm and 2.5 mm in size). Six months ago, he underwent to Magnetic Resonance Imagination (MRI) of the abdomen because of abdominal pain and 17 kg weight loss in a year, that revealed a 69×67 mm cystic lesion in the tail of the pancreas (Figure 1A). Laboratory and physical examinations were in accordance with a nonfunctioning lesion (Table 1). The findings of the Gallium-68 DOTATATE PET/CT suggested residual and metastatic disease during follow-up (At the level of the pancreatic corpus, increased uptake was detected in two lesion sites adjacent to liver segment 3 and in various nodular lesion areas, the largest of which was approximately 20 mm in diameter, adjacent to the duodenum and pancreas (Figure 1B and 1D). No increased uptake was observed in the pancreas and these lesions in preoperative FDG/PET (Figure is not shown). The patient was consultated by oncology clinic and 177-Lutetium-DOTATATE and octreotide treatments were started. Parathyroidectomy and total thyroidectomy 7 years ago was noted in the patient's medical history. Persisting hypercalcemia and elevated PTH were also remarkable in laboratory testing (Table 2). The patient didn't apply to endocrinology clinic after parathyroidectomy and hypercalcemia had been overlooked for 7 years. Further investigation revealed a nonfunctioning 4 mm diameter pituitary lesion (Figure 1C). So the diagnosis of multiple endocrine neoplasia type 1 was suspected. Genetic test detected a c.784-2A&amp;gt;G spice site variant in MEN1 gene in heterozygous form. The patient denied a family history for MEN 1 but he reported that his father died at the age of 40 and his uncle at the age of 39 due to an illness of unknown origin, and two sons of the same uncle were followed up for parathyroid disease. Family screening and genetic counseling were recommended. Surgery of the remaining parathyroid glands and implantation in the forearm and thymectomy were planned. Conclusion MEN syndromes are rare and hypercalcemia is generally the initial presentation. Persistence of hypercalcemia following parathyroidectomy should be warning, and the possibility of MEN -1 syndrome should also be kept in mind even in the lack of family history. As in the presented case, diagnosis may be delayed due to late appearance of symptoms of other components, especially nonfunctional pancreaticoduodenal tumors.Figure 1.MRI and Ga-68 PET/CT images of the patientA: A 69×67 mm cystic lesion in the tail of the pancreas B: Increased Gallium-68 DOTATATE uptake at the level of the pancreatic corpus adjacent to liver segment 3 (SUVmax: 67.90) C: A nonfunctioning 4 mm diameter lesion in the right half of the pituitary D: Increased uptake of Gallium-68 DOTATATE in nodular lesions adjacent to the duodenum and pancreas (SUVmax: 31.09) Table 1.Laboratory results of the patientACTH: Adrenocorticotropic hormone, FSH: follicle stimulating hormone, LH: luteinizing hormone, IGF-1: Insülin-like growth factor, TSH: Thyroid stimulating hormone, 1 mg DST: dexamethasone suppression test Table 2.Calcium and PTH levels of the patient before parathyroidectomy and following parathyroidectomy*Before parathyroidectomy ** Following parathyroidectomy PTH: Parathyroid hormone

Approach to management of hypo and hyperthyroidism in Bangladesh: a nationwide physicians' perspective survey.

Thyroid disorders are common clinical conditions globally. The objective of the present study was to evaluate the physicians' approach to the diagnosis and treatment of thyroid disorders in Bangladesh. The present nationally representative cross-sectional study was conducted among 662 physicians of different levels (general practitioners as well as specialists) from different hospitals in Bangladesh from January to June 2023. A self-administered semi-structured questionnaire including information about demographics and practice patterns for the diagnosis and management of thyroid disorders was used for data collection. Descriptive statistics were used to analyze the data. The American Thyroid Association (ATA) guidelines were the most commonly followed guidelines for the diagnosis and management of thyroid disorders (60%), followed by the American Association of Clinical Endocrinologists (AACE) guidelines (18%) and the European Thyroid Association (ETA) guidelines (9%). Serum TSH, free T3 and free T4 levels were the most frequently used diagnostic tests for the evaluation and follow-ups of both hypothyroid and hyperthyroid states in adults, pregnant women and children, followed by total T3 and total T4 levels. Other tests, such as anti-TPO antibody, anti-TG antibody, anti-TPO, ultrasound scan of the thyroid gland, etc., were rarely used by the participating physicians. Levothyroxine at a dose of 25 to 50 mcg and carbimazole at a dose of 30 to 45 mg were the most frequently used drugs for hypothyroid and hyperthyroid patients, respectively. Almost 65% of the physicians suggested routine thyroid function tests before surgery. In addition, more than 90% of the physicians agreed that thyroid screening for pregnancy, neonates, school children and adults would be mandatory. The majority of the physicians participating in our study followed relevant guidelines for the diagnosis and management of thyroid disorders in Bangladesh. However, there are still some gaps to be improved, as a good number of physicians did not follow specific guidelines for these disorders.