Endocrine Disorders In Patients Research Articles

Hypothyroidism in Metabolic Syndrome.

Metabolic syndrome (MetS) and hypothyroidism are well-established forerunners of atherogenic cardiovascular disease (CVD). It is possible that patients suffering from both these disease entities may have a compounded risk. This study aimed at determining the prevalence of hypothyroidism in MetS. This cross-sectional study was conducted from September 2017 to August 2018 in the department of medicine at a tertiary care hospital in Northern India. Ethical approval was obtained from the institutional ethical committee. The study subjects consisted of 157 patients with MetS, the diagnosis of which was based on the International Diabetes Federation criteria. After a detailed history and physical examination, relevant investigations including complete thyroid profile were done. The data were analyzed using appropriate statistical tests (P < 0.05). In our study, the age of subjects ranged between 14 and 92 years, with a mean ± standard deviation of 48.1 ± 17.01 years. There were more females than males with a male-to-female ratio of 1:1.3. The prevalence of hypothyroidism was 46.5%. Hypothyroidism was more common in females (58.9%) as compared to males (41.1%). Patients with hypothyroidism had significantly higher body weight and body mass index (BMI) in comparison to euthyroid patients. The rest of the anthropometric parameters were comparable. Waist circumference and BMI of overt hypothyroid patients were found to be higher as compared to subclinical hypothyroid patients. Total cholesterol and triglyceride were significantly higher (P = 0.001 and P < 0.001, respectively), while high-density lipoprotein levels were significantly lower in patients with hypothyroidism than the euthyroid group (P < 0.001). Hypothyroidism, especially subclinical hypothyroidism, is a common endocrine disorder in patients with MetS. As MetS and hypothyroidism are independent risk factors for CVD, hence there is a need for screening for hypothyroidism and the treatment of the same can be beneficial in reducing the cardiovascular morbidity and mortality in patients with MetS.

53555 Endocrine disorders in patients with inflammatory dermatosis

53555 Endocrine disorders in patients with inflammatory dermatosis

A Rare Case Report of Takotsubo Cardiomyopathy in a Patient with Hashimoto’s Encephalopathy and Autoimmune Thyroiditis

Takotsubo cardiomyopathy (TCMP), also called as stress cardiomyopathy, is a transient left ventricular (LV) dysfunction. TCMP’s association with endocrine and thyroid diseases has been recently described, but TCMP in a patient of Hashimoto’s thyroiditis with encephalopathy is rarely reported. 1 Here, we present a recent case of TCMP in a patient with Hashimoto’s encephalopathy who was treated with steroids and responded well. Our case here highlights about having a lower threshold for screening of thyroid and other endocrine disorders in patients with TCMP.

Hemodialysis and thyroid disorders in chronic kidney disease patients at General Hospital of Douala, Cameroon

Background: kidneys' physiology is related to thyroid hormone functions. They play an important role in certain pathways of these hormones. Therefore the decline in renal function is accompanied by changes in thyroid function. Thyroid abnormalities are described in chronic hemodialysis but insufficiently elucidated in our area. Hence our interest was to evaluate thyroid function in chronic kidney disease patients to point out the implication of hemodialysis on thyroid dysfunction in our population. Method: we carried out a thyroid function test on a chronic hemodialysed patient admitted at Douala General Hospital (DGH) nephrology service for chronic kidney failure. Samples collected were tested for thyroid hormones total T3 (triiodothyronine), total T4 (thyroxine), and TSH (Thyroid Stimulating Hormone) using enzyme-linked immunosorbent assay (ELISA) technic. Epi Info was used for statistical analysis and 0.05 was significance threshold. Results: most of the participants were male-gendered (62.2%). The mean age was 49 years (41 ± 12.90) ranging from 20 and 79 years. Thyroid profile analysis of each patient highlighted 30 cases of hypothyroidism (36.59%) and 2 cases of hyperthyroidism (2.44%) out of the 82 enrolled subjects. Besides, our results showed that the duration of dialysis (P = 0.019) and old age (P = 0.04) were risk factors associated with hypothyroidism. Other factors such as gender and clinical history had no impact on the patient's thyroid status. Conclusion: our study indicated that hypothyroidism is a common endocrine disorder in patients who were going through chronic hemodialysis. A large population size study can be useful to set up systematic thyroid hormone checkups among chronic hemodialysis patients to improve population health conditions.

Epilepsy and Dysimmune Diseases: A Continuum? (P10-5.017)

<h3>Objective:</h3> The aim of this study was to determine the prevalence of autoimmune and/or endocrine disorders in patients with epilepsy and thus evaluate their associations. <h3>Background:</h3> Epilepsy affects approximately 0.5% to 1.0% of the world’s population. This risk is nearly four times higher in patients with autoimmune and/or endocrine diseases. <h3>Design/Methods:</h3> A retrospective study of Tunisian patients diagnosed with epilepsy in the Neurology department of Monastir. We identified the epidemiological, clinical, electrical features and the presence of autoimmune and/or endocrine disorders. <h3>Results:</h3> Sixty-three patients with epilepsy were included, 34 Men (53%). We have identified eight patients followed for metabolic and/or autoimmune diseases. The mean age: 44 years. Epilepsy was generalized in 85% of cases. Hypothyroidism was the most frequent pathology (50%), followed by type 1 diabetes mellitus (2 patients) and dyslipidemia (2 patients), finally inflammatory bowel disease (2 patients). Antiphospholipid syndrome (APS), systemic lupus erythematosus and Gougerot-Sjögren syndrome were reported in two patients. <h3>Conclusions:</h3> Screening for dysimmune and metabolic disorders in patients followed for epilepsy seems necessary in view of the frequent association and in order to guide antiseizure treatment. <b>Disclosure:</b> Ms. Abbes has nothing to disclose. Dr. Ben Dhia has nothing to disclose. Mariem Mhiri has nothing to disclose. Miss Saad has nothing to disclose. Dr. Gouta has nothing to disclose. Mouna Aissi has nothing to disclose. MAHBOUBA FRIH has nothing to disclose.

Hormonal imbalance in patients with chronic renal failure in the pre-dialysis and dialysis periods (part1)

The review describes the problem of studying progressive changes of hormones concentrations (parathyroid hormone, insulin, somatotropin, prolactin) in patients with chronic renal failure on the pre-dialysis and dialysis stages. The pathogenetic relationships between kidney function deterioration and hormone concentrations as well as changes of their biological effects were evaluated. Parathyroid hormone is considered as an uraemic toxin, since its concentration in the blood begins to increase when the glomerular filtration rate decreases below 50 ml/min. All stages of chronic kidney disease are accompanied by disorders of calcium-phosphorus metabolism. Prolonged excess of parathyroid hormone leads to bone loss and to the progression to secondary hyperparathyroidism that is a frequent complication in patients with the later stages of chronic renal failure and, especially, in those on dialysis treatment. The elevation of insulin level in chronic renal failure is the consequence of progressive decrease in glomerular filtration rate and insulin excretion by proximal tubules. So, it results in insulin half-life prolongation. Long-term dialysis therapy eliminates factors that reduce the degradation of insulin by extrarenal tissues, which results in an improvement of their insulin sensitivity. Experimental and clinical studies have shown that an excess of somatotropin can adversely affect the kidneys that leads to glomerular hyperfiltration and the progression to glomerulosclerosis. The risk of possible side effects on kidneys should be taken into account when prescribing recombinant human insulin-like growth factor. The prolactin concentration is usually increased in chronic kidney disease due to reduced clearance and increased secretion. Hyperprolactinemia manifests as galactorrhea and hypogonadism. Dialysis therapy can’t normalize the increased concentration of prolactin. Modern options for pathogenetic treatment of endocrine disorders in patients with chronic renal failure are outlined in this article. It was found that kidneys play an important role in regulating hormones concentrations in the blood. Endocrine disorders are one of the most important components of the uraemic syndrome, which requires further clinical studies, aimed on the searching of better treatment strategies and prevention of hormonal imbalance on the pre-dialysis and dialysis stages of chronic kidney disease.

Family History of Autoimmunity and Endocrine Disorders in Patients with Alopecia Areata. A Greek Study.

Family History of Autoimmunity and Endocrine Disorders in Patients with Alopecia Areata. A Greek Study.

Endocrine disorders in patients with transfusion-dependent hereditary anemias

Often transfusions red blood cells in patients with hereditary anemias lead to iron overload, that can cause endocrine complications, such as growth retardation, hypothyroidism, hypogonadism, and disorders of carbohydrate metabolism.Clinical case 1. A boy with transfusion-dependent (TD) Diamond-Blackfan anemia at 16.3 years presented with impaired fasting glucose, growth hormone (GH) deficiency, hypogonadotropic hypogonadism; GH therapy was initiated. At the age of 16.8 years old secondary hypothyroidism, secondary hypocorticism and diabetes mellitus were diagnosed. At 17.2 years continuous glucose monitoring (CGM) detected glucose elevations up to 11.7 mmol/l. Therapy with GH and testosterone ethers was continued; levothyroxine and cortef were stopped by patient. At 17.9 years height was 163 cm; no data supporting hypothyroidism nor hypocorticism; glycaemia within goal range.Clinical case 2. A girl with TD beta-thalassemia major at the age of 11.5 years presented with GH deficiency; GH therapy has been conducted from 12.8 to 15.3 years of age. At 13.8 years retardation of pubertal development was diagnosed. At 15.0 hyperglycemia 7.2 mmol/l was detected; normal results of oral glucose tolerance test (OGTT) were observed; glycemia elevations were up to 9.5 mmol/l according to CGM data. At 16.0 height was 152 cm; because of pubertal development arrest hormone replacement therapy was prescribed.CONCLUSION. Growth, pubertal and carbohydrate metabolism disorders were diagnosed in patients with TD hereditary anemias, that confirms the necessity of regularly endocrine investigation. To detect impairment of carbohydrate metabolism investigation of fasting blood glucose, OGTT, and CGM is recommended; glycated hemoglobin measurement is not considered reasonable.

Optic pathway glioma and endocrine disorders in patients with and without NF1.

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

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome.

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

Endocrine Disorder in Patients With Craniopharyngioma.

Craniopharyngioma is an intracranial congenital epithelial tumor growing along the pathway of the embryonic craniopharyngeal tube. The main clinical symptoms of patients with craniopharyngioma include high intracranial pressure, visual field defect, endocrine dysfunction, and hypothalamic dysfunction. At present, the preferred treatment remains the surgical treatment, but the recovery of endocrine and hypothalamic function following surgery is limited. In addition, endocrine disorders often emerge following surgery, which seriously reduces the quality of life of patients after operation. So far, research on craniopharyngioma focuses on ways to ameliorate endocrine dysfunction. This article reviews the latest research progress on pathogenesis, manifestation, significance, and treatment of endocrine disorders in patients with craniopharyngioma.

Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study

ContextFabry Disease (FD) is a rare X-linked storage disease characterised by a-galactosidase A deficiency and diffuse organ accumulation of glycosphingolipids. Enzyme replacement and chaperone therapies are only partially effective. It remains unclear if FD-related endocrine disorders contribute to the observed morbidity.ObjectiveTo investigate the function of the endocrine system in patients with FD.DesignWe conducted an observational prospective study from 2017 to 2020.Setting and patientsWe included 77 patients with genetically confirmed FD (27 men, 20/27 Classic, 7/26 Late Onset phenotype, 50 women, 41/50 and 9/50 respectively), who are systematically followed by our reference centre.Results36/77 (46.8%) patients had VitD deficiency (25(0H)VitD <20 μg/L) despite the fact that 19/36 (52.8%) were substituted with cholecalciferol. Only 21/77 (27.3%) patients had normal VitD levels without VitD substitution. 11/77 (14.3%) had significant hypophosphatemia (p < 0.80 mmol/L). Three new cases (3.9%) of subclinical, two (2.6%) of overt and six (7.8%) of known hypothyroidism were identified. Of note, men had significantly higher renin levels than women [61.4 (26.1–219.6) vs.25.4 (10.9–48.0) mU/L, p = 0.003]. There were no major abnormalities in adrenal, growth and sex-hormone axes. Patients of Classic phenotype had significantly higher High-Density Lipoprotein Cholesterol (HDL-C) levels (p = 0.002) and in men those levels were positively correlated with globotriaosylsphingosin (Lyso-Gb3) values. 10/77 (13%) of the patients were underweight.ConclusionsVitD supplementation should be considered for all patients with FD. Thyroid screening should be routinely performed. Malnutrition should be prevented or treated, particularly in Classic phenotype patients. Overall, our data suggest that FD specialists should actively seek and diagnose endocrine disorders in their patients.

Serum ferritin levels and endocrine disorders in children with thalassemia major

Background Endocrine disorders in thalassemia major children patients occur due to iron overload and hemosiderosis in endocrine organs. Early detection is needed to prevent complications and improve the quality of life. An association between serum ferritin and endocrine disorders in thalassemia patients has been inconclusive to date.&#x0D; Objective To analyze for possible associations between serum ferritin and endocrine disorders (short stature, delayed puberty, delayed bone age, hypothyroidism, impaired glucose tolerance, and diabetes mellitus) and the incidence of each disorder in thalassemia major.&#x0D; Methods There were 115 thalassemia major patients aged 10-18 years involved in our cross-sectional study from June 2019 - June 2020 in the Pediatrics Department, DR. M Hosein Hospital, Palembang, South Sumatera. Anthropometry and socioeconomic status informations were collected from physical examination and interview. Ferritin, FT4, TSH, Hb and glucose levels measured by using standard methods for each item in the laboratory, mean while the skeletal age assessment was determined by using FELS method. &#x0D; Results This study included 83 (72.2%) girls and 32 (27.8%) boys. There were 89 (77.4%) subjects with short stature, 74 (64.4%) with delayed bone age, 30 (26.1%) with impaired glucose tolerance, 25 (21.7%) with delayed puberty, 4 (3.5%) with diabetes mellitus (DM), and none with hypothyroidism. Bivariate and multivariate analyses revealed no associations between serum ferritin and short stature, delayed bone age, impaired glucose tolerance, delayed puberty, and DM.&#x0D; Conclusion There is a high prevalence of endocrine disorders in pediatric thalassemia patients, especially short stature and delayed bone age. However, there are no associations between serum ferritin and endocrine disorders in these patients.

Endocrine disorders in patients with Fabry Disease: A comprehensive reference center study

Endocrine disorders in patients with Fabry Disease: A comprehensive reference center study

Significant Endocrine Disorder in Patients with Thalassemia

Significant Endocrine Disorder in Patients with Thalassemia

Demographic Profile of Endocrine Disorders in Patients Admitted in Endocrinology Ward, Services Hospital Lahore

Objective: To find out frequency and demographic profile of endocrine disorders in patients admitted in endocrinology ward at Services Hospital Lahore. Methods: The cross-sectional study was conducted at Services Hospital Lahore in Punjab, Pakistan. The study included 105 patients admitted in Endocrinology Ward. Data used was secondary and it was collected via medical record from June, 2018 to January, 2019. All information pertaining to patients was kept confidential. Ethical Review Committee permission was undertaken with final approval from Head of Department. Results: Demographic characteristics of patients included age, gender, and showed majority to be middle- aged females. The number of female cases were 65.71% (n = 69), while male cases were 34.29% (n = 36). The average age of all the patients was 40.62 ± 16.52. Majority of the patients with 76.19% (n = 80) cases were reported with having glucose homeostasis disorders with 65.71% (n = 69) cases having diabetes mellitus and 10.48% (n = 11) with hypoglycemia. Pituitary gland disorders comprised 8.57% (n = 9) of the cases with 5.71% (n = 6) diagnosed as pituitary tumors and 2.86% (n = 3) as hypopituitarism. Pituitary tumors further included Cushing syndrome with 4.76% (n = 5) cases and acromegaly with 0.95% (n = 1). Hypopituitarism comprised of hypocortisolism with 1.90% (n = 2) cases and Sheehan's syndrome with 0.95% (n = 1). 7.62% (n = 8) cases were reported with having thyroid disorders, with 4.76% (n = 5) having hyperthyroidism and 2.86% (n = 3) with hypothyroidism. 4.76% (n = 5) cases were diagnosed as sex hormone disorders comprising puberty disorders with 1.90% (n = 2) cases, fertility disorders with 1.90% (n = 2) and turner syndrome (inherited disorder) with 0.95% (n = 1). Calcium homeostasis disorders with 1.90% (n = 2) included one case each of parathyroid adenoma (parathyroid gland disorder) and osteoporosis (metabolic bone disease). Conclusion: The research indicated that glucose homeostasis disorders constituted highest in frequency, followed by pituitary gland disorders, thyroid disorders, sex hormone disorders and calcium homeostasis disorders. The current study urges us to act collectively in order to prevent endocrine disorders which can be done by promoting public education programs, proper counseling about its preventive measures and undergoing periodic medical examination. Key Words: Demography, Endocrine disorders.

Demographic Profile of Endocrine Disorders in Patients Admitted in Endocrinology Ward, Services Hospital Lahore

Objective: To find out frequency and demographic profile of endocrine disorders in patients admitted in endocrinology ward at Services Hospital Lahore. Methods: The cross-sectional study was conducted at Services Hospital Lahore in Punjab, Pakistan. The study included 105 patients admitted in Endocrinology Ward. Data used was secondary and it was collected via medical record from June, 2018 to January, 2019. All information pertaining to patients was kept confidential. Ethical Review Committee permission was undertaken with final approval from Head of Department. Results: Demographic characteristics of patients included age, gender, and showed majority to be middle- aged females. The number of female cases were 65.71% (n = 69), while male cases were 34.29% (n = 36). The average age of all the patients was 40.62 ± 16.52. Majority of the patients with 76.19% (n = 80) cases were reported with having glucose homeostasis disorders with 65.71% (n = 69) cases having diabetes mellitus and 10.48% (n = 11) with hypoglycemia. Pituitary gland disorders comprised 8.57% (n = 9) of the cases with 5.71% (n = 6) diagnosed as pituitary tumors and 2.86% (n = 3) as hypopituitarism. Pituitary tumors further included Cushing syndrome with 4.76% (n = 5) cases and acromegaly with 0.95% (n = 1). Hypopituitarism comprised of hypocortisolism with 1.90% (n = 2) cases and Sheehan's syndrome with 0.95% (n = 1). 7.62% (n = 8) cases were reported with having thyroid disorders, with 4.76% (n = 5) having hyperthyroidism and 2.86% (n = 3) with hypothyroidism. 4.76% (n = 5) cases were diagnosed as sex hormone disorders comprising puberty disorders with 1.90% (n = 2) cases, fertility disorders with 1.90% (n = 2) and turner syndrome (inherited disorder) with 0.95% (n = 1). Calcium homeostasis disorders with 1.90% (n = 2) included one case each of parathyroid adenoma (parathyroid gland disorder) and osteoporosis (metabolic bone disease). Conclusion: The research indicated that glucose homeostasis disorders constituted highest in frequency, followed by pituitary gland disorders, thyroid disorders, sex hormone disorders and calcium homeostasis disorders. The current study urges us to act collectively in order to prevent endocrine disorders which can be done by promoting public education programs, proper counseling about its preventive measures and undergoing periodic medical examination. Key Words: Demography, Endocrine disorders.

SUN-710 Custom Panel to Diagnosis Genetic Endocrine Disorders in a Tertiary Academic Hospital

Next-generation sequencing (NGS) has been transforming the endocrine diagnostic methodology allowing the genetic testing to assume an exploratory role rather than only a confirmatory one. This is possible due to lower costs and increased yield of information. A way to further increase efficiency and sensitivity for variant detection is the use of a sequencing custom panel selecting specific genes for screening. In endocrine disorders, the complex and intricate genotype-phenotype relations and occurrence of diverse comorbidities made the diagnosis challenging. Our aim is to analyze the efficiency of a multigenic panel for molecular diagnosis of endocrine disorders in patients assisted in a tertiary academic hospital, as well as to train academic and medical faculties in the use of molecular tools. Genomic DNA from 282 patients was extracted from blood sample using standard procedures. Sanger method was previously used to screen some candidate genes in half of the patients. The custom panel was designed with 651 genes using the SureDesign tool (Agilent technologies), either associated with the phenotype (OMIM) or candidate genes that englobes developmental (DD), metabolic (MD), and adrenal (AD) disorders. Libraries were prepared with SureSelectXT Target Enrichment kit (Agilent Technologies). The enriched DNA libraries were sequenced in NextSeq 500 (Illumina) with High Output V2 kit (2 x 150 bp). The raw data was aligned to hg19 with BWA-MEM, variant calling was performed using FreeBayes and annotated with ANNOVAR. Filtering took into consideration the rarity (≤1%) of variants in population databases and those in exonic or splice site regions. Variants found were then classified according ACMG/AMP criteria. The categories of Pathogenic (P) and Likely Pathogenic (LP) were considered for molecular diagnosis, while variants of uncertain significance (VUS) were only reported. The average result of 3 runs was: 159Kmm2 of cluster density, 76.5 % of Q30 and 76.6 Gb of data were generated. The mean coverage depth of the targeted regions in panel sequencing data was 237x (SD±110x), with at least 96.3% of the sequenced bases being covered more than 20-fold. Out of the 282 patients, we identified 65 LP/P variants (23%), 22 VUS (8%) and 195 remained undiagnosed (69%). Considering the solved cases, 54 (19.1%) have DD, 6 (2.1%) have MD and 5 (1.8%) have AD. Taking into account that half of the patients had already been previously screened, the data enable new findings in known genes. The application of a multigenic panel aids the training of medical faculty in an academic hospital by showing the big picture of the molecular pathways behind each disorder. This may be particularly helpful considering the higher diagnosis of DD cases. A precise genetic etiology provides improvement in understanding the disease, guides decisions about prevention or treatment, and brings comfort to the affected families.

Spectrum of Endocrine Disorders in Patients Attending Endocrine OPD in a Tertiary Care Hospital in Bangladesh

Spectrum of Endocrine Disorders in Patients Attending Endocrine OPD in a Tertiary Care Hospital in Bangladesh

The correlation between UDP-glucuronosyltransferase polymorphisms and environmental endocrine disruptors levels in polycystic ovary syndrome patients.

Background:In recent years, there has been an interest in whether environmental endocrine disruptors (EEDs) may contribute to the endocrine disorders in patients with polycystic ovary syndrome (PCOS). The clearance of EEDs from the human body is regulated by the glucuronidation of UDP-glucuronosyltransferases (UGT). This study aimed to analyze the relationship of UGT1A1, UGT2B7, and UGT2B15 polymorphisms with the metabolism of EEDs in patients with PCOS.Methods:A total of 357 Chinese women (119 PCOS cases and 238 controls) were genotyped for polymorphisms of UGT1A1G71R, UGT2B7H268Y, and UGT2B15D85Y. The plasma concentrations of EEDs were measured by the gas chromatography-mass spectrometry method. The association between UGT polymorphisms and the serum level of EEDs in patients with PCOS was analyzed.Results:The UGT2B7H268Y single nucleotide polymorphism was associated with an increased risk of PCOS. The homozygous polymorphism (TT) of UGT2B7H268Y showed higher bisphenol A and PAEs concentrations in serum. However, a single nucleotide polymorphism on UGT2B15D85Y expression was associated with a decreased risk of PCOS. Subjects homozygous for the T allele of UGT2B15D85Y had a significant effect on phthalates in the blood. In addition, our results also showed that the homozygous polymorphism (TT) of UGT2B7H268Y and UGT2B15D85Y was associated with the capacity of the excretion of androgen in patients with PCOS.Conclusions:Our study reported the novel associations between the UGT polymorphisms and EEDs concentrations in patients with PCOS, supporting the relevance of genetic differences in EEDs metabolism, which might be considered as an etiology of PCOS.