International Journal of Endocrinology and Metabolism最新文献

{"title":"Preoperative Factors Associated with Intraoperative Maximum Arterial Pressures in Patients with Pheochromocytoma and Paraganglioma.","authors":"Haruyuki Ohsugi,&nbsp;Nae Takizawa,&nbsp;Hidefumi Kinoshita","doi":"10.5812/ijem-123114","DOIUrl":"https://doi.org/10.5812/ijem-123114","url":null,"abstract":"<p><strong>Background: </strong>Surgery for pheochromocytoma and paraganglioma (PPGL) can lead to life-threatening complications, such as intraoperative hypertensive crises, even when adequate doses of preoperative α-receptor blockades are administered.</p><p><strong>Objectives: </strong>The aim of this study was to identify preoperative factors associated with intraoperative maximum arterial pressure (AP) in patients with PPGL.</p><p><strong>Methods: </strong>We retrospectively reviewed the cases of 61 PPGL patients who underwent surgical resection in our hospital between 2006 and 2020. The primary outcome was intraoperative maximum AP as a single index for continuous variables. Simple and multiple linear regression model were used for statistical analysis.</p><p><strong>Results: </strong>The median maximum systolic AP during surgery was 165 mmHg (interquartile range: 150 - 180 mmHg). Log24-h urinary-fractionated metanephrine (MN) and normetanephrine (NMN) was correlated with intraoperative maximum AP (R-squared = 0.218, P < 0.001). Multiple regression analyses showed that diabetes mellitus, one or more of the classic triad, and log24-h urinary-fractionated MN and NMN were independent factors associated with intraoperative maximum AP.</p><p><strong>Conclusions: </strong>Patients with PPGL accompanied by diabetes mellitus, one or more of the classic triad, and high log 24-h urinary-fractionated MN and NMN values may be at risk for hypertensive crises during surgery regardless of whether preoperative α-receptor blockades are used. Clinicians should manage these patients more carefully and effectively.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/de/04/ijem-20-3-123114.PMC9661539.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40699234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Possible Novel Effect for Dapagliflozin in the Management of Subcutaneous Insulin Resistance Syndrome: A Report of Two Cases.","authors":"Nabil W G Sweis,&nbsp;Ahmad Albanna,&nbsp;Rama Alhasoun,&nbsp;Ayman Zayed","doi":"10.5812/ijem-126350","DOIUrl":"https://doi.org/10.5812/ijem-126350","url":null,"abstract":"<p><strong>Introduction: </strong>Subcutaneous insulin resistance syndrome (SIRS) is a rare condition in which patients poorly respond to subcutaneous (SC) insulin but maintain a normal response to intravenous (IV) insulin. The underlying pathophysiology remains elusive. Several treatment regimens have been tested for the management of SIRS, none of which included a sodium-glucose cotransporter-2 inhibitor (SGLT-2).</p><p><strong>Case presentation: </strong>Two cases of type 1 diabetes initially achieved adequate glycemic control with subcutaneous insulin. Both cases later progressed into recurrent diabetic ketoacidosis that would resolve following IV insulin administration. Further investigation revealed unresponsiveness to SC, but not IV, insulin and the clinical diagnosis of SIRS was established accordingly. HbA1c values for cases 1 and 2 were 11% on 400 units/day of SC insulin, and 12% on 350 - 400 units/day of SC insulin, respectively. The patients required very high doses of intramuscular (IM) insulin. Subsequently, dapagliflozin as adjunct therapy significantly reduced the patients' IM insulin requirements beyond the anticipated dose reduction. Ultimately, case 1 achieved an HbA1c of 7 - 8% on 90 units/day of IM insulin and 10 mg/day of dapagliflozin, and case 2 achieved an HbA1c of 7 - 8% on 120 units/day of IM insulin and 10 mg/day of dapagliflozin.</p><p><strong>Conclusions: </strong>These are the first reported cases of SIRS in which dapagliflozin, an SGLT-2 inhibitor, was used. The substantial reduction in the IM insulin dose following the addition of dapagliflozin in our reported cases of SIRS suggests a possible novel mechanism for dapagliflozin beyond its glucosuric effects. In this report, we present a hypothetical basis for this possible novel mechanism.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b4/21/ijem-20-3-126350.PMC9661541.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40699164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RET T244I Germline Variant Mutation in a Patient with Pancreatic Paraganglioma and Primary Hyperparathyroidism.","authors":"Minha Kim,&nbsp;Krist Aploks,&nbsp;Susana Vargas-Pinto,&nbsp;Xiang Dong","doi":"10.5812/ijem-121056","DOIUrl":"https://doi.org/10.5812/ijem-121056","url":null,"abstract":"<p><strong>Introduction: </strong>Paragangliomas are rare neuroendocrine tumors that arise from chromaffin cells. Often termed extra-adrenal pheochromocytomas, these tumors vary with regards to their functionality, location, and malignant potential. Mutations in the RET proto-oncogene are associated with multiple endocrine neoplasia syndrome type 2 (MEN-2) and paragangliomas. The phenotypes of the individual mutations are documented to help determine prognosis.</p><p><strong>Case presentation: </strong>We report a case of a 64-year-old man with a history of parathyroid adenoma who developed a pancreatic retroperitoneal paraganglioma. Despite having laboratory evidence of excess circulating catecholamines, the patient's only presenting symptom was hip pain. The patient underwent resection, and histologic findings were consistent with paraganglioma with lymph node metastasis. Genetic testing revealed a variant of uncertain significance within the RET gene [c.731C>T (p.T244I)].</p><p><strong>Conclusions: </strong>Paragangliomas are rare extra-adrenal neuroendocrine tumors that can be associated with germline mutations. Our patient was diagnosed with a pancreatic paraganglioma associated with a RET T244I mutation. Identifying patients with germline mutations is important for documenting phenotypic presentations of RET gene variants of uncertain significance, which will allow physicians to provide proper management and surveillance of paragangliomas and other associated tumors.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/22/56/ijem-20-3-121056.PMC9661538.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40699162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Lipid Accumulation Product and Triglyceride-Glucose Index with Metabolic Syndrome in Young Adults: A Cross-sectional Study.","authors":"Suryapriya Rajendran,&nbsp;Anand Kumar Kizhakkayil Padikkal,&nbsp;Sasmita Mishra,&nbsp;Manju Madhavanpillai","doi":"10.5812/ijem-115428","DOIUrl":"https://doi.org/10.5812/ijem-115428","url":null,"abstract":"<p><strong>Background: </strong>Metabolic syndrome is a cluster of elements linked with type 2 diabetes mellitus and cardiovascular disease (CVD). The early detection of individuals at the risk of developing metabolic syndrome can prevent the development of type 2 diabetes mellitus and CVD.</p><p><strong>Objectives: </strong>This study aimed to evaluate the association of the lipid accumulation product (LAP) and triglyceride-glucose (TyG) index with metabolic syndrome among young adults.</p><p><strong>Methods: </strong>This cross-sectional study included 300 young adults within the age range of 20 - 40 years. Metabolic syndrome was defined according to modified National Cholesterol Education Program Adult Treatment Panel III guidelines. The LAP and TyG index were calculated. Multivariate logistic regression and receiver operating characteristic curve analyses were performed to assess the association of the LAP and TyG index with metabolic syndrome.</p><p><strong>Results: </strong>The LAP and TyG index were significantly associated with metabolic syndrome (P < 0.05). The LAP showed the highest area under the curve (0.882 and 0.905 in male and female subjects, respectively), followed by the TyG index (0.875 and 0.886 in male and female subjects, respectively, at P < 0.0001. The cut-off values for the LAP were 45.65 in males with a sensitivity and specificity of 80% and 46.91 in females with a sensitivity and specificity of 88%. The cut-off points for the TyG index were 8.63 in males with 80% sensitivity and 78.9% specificity and 8.54 in females with 83.3% sensitivity and 79.6% specificity.</p><p><strong>Conclusions: </strong>The LAP and TyG index are significantly associated with metabolic syndrome in young adults. As simple and inexpensive markers, they can be used to identify individuals with metabolic syndrome with high sensitivity and specificity.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/98/b6/ijem-20-2-115428.PMC9375935.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40647063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physical Activity Behavior During the COVID-19 Outbreak in Individuals with Type 2 Diabetes: Role of Social Support and Other Covariates.","authors":"Maryam Peimani,&nbsp;Fatemeh Bandarian,&nbsp;Nazli Namazi,&nbsp;Bagher Larijani,&nbsp;Ensieh Nasli-Esfahani","doi":"10.5812/ijem-120867","DOIUrl":"https://doi.org/10.5812/ijem-120867","url":null,"abstract":"<p><strong>Objectives: </strong>This study was performed to investigate whether social support and other psychological predictors were associated with physical activity during the prolonged social isolation due to the coronavirus disease 2019 outbreak in Iran.</p><p><strong>Methods: </strong>This cross-sectional study was performed on 494 individuals with type 2 diabetes (T2D) in a diabetes specialty clinic. The questionnaire package comprised five parts, including sociodemographic and clinical characteristics, physical activity level, diabetes-specific social support, feelings of isolation, and diabetes-related distress. Clinical and hemoglobin A1c data were obtained from electronic medical records. Descriptive statistics, Pearson's chi-square test, and multivariable logistic regressions were conducted to analyze the data.</p><p><strong>Results: </strong>Approximately 71% of the participants participated in low/insufficient levels of physical activity. The participants who received support from family/friends (odds ratio [OR] = 1.77; 95% confidence interval [CI]: 1.47 - 2.74), diabetes care team (OR = 1.42; 95% CI: 1.15 - 1.77), and neighbors (OR = 1.53; 95% CI: 1.20 - 2.08) were more likely to have sufficient physical activity than those who did not receive these supports. There was also an association between physical activity behavior with feelings of isolation and diabetes distress.</p><p><strong>Conclusions: </strong>This study points to the importance of social support as an amplifier mechanism for the maintenance of physical activity behavior in individuals with T2D during critical times.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fa/69/ijem-20-2-120867.PMC9363939.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40346734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal Exposure to D-galactose Reduces Ovarian Reserve in Female Rat Offspring Later in Life.","authors":"Marzieh Rostami Dovom,&nbsp;Mahsa Noroozzadeh,&nbsp;Nariman Mosaffa,&nbsp;Abbas Piryaei,&nbsp;Azita Zadeh-Vakili,&nbsp;Mohammad-Amin Aabdollahifar,&nbsp;Maryam Rahmati,&nbsp;Mahbanoo Farhadi-Azar,&nbsp;Fahimeh Ramezani Tehrani","doi":"10.5812/ijem-123206","DOIUrl":"https://doi.org/10.5812/ijem-123206","url":null,"abstract":"<p><strong>Background: </strong>Embryonic life is critical for the formation of ovaries in mammals, and the intrauterine environment may affect ovarian reserve.</p><p><strong>Objectives: </strong>The present study aimed to investigate the impact of prenatal D-galactose exposure on ovarian reserve in female rat offspring in their later lives.</p><p><strong>Methods: </strong>Ten pregnant Wistar rats were randomly divided into two groups. In one group, rats were fed with 35% D-galactose-enriched food from the third day to the end of pregnancy, and in the other group, rats were fed with a standard diet throughout pregnancy. Female offspring (prenatally galactose-exposed rats and non-exposed control rats) were examined in terms of hormonal levels [anti-Mullerian hormones (AMH), follicle-stimulating hormone (FSH), and estradiol (E2)] and ovarian histology at 45 - 50, 105 - 110, and 180 - 185 days of their age.</p><p><strong>Results: </strong>The number of primordial follicles significantly decreased time-dependently in prenatally galactose-exposed rats compared to controls (P-value = 0.002). In addition, decreases in AMH (3.25 vs. 7.5 ng/mL; P = 0.000) and E2 (7.9 vs. 19.5 pg/mL; P = 0.000) and increases in FSH (6.5 vs. 0.8 mIU/mL; P < 0.007) were observed in galactose-exposed rats compared to controls at 45 - 50 days of age.</p><p><strong>Conclusions: </strong>Prenatal exposure to D-galactose negatively affects ovarian reserve in female rats in their later lives. However, further investigation is needed to confirm our findings and explore underlying mechanisms.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/83/70/ijem-20-2-123206.PMC9383541.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40631122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhanced Well-Being Associated with Thyrotoxicosis: A Neglected Effect of Thyroid Hormones?","authors":"Petros Perros,&nbsp;Laszlo Hegedus","doi":"10.5812/ijem-127230","DOIUrl":"https://doi.org/10.5812/ijem-127230","url":null,"abstract":"<p><strong>Context: </strong>Thyrotoxicosis may be associated with a better sense of well-being than in the euthyroid state, though this is not widely recognised.</p><p><strong>Evidence acquisition: </strong>A comprehensive literature search in PubMed and Google Scholar, was performed to identify studies investigating factors influencing well-being, mood, and psychological features associated with elevated thyroid hormones.</p><p><strong>Results: </strong>Enhanced well-being associated with thyrotoxicosis has been described, although the evidence is observational and anecdotal.</p><p><strong>Conclusions: </strong>Enhanced well-being associated with thyrotoxicosis is probably experienced in a minority of patients and may explain why some seek overtreatment with thyroid hormones and report significant improvement on larger than physiological thyroid hormone replacement regimens. It may also explain why some patients with hyperthyroidism (usually due to Graves' disease) are reluctant to adhere to anti-thyroid medication.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/da/14/ijem-20-2-127230.PMC9375936.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40631120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contributing Factors for Calcium Changes During Hospitalization in COVID-19: A Longitudinal Study.","authors":"Sima Hashemipour,&nbsp;Somaieh Kiani,&nbsp;Pouria Shahsavari,&nbsp;Milad Badri,&nbsp;Arefeh Ghobadi,&nbsp;Seyyed Mohammad Reza Hadizadeh Khairkhahan,&nbsp;Mehdi Ranjbaran,&nbsp;Maryam Gheraati","doi":"10.5812/ijem-122378","DOIUrl":"https://doi.org/10.5812/ijem-122378","url":null,"abstract":"<p><strong>Background: </strong>Hypocalcemia is highly prevalent in Coronavirus disease 2019 (COVID-19). There is limited evidence about the course and roles of different parameters in the occurrence of new or worsening hypocalcemia.</p><p><strong>Objectives: </strong>This prospective longitudinal study was conducted on hospitalized COVID-19 patients in Qazvin, Iran, in 2021.</p><p><strong>Methods: </strong>Serum levels of calcium, albumin, parathormone (PTH), 25(OH)D (vitamin D), magnesium, and phosphate were assessed on the first day (time one), as well as fourth to sixth days (time two) of hospitalization. Paired t-test, McNemar's test, and multivariate logistic regression test were used to compare data at two times and evaluating the independent roles of different variables in the occurrence or worsening of hypocalcemia.</p><p><strong>Results: </strong>Out of a total of 123 participants, 102 patients completed the study. The mean serum calcium level significantly decreased from 8.32 ± 0.52 mg/dL to 8.02 ± 0.55 mg/dL at time two compared to time one (P < 0.001). Also, we witnessed new or worsening hypocalcemia at time two in 44 (55%) patients with normal serum calcium or mild hypocalcemia at time one (P < 0.001). The PTH level decreased from 42.17 ± 27.20 pg/mL to 31.28 ± 23.42 pg/mL (P < 0.001). The decrease in albumin and PTH levels was an independent significant factor in the occurrence or worsening of hypocalcemia at time two (OR = 1.27; 95% CI: 1.10 - 1.46; P = 0.001 for each 1 g/L decrement in albumin and OR = 1.29; 95% CI: 1.03 - 1.62; P = 0.026 for each 10 pg/mL decrement in PTH). Vitamin D deficiency or changes during hospitalization did not have a significant role in new or worsening hypocalcemia.</p><p><strong>Conclusions: </strong>Decreased PTH secretion and hypoalbuminemia have significant roles in the occurrence of new or worsening hypocalcemia during hospitalization due to COVID-19.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/52/5d/ijem-20-2-122378.PMC9375939.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40630661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type 2 Diabetes Health Literacy Assessment Tool: Translation and Psychometric Evaluation of the Iranian Version.","authors":"Ali Ahmadi,&nbsp;Shamsaddin Niknami,&nbsp;Mohtasham Ghaffari","doi":"10.5812/ijem-116983","DOIUrl":"https://doi.org/10.5812/ijem-116983","url":null,"abstract":"<p><strong>Background: </strong>Adequate health literacy can lead to self-care behaviors among patients with type 2 diabetes (T2D). Although there is an instrument for measuring the health literacy of patients with diabetes, there is no Persian version of the instrument in Iran.</p><p><strong>Objectives: </strong>The aim of this study was to translate the Chinese Health Literacy Scale for Diabetes (CHLSD) and evaluate the psychometric parameters of the Iranian version.</p><p><strong>Methods: </strong>In this methodological study, using a standard forward-backward translation procedure, the original English language version of the questionnaire was translated into Persian. Face and content validity steps were performed for psychometric measurements. To perform construct (convergent) validity, a cross-sectional study was carried out with the participation of T2D patients admitted to the diabetes clinic (aged over 25 years old). To test the reliability, internal consistency was assessed by Kuder-Richardson (K-R) coefficient, and a test-retest was performed by Spearman correlation coefficient.</p><p><strong>Results: </strong>A total of 283 patients with T2D (mean age: 52.4 years and standard deviation: 11.5) were included in the study. The factor loadings of the variables were checked by calculating the correlation value of the characteristics of a construct with that construct, whose value was greater than 0.4. The K-R coefficients for the whole instrument and its four subscales (remembering, application, analysis, and comprehension) were 0.8, 0.71, 0.73, 0.87, and 0.89, respectively. Re-testing of the instrument with an interval of two weeks indicated the acceptable stability of the instrument (ICC ≥ 0.8).</p><p><strong>Conclusions: </strong>Our findings showed that the Iranian version of CHLSD is a valid and reliable instrument for measuring the health literacy in patients with diabetes.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/96/a9/ijem-20-2-116983.PMC9375938.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40630660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report.","authors":"Ali Homaei,&nbsp;Victoria Chegini,&nbsp;Fatemeh Saffari","doi":"10.5812/ijem-121031","DOIUrl":"https://doi.org/10.5812/ijem-121031","url":null,"abstract":"<p><strong>Introduction: </strong>Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that leads to vision loss. In this study, we report the outcome of a short period of treatment with teriparatide in one patient with OPPG.</p><p><strong>Case presentation: </strong>The patient was a 17-year-old girl who suffered a bone fracture at the age of two and was diagnosed with OPPG at the age of three. Genetic testing was performed for the patient, and a novel homozygous nonsense mutation (c.351G>A) in exon 2 of the LRP5 gene was reported. She was treated with pamidronate, but the bone fracture increased, and the disability progressed. Therefore, at the age of 11 years and nine months, teriparatide was administered subcutaneously at a dose of 20 micrograms per day for four consecutive months. After the treatment with teriparatide, physical activity was achieved, and no further fractures were observed besides the gradual rise in bone mineral density (BMD) (from 0.532 to 0.711 gr/cm² in lumbar spine and 0.372 to 0.635 gr/cm² in femur neck).</p><p><strong>Conclusions: </strong>In children and adolescents diagnosed with OPPG who do not respond to other conventional therapies, short courses of teriparatide therapy may be helpful.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2022-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6b/42/ijem-20-2-121031.PMC9383542.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40647064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}