Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism - A case report.","authors":"Andréanne Jodoin,&nbsp;Maud Marchand,&nbsp;Jacques Beltrand","doi":"10.1515/jpem-2022-0268","DOIUrl":"https://doi.org/10.1515/jpem-2022-0268","url":null,"abstract":"<p><strong>Objectives: </strong>Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Many other multisystemic associations have been described including menstrual irregularities in female and hypogonadism in male patients.</p><p><strong>Case presentation: </strong>We present a first case of WFS associated with hypergonadotropic hypogonadism in a female adolescent diagnosed with WFS both clinically and genetically. Other causes of premature ovarian insufficiency (POI) have been excluded.</p><p><strong>Conclusions: </strong>This case report shows the importance of gonadal function assessment and follow-up in time for both genders.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1552-1555"},"PeriodicalIF":1.4,"publicationDate":"2022-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33465541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic analysis of failed male puberty using whole exome sequencing.","authors":"Maleeha Akram,&nbsp;David J Handelsman,&nbsp;Mazhar Qayyum,&nbsp;Marina Kennerson,&nbsp;Sania Rauf,&nbsp;Shahid Ahmed,&nbsp;Osama Ishtiaq,&nbsp;Muhammad Ismail,&nbsp;Qaisar Mansoor,&nbsp;Afzaal Ahmed Naseem,&nbsp;Syed Shakeel Raza Rizvi","doi":"10.1515/jpem-2022-0254","DOIUrl":"https://doi.org/10.1515/jpem-2022-0254","url":null,"abstract":"<p><strong>Objectives: </strong>Although at least 598 genes are involved in the development of the hypothalamo-pituitary-testicular (HPT) axis, mutations in only 75 genes have so far been shown to cause delayed puberty.</p><p><strong>Methods: </strong>Six male patients with failed puberty, manifested as absence of pubertal changes by 18 years of age, underwent whole exome sequencing of genomic DNA with subsequent bioinformatics analysis and confirmation of selected variants by Sanger sequencing. Genes having plausibly pathogenic non-synonymous variants were characterized as group A (previously reported to cause delayed puberty), group B (expressed in the HPT-axis but no mutations therein were reported to cause delayed puberty) or group C (not reported previously to be connected with HPT-axis).</p><p><strong>Results: </strong>We identified variants in genes involved in GnRH neuron differentiation (2 in group A, 1 in group C), GnRH neuron migration (2 each in groups A and C), development of GnRH neural connections with supra-hypothalamic and hypothalamic neurons (2 each in groups A and C), neuron homeostasis (1 in group C), molecules regulating GnRH neuron activity (2 each in groups B and C), receptors/proteins expressed on GnRH neurons (1 in group B), signaling molecules (3 in group C), GnRH synthesis (1 in group B), gonadotropins production and release (1 each in groups A, B, and C) and action of the steroid hormone (1 in group A).</p><p><strong>Conclusions: </strong>Non-synonymous variants were identified in 16 genes of the HPT-axis, which comprised 4 in group A that contains genes previously reported to cause delayed puberty, 4 in group B that are expressed along HPT-axis but no mutations therein were reported previously to cause delayed puberty and 8 in group C that contains novel candidate genes, suggesting wider genetic causes of failed male puberty.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1410-1421"},"PeriodicalIF":1.4,"publicationDate":"2022-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40357326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.","authors":"Yu-Yu Li,&nbsp;Jia Xu,&nbsp;Xue-Cheng Sun,&nbsp;Hong-Yu Li,&nbsp;Kai Mu","doi":"10.1515/jpem-2022-0394","DOIUrl":"https://doi.org/10.1515/jpem-2022-0394","url":null,"abstract":"<p><strong>Objectives: </strong>Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of the fatty acid oxidative metabolism. This study aimed to investigate the epidemiological characteristics, the spectrum of variation, clinical phenotype, and prognosis of MCADD in Chinese newborns.</p><p><strong>Methods: </strong>We retrospectively analysed newborn screening (NBS) data in the Zibo area from January 2016 to March 2022 and summarized 42 cases recently reported in Chinese neonates. High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) and next-generation sequencing (NGS) were used to detect the concentrations of carnitine in the blood spots and for diagnosis.</p><p><strong>Results: </strong>A total of 183,082 newborns were detected, and six patients were diagnosed with MCADD (1/3,0514). The primary octanoylcarnitine (C8) and the octanoylcarnitine/decanoylcarnitine ratio (C8/C10) were elevated in all patients. Gene analysis revealed four known and four novel variants of the ACADM gene. Five patients were asymptomatic and developed normally under dietary guidance. One child died of vaccination-induced MCADD, presenting with hypoglycemia and elevated acylcarnitines.</p><p><strong>Conclusions: </strong>The incidence of MCADD in Chinese newborns varies geographically from 1/222,903 to 1/30,514, and the most common pathogenic variant is c.449_452 del CTGA (p. T150Rfs∗4) in ACADM gene with a frequency of 27.7%. HPLC-MS/MS and genetic analysis are beneficial for early prevention and good prognosis of MCADD.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1264-1271"},"PeriodicalIF":1.4,"publicationDate":"2022-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40351470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parental marital relationship satisfaction predicts glycemic outcomes in children with type 1 diabetes.","authors":"Lindsey A Loomba,&nbsp;Amy Hughes Lansing,&nbsp;Justine N Cortez,&nbsp;Kearnan Welch,&nbsp;Joe N Solowiejczyk,&nbsp;Simona Ghetti,&nbsp;Dennis M Styne,&nbsp;Nicole S Glaser","doi":"10.1515/jpem-2022-0392","DOIUrl":"https://doi.org/10.1515/jpem-2022-0392","url":null,"abstract":"<p><strong>Objectives: </strong>Glycemic outcomes in children with type 1 diabetes (T1D) vary widely, despite uniform care. We hypothesized that glycemic outcomes in children with T1D are affected by the marital relationship satisfaction of the child's parents.</p><p><strong>Methods: </strong>We evaluated a prospective sample of 51 families with a child with newly diagnosed T1D, including 36 married parent families. We assessed indicators of marital relationship satisfaction and used multiple regression models to determine whether marital relationship satisfaction at diagnosis was associated with mean HbA_1c 18-24 months after diagnosis.</p><p><strong>Results: </strong>Marital status and parental relationship satisfaction at the time of the child's T1D diagnosis were associated with HbA_1c 18-24 months later. These differences persisted after adjusting for demographic factors associated with glycemia.</p><p><strong>Conclusions: </strong>The quality of the primary diabetes caregiver's relationship with a spouse predicts glycemic outcomes for children with T1D. Interventions to improve spousal relationships and caregiver support could improve glycemic control in children with T1D.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1293-1297"},"PeriodicalIF":1.4,"publicationDate":"2022-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40350789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Performance of glucagon stimulation test in diagnosing central adrenal insufficiency in children when utilising the Roche Elecsys^® cortisol II assay: a pilot study.","authors":"Ekkehard Werner Zöllner,&nbsp;Carl J Lombard,&nbsp;Annalise E Zemlin","doi":"10.1515/jpem-2022-0252","DOIUrl":"https://doi.org/10.1515/jpem-2022-0252","url":null,"abstract":"<p><strong>Objectives: </strong>The glucagon stimulation test (GST) is used for the simultaneous assessment of central adrenal insufficiency (CAI) and growth hormone deficiency. The new Roche cortisol II (C II) assay was recently introduced, confounding interpretation of the GST. The performance of the GST in diagnosing central adrenal insufficiency (CAI), utilising the C II assay, was therefore compared with that of the overnight metyrapone test (ONMTPT).</p><p><strong>Methods: </strong>A diagnostic accuracy study was performed by retrospectively analysing folders and laboratory records of 25 children and adolescents investigated for hypopituitarism with the GST and the ONMTPT between September 2016 and December 2019. The peak serum cortisol (C) of the GST, the post-metyrapone serum 11-deoxycortisol and adrenocorticotropin levels of the ONMTPT were recorded. Diagnostic performance of the GST at a previously suggested cut-off of 374 nmol/L was evaluated.</p><p><strong>Results: </strong>Seventeen boys and 8 girls, aged 1.7-16.3 years (median 7.3 years) were identified. The sensitivity of the post-GST C-level at 374 nmol/L was 0.40 (95% confidence interval [CI] 0.17-0.69), specificity 0.64 (95% CI 0.39-0.84), positive predictive value 0.44 (95% CI 0.19-0.73), negative predictive value 0.60 (95% CI 0.36-0.80), accuracy 0.54 (95% CI 0.35-0.72), positive likelihood ratio (+LR) 0.93 (95% CI 0.49-1.77) and negative LR 1.12 (95% CI 0.40-3.15). The area under the receiver of operating characteristics (ROC) curve was 0.379 (95% CI 0.142-0.615).</p><p><strong>Conclusions: </strong>This study suggests that the GST at any C II cut-off cannot replace the ONMTPT as a diagnostic test for CAI in children. Findings should be confirmed in a larger study.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1272-1277"},"PeriodicalIF":1.4,"publicationDate":"2022-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40351355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diabetic ketoacidosis in children with new-onset type 1 diabetes mellitus: demographics, risk factors and outcome: an 11 year review in Hong Kong.","authors":"Sarah Wing-Yiu Poon,&nbsp;Joanna Yuet-Ling Tung,&nbsp;Wilfred Hing-Sang Wong,&nbsp;Pik-To Cheung,&nbsp;Antony Chun-Cheung Fu,&nbsp;Gloria Shir-Wey Pang,&nbsp;Sharon Wing-Yan To,&nbsp;Lap-Ming Wong,&nbsp;Wai-Yu Wong,&nbsp;Suk-Yan Chan,&nbsp;Ho-Chung Yau,&nbsp;Wing-Shan See,&nbsp;Betty Wai-Man But,&nbsp;Shirley Man-Yee Wong,&nbsp;Priscilla Wai-Chee Lo,&nbsp;Kwok-Leung Ng,&nbsp;Kwong-Tat Chan,&nbsp;Hi-Yuet Lam,&nbsp;Sammy Wai-Chun Wong,&nbsp;Yuen-Yu Lam,&nbsp;Hoi-Wing Yuen,&nbsp;Jacky Ying-Ki Chung,&nbsp;Ching-Yee Lee,&nbsp;Ming-Kut Tay,&nbsp;Elaine Yin-Wah Kwan","doi":"10.1515/jpem-2022-0255","DOIUrl":"https://doi.org/10.1515/jpem-2022-0255","url":null,"abstract":"<p><strong>Objectives: </strong>Diabetic ketoacidosis (DKA) is a life-threatening complication of type 1 diabetes (T1D). The aim of this study is to analyze the incidence, clinical characteristics, management and outcome of children presenting with DKA in new-onset T1D from 2008 to 2018 in Hong Kong.</p><p><strong>Methods: </strong>Data was extracted from the Hong Kong Childhood Diabetes Registry. All subjects less than 18 years with newly diagnosed T1D from 1 January 2008 to 31 December 2018 managed in the public hospitals were included. Information on demographics, laboratory parameters, DKA-related complications and management were analyzed.</p><p><strong>Results: </strong>In the study period, there were 556 children with newly diagnosed T1D in our registry and 43.3% presented with DKA. The crude incidence rate of new-onset T1D with DKA was 1.79 per 100,000 persons/year (CI: 1.56-2.04). Subjects presenting with DKA were younger (9.5 ± 4.5 vs. 10.5 ± 4.4, p=0.01) and had shorter duration of symptoms (4.2 ± 5.9 days vs. 10.6 ± 17.1 days, p<0.01). Regarding management, up to 12.4% were given insulin boluses and 82.6% were started on insulin infusion 1 h after fluid resuscitation. The rate of cerebral edema was 0.8% and there was no mortality.</p><p><strong>Conclusions: </strong>Younger age and shorter duration of symptoms were associated with DKA in new-onset T1D. Despite availability of international guidelines, there was inconsistency in acute DKA management. These call for a need to raise public awareness on childhood diabetes as well as standardization of practice in management of pediatric DKA in Hong Kong.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1132-1140"},"PeriodicalIF":1.4,"publicationDate":"2022-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40415675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metabolically healthy obesity in a paediatric obesity clinic.","authors":"Diana Teixeira,&nbsp;Cátia Martins,&nbsp;Guiomar Oliveira,&nbsp;Raquel Soares","doi":"10.1515/jpem-2022-0086","DOIUrl":"https://doi.org/10.1515/jpem-2022-0086","url":null,"abstract":"<p><strong>Objectives: </strong>Metabolically healthy obese (MHO) children is a described subgroup of obese children who do not exhibit traditional cardiometabolic risk factors. The aim of this study was to determine the prevalence and characterize patients with this phenotype.</p><p><strong>Methods: </strong>Cross-sectional study, performed in a paediatric obesity clinic (tertiary university hospital) in 2019. Children were classified with \"MHO\" or \"metabolically unhealthy obesity\" according to the criteria proposed by Damanhoury based on HDL, triglycerides, systolic and diastolic blood pressure (DBP) and fasting glucose values.</p><p><strong>Results: </strong>241 participants were included, with ages between two and 17 years. The prevalence of the MHO phenotype was 61.8%. The body mass index (Z-score) in children aged five years or older was significantly lower in those with MHO (p=0.040). In the MHO group, mean total cholesterol levels were higher (p<0.001), due to the high value of HDL (p<0.001); triglyceride levels (p<0.001), systolic blood pressure (SBP) (p=0.036), DBP (p=0.029) and the homeostasis model assessment - insulin resistance (HOMA-IR) index (p=0.001) were significantly lower. HDL (OR=1.421; 95% CI 1.279-1.579; p<0.001) and SBP (OR=0.943; 95% CI 0.903-0.985; p=0.008) were the only independent predictors for the development of MHO.</p><p><strong>Conclusions: </strong>Almost two-thirds of the participants had an MHO phenotype. The high and low values of HDL and SBP, respectively, were the only variables that proved to be predictors of MHO.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1147-1153"},"PeriodicalIF":1.4,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40631198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Universal salt iodization potentially contributes to health equity: socio-economic status of children does not affect iodine status.","authors":"Neda Milevska-Kostova,&nbsp;Daniela Miladinova,&nbsp;Sonja Kuzmanovska,&nbsp;Venjamin Majstorov,&nbsp;Till Ittermann,&nbsp;Henry Völzke","doi":"10.1515/jpem-2022-0166","DOIUrl":"https://doi.org/10.1515/jpem-2022-0166","url":null,"abstract":"<p><strong>Objectives: </strong>Many studies have shown that socio-economic status (SES) contributes to health inequalities, with nutrition as one of the major risk factors. Iodine intake entirely depends on external sources, and deficiencies are known to be more prevalent in lower social groups, especially in countries with limited access to iodized salt. This study aimed to determine the influence of SES on iodine status and iodine availability from household salt in North Macedonia.</p><p><strong>Methods: </strong>Using cluster sampling, 1,200 children were recruited, and 1,191 children participated (response rate: 99.2%). Iodine status was assessed through urinary iodine concentration (UIC), and iodine availability through iodine content in household salt requested from participants. SES was assessed using standardized Family Affluence Score (FAS).</p><p><strong>Results: </strong>No statistically significant correlation was found between FAS and iodine in salt. Median regression revealed no significant associations of middle vs. low FAS (β=0.00; 95%-confidence interval (CI)=[-0.61, 0.62]; p=0.999) or high vs. low affluence (β=0.48; 95% CI=[-1.37, 0.41]; p=0.291) with iodine content in household salt. UIC levels were significantly lower in middle FAS children compared to low FAS children (β=-16.4; 95% CI=[-32.3, -0.5]; p=0.043). No statistically significant differences in UIC were found between children with high and low affluence (β=-12.5; 95% CI=[-35.5, 10.5]; p=0.287), possibly due to lowered statistical power for this comparison.</p><p><strong>Conclusions: </strong>Universal salt iodization (USI) proves to be a cost-effective measure for appropriate iodine intake in healthy children and adults, irrespective of their social status. It can thus be concluded that USI contributes to reducing health inequalities related to iodine status among population of different social strata.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1154-1160"},"PeriodicalIF":1.4,"publicationDate":"2022-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40704533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism.","authors":"Gizem Yıldız,&nbsp;Meral Torun Bayram,&nbsp;Tayfun Çinleti,&nbsp;Altuğ Koç,&nbsp;Alper Soylu,&nbsp;Salih Kavukçu","doi":"10.1515/jpem-2022-0154","DOIUrl":"https://doi.org/10.1515/jpem-2022-0154","url":null,"abstract":"<p><strong>Objectives: </strong>Nephrocalcinosis is associated with conditions that cause hypercalcemia and the increased urinary excretion of calcium, phosphate, and/or oxalate. A monogenic etiology is found in almost 30% of childhood-onset nephrocalcinosis which is also a common manifestation of primary hyperparathyroidism. We discuss a child with nephrocalcinosis and features mimicking primary hyperparathyroidism.</p><p><strong>Case presentation: </strong>A 7-year-old girl presented with nephrocalcinosis. Hypercalciuria, hyperphosphaturia, mild hypercalcemia, hypophosphatemia and elevated parathyroid hormone levels along with normal serum creatinine and absence of hypokalemic alkalosis suggested primary hyperparathyroidism. However, she was ultimately diagnosed with Bartter syndrome type 2 based on the presence of homozygous pathogenic variation in <i>KCNJ1</i>gene.</p><p><strong>Conclusions: </strong>This is the second reported case of late-onset Bartter syndrome type 2 without hypokalemic alkalosis. Patients with Bartter syndrome may present with high parathyroid hormone levels and hypercalcemia in addition to hypercalciuria. Thus, the present case suggests that the <i>KCNJ1</i> gene should be included in genetic analysis even in older children with isolated nephrocalcinosis.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1298-1301"},"PeriodicalIF":1.4,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40603601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between clinical variations and copy number variations in cases with Turner syndrome.","authors":"Ezgi Aksoy,&nbsp;Ozgur Cogulu,&nbsp;Erhan Pariltay,&nbsp;Samim Ozen,&nbsp;Aysun Ata,&nbsp;Emin Karaca,&nbsp;Sukran Darcan","doi":"10.1515/jpem-2022-0153","DOIUrl":"https://doi.org/10.1515/jpem-2022-0153","url":null,"abstract":"<p><strong>Objectives: </strong>Turner syndrome (TS) is one of the most common chromosomal abnormalities with an incidence of approximately one in 2,500 live births. Short stature and primary ovarian insufficiency are two most important characteristic findings of TS. Turner syndrome karyotypes include monosomy X, mosaic structure and X chromosome structural anomalies. Genotypic and phenotypic characteristics vary among cases. This study aimed to evaluate the clinical variations observed in TS cases with the copy number variations (CNV) detected by microarray study.</p><p><strong>Methods: </strong>Fifty-three patients diagnosed with TS, between the ages of 0-18 were included in the study. Peripheral blood samples were taken from 36 cases for microarray study.</p><p><strong>Results: </strong>Karyotypes were as follows: thirty-three of cases were 45,X, 7 were 45,X/46,XX, 6 were 45,X/46,Xi(Xq), 2 were 46,Xi(Xq), 2 were 45,X/46,r(X), 1 was 45,X/46,Xi(Xp), 1 was 45,X/46,XY and 1 was 45,X/46,X+mar(idicY) karyotype. A significant correlation was found between karyotype groups and FSH values of the cases (p=0.034). In monosomy X and mosaic isochromosome Xq cases, the FSH value was found to be significantly higher than those with 45,X/46,XX mosaic karyotype. CNVs were found in 8 (22.2%) out of 36 cases whose microarray study was performed. Unexpected atypical findings were discussed in the light of the characteristics of CNVs.</p><p><strong>Conclusions: </strong>In conclusion, the microarray method has a great contribution in explaining many unexpected findings in TS cases. Moreover, those CNV findings may contribute for the explanation of the underlying mechanisms of those anomalies.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1161-1168"},"PeriodicalIF":1.4,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40687415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}