Journal of pediatric endocrinology & metabolism : JPEM最新文献

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Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing. 新一代测序筛查非综合征性早发儿童和青少年肥胖患者LEP、LEPR、MC4R和POMC基因变异
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-07-08 Print Date: 2022-08-26 DOI: 10.1515/jpem-2022-0027
Özlem Nalbantoğlu, Filiz Hazan, Sezer Acar, Semra Gürsoy, Behzat Özkan
{"title":"Screening of non-syndromic early-onset child and adolescent obese patients in terms of <i>LEP, LEPR, MC4R</i> and <i>POMC</i> gene variants by next-generation sequencing.","authors":"Özlem Nalbantoğlu,&nbsp;Filiz Hazan,&nbsp;Sezer Acar,&nbsp;Semra Gürsoy,&nbsp;Behzat Özkan","doi":"10.1515/jpem-2022-0027","DOIUrl":"https://doi.org/10.1515/jpem-2022-0027","url":null,"abstract":"<p><strong>Objectives: </strong>Non-syndromic monogenic obesity is a rare cause of early-onset severe obesity in the childhood period. The aim of this study was to screen four obesity related genes (<i>LEP, LEPR, MC4R</i> and <i>POMC</i>) in children and adolescents who had severe, non-syndromic early onset obesity.</p><p><strong>Methods: </strong>Next-generation sequencing of all exons in <i>LEP, LEPR, MC4R</i> and <i>POMC</i> was performed in 154 children and adolescents with early onset severe obesity obesity.</p><p><strong>Results: </strong>Fifteen different variants in nineteen patients were identified with a variant detection rate of 12.3%. While six different heterozygous variants were observed in <i>MC4R</i> gene (10/154 patients; 6.5%), five different variants in <i>POMC</i> gene (four of them were heterozygous and one of them was homozygous) (6/154 patients; 3.9%) and four different homozygous variants in <i>LEPR</i> gene (3/154 patients; 1.9%) were described. However, no variants were detected in the LEP gene. The most common pathogenic variant was c.496G>A in <i>MC4R</i> gene, which was detected in four unrelated patients. Six novel variants (6/15 variants; 40%) were described in seven patients. Four of them including c.233C>A and c.752T>C in <i>MC4R</i> gene and c.761dup and c.1221dup in <i>LEPR</i> gene were evaluated as pathogenic or likely pathogenic.</p><p><strong>Conclusions: </strong>In conclusion, MC4R variants are the most common genetic cause of monogenic early-onset obesity, consistent with the literature. The c.496G>A variant in <i>MC4R</i> gene is highly prevalent in early-onset obese patients.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1041-1050"},"PeriodicalIF":1.4,"publicationDate":"2022-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40481673","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}
引用次数: 4
Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report. Fanconi-Bickel综合征颅缝闭合1例报告。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-07-07 Print Date: 2022-09-27 DOI: 10.1515/jpem-2022-0150
Matthew M Demczko, Tullis T Liu, Joseph A Napoli
{"title":"Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report.","authors":"Matthew M Demczko,&nbsp;Tullis T Liu,&nbsp;Joseph A Napoli","doi":"10.1515/jpem-2022-0150","DOIUrl":"https://doi.org/10.1515/jpem-2022-0150","url":null,"abstract":"<p><strong>Objectives: </strong>Craniosynostosis may be a rare but severe complication of Fanconi-Bickel syndrome (FBS). Both conditions can be associated with feeding intolerance in young children. Prompt recognition and correction of increased intracranial pressure may lead to improved dietary tolerance in FBS patients and decrease morbidity.</p><p><strong>Case presentation: </strong>We present the case of a child with genetically confirmed FBS, severe feeding intolerance and evidence of metabolic bone disease. At two years of age, a diagnosis of multi-sutural craniosynostosis with increased intracranial pressure was made. The patient underwent cranial vault expansion using distraction osteogenesis, after which his feeding intolerance completely resolved.</p><p><strong>Conclusions: </strong>This case highlights the importance of monitoring for secondary craniosynostosis in patients with FBS and frequent emesis. Objective markers of bone health may help identify children at highest risk, though the actual mechanism of development is likely multifactorial. Increased awareness of this potential association should prompt more routine screening and improve outcomes.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1201-1205"},"PeriodicalIF":1.4,"publicationDate":"2022-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40577817","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}
引用次数: 0
The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report. 1例矮小、生长激素缺乏和常染色体显性皮肤松弛症儿童对生长激素治疗的反应。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-07-01 Print Date: 2022-09-27 DOI: 10.1515/jpem-2022-0054
Mirela E Iancu, Alice I Albu, Dragoș N Albu
{"title":"The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report.","authors":"Mirela E Iancu,&nbsp;Alice I Albu,&nbsp;Dragoș N Albu","doi":"10.1515/jpem-2022-0054","DOIUrl":"https://doi.org/10.1515/jpem-2022-0054","url":null,"abstract":"<p><strong>Objectives: </strong>The aetiology of short stature in cutis laxa (CL) syndromes is largely unknown. Herein, we report a case with autosomal dominant CL type 3 (ADCL3) with severe short stature and growth hormone (GH) deficiency.</p><p><strong>Case presentation: </strong>A male patient with a genetically confirmed diagnosis of ADCL3 was referred for endocrinological evaluation of short stature at the age of 3.4 years. The examination revealed severe proportional short stature (-4.14 standard deviations (SD) score for height) in a patient born small for gestational age (birth weight 2080 g, -2.46 SD, birth length 41 cm, -4.22 SD). Assessment of GH reserve with two clonidine stimulation tests (0.15 mg/m<sup>2</sup>) with peak GH values of 8.07 ng/mL and 2.98 ng/mL, respectively, were indicative of GH deficiency. Also, the MRI examination revealed a small size pituitary. Thus, the treatment with somatropin was started. The height deficit significantly improved (from -4.14 SD to -1.48 SD) without side effects during the follow-up of 4.5 years.</p><p><strong>Conclusions: </strong>With this report, the GH deficiency as a possible cause of short stature in ADCL3 and the response to somatropin administration were reported for the first time in the literature.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1211-1214"},"PeriodicalIF":1.4,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40411097","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}
引用次数: 0
Evaluation of the growth and nutritional status of preschool children: a pilot study in the cold area of China. 中国寒区学龄前儿童生长与营养状况评价的初步研究。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-06-30 Print Date: 2022-08-26 DOI: 10.1515/jpem-2022-0042
Nan Wang, Yue Cao, Xin Chen, Mengyun Sun, Lingyu Ma, Xuezheng Dai, Yan Zhao
{"title":"Evaluation of the growth and nutritional status of preschool children: a pilot study in the cold area of China.","authors":"Nan Wang,&nbsp;Yue Cao,&nbsp;Xin Chen,&nbsp;Mengyun Sun,&nbsp;Lingyu Ma,&nbsp;Xuezheng Dai,&nbsp;Yan Zhao","doi":"10.1515/jpem-2022-0042","DOIUrl":"https://doi.org/10.1515/jpem-2022-0042","url":null,"abstract":"<p><strong>Objectives: </strong>The growth and development of children is influenced not only by heredity factors but also by environmental factors, including nutrition and temperature. The aim of this study was to evaluate the growth and nutritional status of preschool children in Daxing'anling, the coldest region of China.</p><p><strong>Methods: </strong>A descriptive, cross-sectional survey was performed among preschool children aged 3-6 years by stratified cluster sampling in Daxing'anling. The children's parents completed the questionnaires. Height, body weight and head circumference were measured, and Z scores for weight for height, weight for age, height for age and head circumference for age were evaluated. Anthropometric data were compared with World Health Organization standards and China's growth references. The levels of vitamin A, E and 25-(OH)-D<sub>3</sub> in serum were detected by high-performance liquid chromatography.</p><p><strong>Results: </strong>A total of 305 children were recruited. The average height of the preschool children was lower than China's growth reference but higher than the WHO standard. More than half of the preschool children ranged from -1 SD to +1 SD. Both the values of weight for height and of weight for age were positive and higher than the WHO standards (p<0.01), with a significant difference between boys and girls (p<0.01). The incidences of stunting, wasting, and underweight were 4.59%, 2.95%, and 2.30%, respectively, although the prevalence of overweight and obesity was high (18.03% and 6.89%, respectively). The rates of vitamin A and D deficiency were 7.54% and 88.85%, respectively. Vitamin A was also positively associated with 25-(OH)-D<sub>3</sub>.</p><p><strong>Conclusions: </strong>The burden of malnutrition in preschool children exists in cold regions, and a cold climate may be an important factor. Therefore, we should pay attention to the nutrition and physical growth of local preschool children; in particular, vitamin D deficiency should be given high priority, and necessary nutritional interventions should be made.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1020-1027"},"PeriodicalIF":1.4,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40551175","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}
引用次数: 0
Arterial hypertension is associated with an increased risk of metabolic complications in pediatric patient with obesity. 动脉高血压与儿童肥胖患者代谢并发症的风险增加有关。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-06-30 Print Date: 2022-08-26 DOI: 10.1515/jpem-2022-0205
Anna Stępniewska, Małgorzata Wójcik, Jerzy B Starzyk
{"title":"Arterial hypertension is associated with an increased risk of metabolic complications in pediatric patient with obesity.","authors":"Anna Stępniewska,&nbsp;Małgorzata Wójcik,&nbsp;Jerzy B Starzyk","doi":"10.1515/jpem-2022-0205","DOIUrl":"https://doi.org/10.1515/jpem-2022-0205","url":null,"abstract":"<p><strong>Objectives: </strong>Coexistence of arterial hypertension (AH) in children with obesity increases morbidity and shortens life. Its role as an indicator of coexisting metabolic complications is however less known. The objective of the study was to compare metabolic profiles of children with obesity and with or without AH.</p><p><strong>Methods: </strong>We included patients aged 10-18 with the BMI Z-score ≥2. Diagnosis of AH was based on the European Society of Hypertension criteria (2016). Metabolic profiles were assessed by glucose and insulin levels taken before and after glucose load, fasting levels of triglycerides (TG), total (TC), low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol, and HOMA-IR.</p><p><strong>Results: </strong>Of 534 patients, 33.5% were diagnosed with AH. The AH patients, as compared to non-AH, had higher fasting insulin levels (22 vs. 19.7 mIU/L, p=0.04), HOMA-IR (4.5 vs. 4.0, p=0.029), and post-load glucose level (6.3 vs. 5.7, p=0.000041). No differences in the post-load insulin levels (113 vs. 100 mIU/L, p=0.056), fasting glucose (4.5 vs. 4.5 mmol/L, p=0.5), or lipids were found (TC: 4.4 vs. 4.4 mmol/L, p=0.9; LDL: 2.7 vs. 2.7, p=0.2; TG: 1.4 vs. 1.4 mmol/L, p=0.5; HDL: 1.1 vs. 1.2, p=0.3.</p><p><strong>Conclusions: </strong>Concomitance of AH in children with obesity may be an indicator of coexisting metabolic complications.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1028-1032"},"PeriodicalIF":1.4,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40551199","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}
引用次数: 1
Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term. 血清spexin水平与出生时的大小无关,但与足月出生的青春期前儿童的代谢综合征成分有关。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-03-28 Print Date: 2022-05-25 DOI: 10.1515/jpem-2021-0721
Fatma Duygu Öztürk Önsal, Gizem Kara Elitok, Ali Bülbül, Ahmet Uçar
{"title":"Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term.","authors":"Fatma Duygu Öztürk Önsal,&nbsp;Gizem Kara Elitok,&nbsp;Ali Bülbül,&nbsp;Ahmet Uçar","doi":"10.1515/jpem-2021-0721","DOIUrl":"https://doi.org/10.1515/jpem-2021-0721","url":null,"abstract":"<p><strong>Background: </strong>Babies born small for gestational age (SGA) are at risk of obesity and metabolic syndrome (MetS). Spexin (SPX) is a novel peptide implicated in food intake and obesity. Spexin levels are lower in obese subjects. This study investigated the potential association of SPX and some obesity related peptides such as leptin and active ghrelin with size at birth and MetS components in prepubertal children born term and either SGA or appropriate for GA (AGA). Secondary aim was to identify whether any of the investigated peptides were associated with MetS components.</p><p><strong>Methods: </strong>We conducted a cross-sectional study of 37 consecutive (median age: 5.6 y) SGA- and 50 (median age: 5.9 y) AGA-born children. Clinical evaluations were performed using standard methods. Several biochemical variables (SPX, total leptin, and active ghrelin levels) were analyzed. Age-dependent cut-off values were used to define MetS components, including excess adiposity, hypertension, insulin resistance, and dyslipidemia. The associations between the assessed clinical and laboratory variables and MetS components were investigated.</p><p><strong>Results: </strong>Children born SGA had higher frequencies of MetS components than AGA-born peers (p < 0.01). None of the investigated peptides were different between children born SGA and AGA after correcting for body mass index (p > 0.05 for all). Serum SPX levels were lower in children with at least one metS component than those without MetS components (p = 0.018).</p><p><strong>Conclusions: </strong>Size at birth had no association with serum SPX. Serum SPX levels are decreased in prepubertal children with MetS components.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"649-655"},"PeriodicalIF":1.4,"publicationDate":"2022-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40328295","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}
引用次数: 1
Moderating effect of bone maturation on the relationship between body fat and insulin resistance. 骨成熟对体脂与胰岛素抵抗关系的调节作用。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-03-28 Print Date: 2022-05-25 DOI: 10.1515/jpem-2021-0663
Luis Flores, Isabel Fragoso, Lidia G De León, Briseidy Ortiz-Rodríguez, Ramón Candia-Luján, Claudia Carrasco-Legleu
{"title":"Moderating effect of bone maturation on the relationship between body fat and insulin resistance.","authors":"Luis Flores,&nbsp;Isabel Fragoso,&nbsp;Lidia G De León,&nbsp;Briseidy Ortiz-Rodríguez,&nbsp;Ramón Candia-Luján,&nbsp;Claudia Carrasco-Legleu","doi":"10.1515/jpem-2021-0663","DOIUrl":"https://doi.org/10.1515/jpem-2021-0663","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of the present study was to analyze the moderating effect of maturation on the relationship between body fat and insulin resistance, in children from 9 to 12 years.</p><p><strong>Methods: </strong>Maturity offset, homeostasis model assessment index of insulin resistance (HOMA-IR), and body fat percentage (BF%) were estimated in 127 children. Skeletal maturation indicator (SMI) was estimated in 105 participants. A moderation analysis based on a linear regression and on Johnson-Neyman technique was performed using a 95% confidence level.</p><p><strong>Results: </strong>BF%, insulin levels, and HOMA-IR values were lower in late maturers than on-time maturers (p<0.05). SMI moderated the relationship between BF% and HOMA-IR index in 11.1% of boys and in 32.5% of girls (p<0.05). Also, the highest values of HOMA-IR index were observed at -1 year to achieve the peak height velocity, in girls (p<0.05).</p><p><strong>Conclusions: </strong>Maturation process has a moderation effect on the relationship BF% and insulin resistance, particularly in early maturers; furthermore, it was independently associated with HOMA-IR.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"577-583"},"PeriodicalIF":1.4,"publicationDate":"2022-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40319660","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}
引用次数: 0
The attitudes, experiences, and self-competencies of pediatric endocrinology fellows and attending physicians regarding diabetes technology: the Turkey experience. 儿科内分泌学研究员和主治医师对糖尿病技术的态度、经验和自我能力:土耳其经验。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-03-25 Print Date: 2022-05-25 DOI: 10.1515/jpem-2022-0024
Gul Yesiltepe Mutlu, Erdal Eren, Elif Eviz, Tugba Gokce, Sibel Sakarya, Sukru Hatun
{"title":"The attitudes, experiences, and self-competencies of pediatric endocrinology fellows and attending physicians regarding diabetes technology: the Turkey experience.","authors":"Gul Yesiltepe Mutlu,&nbsp;Erdal Eren,&nbsp;Elif Eviz,&nbsp;Tugba Gokce,&nbsp;Sibel Sakarya,&nbsp;Sukru Hatun","doi":"10.1515/jpem-2022-0024","DOIUrl":"https://doi.org/10.1515/jpem-2022-0024","url":null,"abstract":"<p><strong>Background: </strong>Unlike in Western countries, the use of diabetes technologies has been limited in Turkey, or at least until the last few years. This low adoption frequency may be attributed to the lack of experience of pediatric diabetes teams in working with new technologies. The aim of this study is to evaluate the attitudes, experiences and self-efficacies of pediatric endocrinology fellows and attending physicians in terms of use of continuous subcutaneous insulin infusion (CSII) therapy and continuous glucose monitoring (CGM) systems.</p><p><strong>Methods: </strong>The questionnaire used in this study consisted of 63 questions including 10 questions evaluating the demographic characteristics and experience of the participants, 33 Likert-type questions related to self-competency, 17 yes/no questions and 3 open-ended questions which evaluated attitudes towards our study area. This questionnaire was e-mailed to pediatric endocrinology fellows and attending physicians working in Turkey.</p><p><strong>Results: </strong>A total of 24 fellows and 28 attending physicians working in the field of pediatric endocrinology participated in the survey. Of the respondents, 61% reported that there was no formal training curriculum regarding diabetes technology at their institutions. The mean scores obtained from the Likert scale questions measuring self-competency in using CSII and CGM were 3.8 and 3.3 out of 5, respectively. Of the respondents, 55% judged themselves to be under-skilled in interpreting pump reports while 39% of the respondents reported themselves as being under-skilled in interpreting CGM reports.</p><p><strong>Conclusions: </strong>While it is true that training programs for using diabetes technology have been established by the National Pediatric Endocrinology Association in Turkey, the development of a specific curriculum for institutions that provide pediatric endocrinology fellowship training in this framework will increase the self-confidence of pediatric endocrinologists in this matter and this will ultimately contribute to the improvement of the metabolic control of children with diabetes.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"611-616"},"PeriodicalIF":1.4,"publicationDate":"2022-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40328294","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}
引用次数: 2
Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities. 与先天性垂体功能低下相关的新型OTX2功能缺失变异,无眼部异常。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-03-24 Print Date: 2022-06-27 DOI: 10.1515/jpem-2021-0719
Mariana Griffero, Anna Flavia Figueredo Benedetti, Marcela Pérez, Luciani Carvalho, Alexander Jorge, Ana Claudia Latronico, Berenice Mendonca, Ivo Arnhold, Verónica Mericq
{"title":"Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.","authors":"Mariana Griffero,&nbsp;Anna Flavia Figueredo Benedetti,&nbsp;Marcela Pérez,&nbsp;Luciani Carvalho,&nbsp;Alexander Jorge,&nbsp;Ana Claudia Latronico,&nbsp;Berenice Mendonca,&nbsp;Ivo Arnhold,&nbsp;Verónica Mericq","doi":"10.1515/jpem-2021-0719","DOIUrl":"https://doi.org/10.1515/jpem-2021-0719","url":null,"abstract":"<p><strong>Objectives: </strong>The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including <i>OTX2</i>. <i>OTX2</i> mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations.</p><p><strong>Case presentation: </strong>We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in <i>OTX2</i> c.426dupC:p.(Ser143Leufs*2).</p><p><strong>Conclusions: </strong>Mutations in the transcription factor <i>OTX2</i> have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in <i>OTX2</i> associated with hypopituitarism without an ocular phenotype.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"831-835"},"PeriodicalIF":1.4,"publicationDate":"2022-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40317036","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}
引用次数: 0
Adiposity measures in screening for metabolic syndrome among Chinese children and adolescents. 中国儿童和青少年代谢综合征筛查中的肥胖措施。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-03-22 Print Date: 2022-05-25 DOI: 10.1515/jpem-2021-0307
Zhaoxie Tang, Chen Yang, Hao Zheng, Jiajia Jing, Xiuhong Li, Yanna Zhu
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