Journal of Pediatric Endocrinology & Metabolism最新文献_第5页

Children and adolescents with differentiated thyroid cancer from 1998 to 2018: a retrospective analysis. 1998年至2018年分化型甲状腺癌的儿童和青少年：回顾性分析。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-07-22 Print Date: 2024-09-25 DOI: 10.1515/jpem-2024-0191

Wei Li, Shanling Zhang, Zilu Gao, Yingjie Tao, Xudong Wang, Junping Cheng

{"title":"Children and adolescents with differentiated thyroid cancer from 1998 to 2018: a retrospective analysis.","authors":"Wei Li, Shanling Zhang, Zilu Gao, Yingjie Tao, Xudong Wang, Junping Cheng","doi":"10.1515/jpem-2024-0191","DOIUrl":"10.1515/jpem-2024-0191","url":null,"abstract":"Objectives: This study aims to investigate the clinical features of differentiated thyroid carcinoma (DTC) in children and adolescents under 18 years and assess the impact of surgery combined with thyroid hormone and radioactive iodine (RAI) on their prognosis.Methods: A retrospective observational study was conducted, involving children/adolescents with DTC who underwent surgery at the Head and Neck Department of Tianjin Medical University Cancer Institute and Hospital from January 1998 to December 2018.Results: Among 198 patients, 130 (65.7 %) were female. According to the American Thyroid Association guidelines, cases were categorized as low (106, 53.5 %), intermediate (54, 27.3 %), and high (38, 19.2 %) risk. The follow-up duration ranged from 3 to 23 years. Local recurrence and distant metastasis were identified in 21 (10.6 %) and 14 (7.1 %) cases, respectively. All patients received levothyroxine, while RAI therapy was administered to intermediate- and high-risk patients. The local recurrence and distant metastasis rates in these two groups were 33.3 and 39.5 %, respectively, with no recurrence or metastasis in the low-risk group. Persistent without structural evidence of disease were 0.9, 3.7, and 26.3 % at end of follow-up for the low-, intermediate-, and high-risk groups, respectively. The overall survival rates for all three groups were 100 %, while disease-free survival rates were 99.1, 63.0, and 34.2 % for the low-, intermediate-, and high-risk groups, respectively.Conclusions: Children/adolescents with low-risk DTC exhibited a favorable prognosis even without RAI. However, intermediate- and high-risk DTC patients, despite RAI and levothyroxine treatment, showed elevated rates of persistent disease, local recurrence, and distant metastasis.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"796-803"},"PeriodicalIF":1.3,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

STX16 exon 5-7 deletion in a patient with pseudohypoparathyroidism type 1B. 一名假性甲状旁腺功能亢进症 1B 型患者的 STX16 第 5-7 号外显子缺失。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-07-22 Print Date: 2024-08-27 DOI: 10.1515/jpem-2023-0562

Li Chen, Chuanbin Yang, Xiaoxiao Zhang, Beibei Chen, Peibing Zheng, Tingting Li, Wenjing Song, Hua Gao, Xiaofang Yue, Jiajun Yang

{"title":"STX16 exon 5-7 deletion in a patient with pseudohypoparathyroidism type 1B.","authors":"Li Chen, Chuanbin Yang, Xiaoxiao Zhang, Beibei Chen, Peibing Zheng, Tingting Li, Wenjing Song, Hua Gao, Xiaofang Yue, Jiajun Yang","doi":"10.1515/jpem-2023-0562","DOIUrl":"10.1515/jpem-2023-0562","url":null,"abstract":"Objectives: Pseudohypoparathyroidism (PHP) comprises a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone (PTH) resistance. PHP type 1B (PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16. STX16 exon 2-6 deletion is commonly observed in autosomal dominant (AD)-PHP1B, while sporadic PHP1B commonly results from methylation abnormalities of maternal differentially methylated regions and remains unclear at the molecular level.Case presentation: A 39-year-old male patient with PHP1B, who had his first seizure at 15 years of age, presented to our hospital. The methylation-specific multiplex ligation-dependent probe amplification results showed a half-reduced copy number of STX16 exon 5-7 and loss of methylation at GNAS exon A/B. His mother also had a half-reduced copy number of STX16 exon 5-7 but with normal methylation of GNAS. His father has a normal copy number of STX16 and normal methylation of GNAS.Conclusions: For the recognition and early diagnosis of this kind of disease, here we report the clinical symptoms, auxiliary examinations, genetic testing characteristics, and treatment of the patient.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"734-740"},"PeriodicalIF":1.3,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

SRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma. 一名表型为特纳样的中国女性青少年卵巢发育不良瘤和性腺母细胞瘤患者的SRY阳性45,X/46,XY核型。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-07-09 Print Date: 2024-08-27 DOI: 10.1515/jpem-2023-0448

Jiahong Zhou, Ping Zhan, Yang Cheng, Qing Luo, Li Chai, Lan Yuan, Xidan Zhu, Jinbo Liu

{"title":"SRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma.","authors":"Jiahong Zhou, Ping Zhan, Yang Cheng, Qing Luo, Li Chai, Lan Yuan, Xidan Zhu, Jinbo Liu","doi":"10.1515/jpem-2023-0448","DOIUrl":"10.1515/jpem-2023-0448","url":null,"abstract":"Objectives: 45,X/46,XY mosaicism is a rare condition with clinical and genetic heterogeneity and have a greatly increased risk of developing germ cell tumors. We describe a rare 45,X/46,XY Chinese girl with malignant tumors, especially focusing on the molecular genetics of gonadal tumor.Case presentation: We report a phenotypically Turner-like Chinese adolescent girl who presented primary amenorrhea and a pelvic mass as the chief complaint, which finally demonstrated dysgerminoma replacing the left gonad and gonadoblastoma arising from right gonad respectively. Her chromosome karyotype was 45,X(4)/46,XY(46); Y-chromosome microdeletions in AZFb regions were found on gonadal DNA rather than peripheral blood lymphocyte (PBL) DNA, while no variants were found in the promoter and coding region of SRY gene in both PBL and gonadal tissues. She underwent bilateral gonadectomy; no recurrence or serious complications were identified after 3 years of follow-up.Conclusions: This case emphasizes the probable correlation between Y chromosome microdeletions in gonadal tissue and the severity of the phenotype in patients with 45,X/46,XY mosaicism and highlights the importance of clinical genetic testing at the chromosomal and molecular level.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"750-755"},"PeriodicalIF":1.3,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B. 一名患有 PHA1B 的伊朗男孩的 SCNN1A 基因发生了新的同源突变。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-07-05 Print Date: 2024-08-27 DOI: 10.1515/jpem-2023-0505

Fatemeh Saffari, Ensiyeh Bahadoran, Ali Homaei, Sahar Moghbelinejad

{"title":"Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B.","authors":"Fatemeh Saffari, Ensiyeh Bahadoran, Ali Homaei, Sahar Moghbelinejad","doi":"10.1515/jpem-2023-0505","DOIUrl":"10.1515/jpem-2023-0505","url":null,"abstract":"Objectives: Pseudohypoaldosteronism type 1 (PHA1) has two genetically distinct variants, including renal and systemic forms. Systemic PHA type I (PHA1B) has varying degrees of clinical presentation and results from mutations in genes encoding subunits of the epithelial sodium channel (ENaC) including the alpha, beta, and gamma subunits. To date, about 45 variants of PHA1B have been identified.Case presentation: We report a boy with PHA1B, who presented with vomiting, lethargy, and poor feeding due to salt wasting six days after birth. The patient had electrolyte imbalances. A novel SCNN1A (sodium channel epithelial subunit alpha) gene mutation, NM_001038.6:c.1497G>C, with an autosomal recessive pattern, was identified by whole exosome sequencing. This variant was inherited as a homozygote from both heterozygous parents.Conclusions: PHA should be considered in neonates with hyponatremia and hyperkalemia. This case report presents a patient with a novel mutation in SCNN1A that has not been previously reported. Long-term follow-up of identified patients to understand the underlying phenotype--genotype link is necessary.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"745-749"},"PeriodicalIF":1.3,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141499522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report. 伴有房室间隔缺损的二氢嘧啶酶缺乏症：病例报告。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-07-04 Print Date: 2024-08-27 DOI: 10.1515/jpem-2023-0518

İzzet Erdal, Yılmaz Yıldız, Oya Kuseyri Hübschmann, Dorothea Haas, Ceren Günbey, İlker Ertuğrul, Dilek Yalnızoğlu

{"title":"Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.","authors":"İzzet Erdal, Yılmaz Yıldız, Oya Kuseyri Hübschmann, Dorothea Haas, Ceren Günbey, İlker Ertuğrul, Dilek Yalnızoğlu","doi":"10.1515/jpem-2023-0518","DOIUrl":"10.1515/jpem-2023-0518","url":null,"abstract":"Objectives: Dihydropyrimidinase deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway, with fewer than 40 patients published. Clinical findings are variable and some patients may remain asymptomatic. Global developmental delay and increased susceptibility to 5-fluorouracil are commonly reported. Here we present atrioventricular septal defect as a novel feature in dihydropyrimidinase deficiency.Case presentation: A four-year-old male with global developmental delay, dysmorphic facies, autistic features and a history of seizures was diagnosed with dihydropyrimidinase deficiency based on strikingly elevated urinary dihydrouracil and dihydrothymine and a homozygous pathogenic nonsense variant in DPYS gene. He had a history of complete atrioventricular septal defect corrected surgically in infancy.Conclusions: This is the second report of congenital heart disease in dihydropyrimidinase deficiency, following a single patient with a ventricular septal defect. The rarity of the disease and the variability of the reported findings make it difficult to describe a disease-specific clinical phenotype. The mechanism of neurological and other systemic findings is unclear. Dihydropyrimidinase deficiency should be considered in patients with microcephaly, developmental delay, epilepsy and autistic traits. We suggest that congenital heart disease may also be a rare phenotypic feature.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"741-744"},"PeriodicalIF":1.3,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Robust growth hormone responses to GH-releasing peptide 2 in adolescents. 青少年对促生长激素释放肽 2 的强大生长激素反应。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-07-04 Print Date: 2024-08-27 DOI: 10.1515/jpem-2024-0115

Takanori Onuki, Tadokoro Hiroaki, Kentaro Sawano, Nao Shibata, Hiromi Nyuzuki, Yohei Ogawa, Masayasu Okada, Hirohito Sone, Keisuke Nagasaki

{"title":"Robust growth hormone responses to GH-releasing peptide 2 in adolescents.","authors":"Takanori Onuki, Tadokoro Hiroaki, Kentaro Sawano, Nao Shibata, Hiromi Nyuzuki, Yohei Ogawa, Masayasu Okada, Hirohito Sone, Keisuke Nagasaki","doi":"10.1515/jpem-2024-0115","DOIUrl":"10.1515/jpem-2024-0115","url":null,"abstract":"Objectives: GH-releasing peptide-2 (GHRP2) can be used for provocative growth hormone testing (GHT). Since it acts as a powerful stimulus for GH secretion, cut-off peak GH level in GHRP2 loading test (GHRP2T) is higher than in other GHT. Nevertheless, data on response at adolescents are limited. This report aimed to investigate peak GH levels in GHRP2T in adolescents.Methods: Clinical data of adolescents after onset of puberty who underwent GHRP2T at our institution from May 2010 to March 2023 were collected retrospectively. Subjects were classified into three groups according to underlying diseases.Results: A total of 23 patients were included: 12 in organic or genetic GHD (o/gGHD) group, three in idiopathic GHD (iGHD) group, and eight in short stature (SS) group. The median GH peak levels were 3.4 ng/mL in o/gGHD group, 88.9 ng/mL in iGHD group, and 90.1 ng/mL in SS group, indicating a robust response of GH peak levels in iGHD and SS groups. Two patients exceeded the cut-off for GHRP2T but below for other GHT, indicating the current cut-off for GHRP2T may miss some GHD patients.Conclusions: The GH response to GHRP2T in adolescents except the o/gGHD group may be robustly responsive. For the correct diagnosis of GHD, the cut-off peak GH levels in GHRP2T in adolescents may require revisiting.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"730-733"},"PeriodicalIF":1.3,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Glucose and lipid-related indicators in relation to elevated alanine aminotransferase in a pediatric population. 儿科人群中与丙氨酸氨基转移酶升高有关的血糖和血脂相关指标。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-06-28 Print Date: 2024-07-26 DOI: 10.1515/jpem-2024-0092

Azin Momeni, Maryam Yazdi, Mohammad Esmail Motlagh, Mostafa Qorbani, Roya Kelishadi

{"title":"Glucose and lipid-related indicators in relation to elevated alanine aminotransferase in a pediatric population.","authors":"Azin Momeni, Maryam Yazdi, Mohammad Esmail Motlagh, Mostafa Qorbani, Roya Kelishadi","doi":"10.1515/jpem-2024-0092","DOIUrl":"10.1515/jpem-2024-0092","url":null,"abstract":"Objectives: To determine the associations between various glucose and lipid-related indicators with elevated alanine aminotransferase (ALT) in pediatric population.Methods: We analyzed the cross-sectional data of 3,771 Iranian children and adolescents aged 7-18 years using the fifth survey of a national school-based surveillance program. The predictive power of 11 different glucose and lipid-related indicators for predicting elevated ALT was examined using receiver operating characteristic (ROC) curve.Results: In the total sample non-HDL-C, non-HDL-C/HDL-C, and TC/HDL-C showed the largest area under the curve (AUC) for elevated ALT detection, with 0.731 (cut-off, 129.5 mg/dL), 0.706, and 0.706, respectively. In girls, non-HDL-C had the highest predictive value (AUC, 0.741, cut-off, 129.5 mg/dL). Among boys, non-HDL-C/HDL-C and TC/HDL-C showed the largest AUC of 0.753 with optimum cut-off values of 2.63 and 3.63, respectively.Conclusions: The findings of this study suggest that non-HDL-C, non-HDL-C/HDL-C, and TC/HDL-C can be predictors of elevated ALT in the pediatric population. These indices can be useful in large population-based studies for predicting children and adolescents at risk of fatty liver.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"597-604"},"PeriodicalIF":1.3,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mental disorders in children and adolescents with type 1 diabetes before and during the COVID-19 pandemic: results from the DPV registry. COVID-19 大流行之前和期间 1 型糖尿病儿童和青少年的精神障碍：DPV 登记的结果。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-06-21 Print Date: 2024-07-26 DOI: 10.1515/jpem-2024-0129

Esther Müller-Godeffroy, Stefanie Schmid, Christina Reinauer, Angela Galler, Dörte Hilgard, Louise Marshall, Thomas Kapellen, Eggert Lilienthal, Kirsten Mönkemöller, Burkhard Brosig, Christine Prchla, Reinhard W Holl

{"title":"Mental disorders in children and adolescents with type 1 diabetes before and during the COVID-19 pandemic: results from the DPV registry.","authors":"Esther Müller-Godeffroy, Stefanie Schmid, Christina Reinauer, Angela Galler, Dörte Hilgard, Louise Marshall, Thomas Kapellen, Eggert Lilienthal, Kirsten Mönkemöller, Burkhard Brosig, Christine Prchla, Reinhard W Holl","doi":"10.1515/jpem-2024-0129","DOIUrl":"10.1515/jpem-2024-0129","url":null,"abstract":"Objectives: The COVID-19 pandemic affected the mental health of children and adolescents in the general population, yet its impact on those with chronic conditions is relatively unknown. This study aimed to compare the incidences of comorbid mental disorders and substance misuse in children and adolescents with type 1 diabetes before and during the pandemic.Methods: A total of 42,975 patients aged 6-18 years from the multicentre DPV (Diabetes Prospective Follow-up) registry were included. Multivariable regression models were applied to compare newly diagnosed comorbid mental disorders, adjusted for demographic and clinical variables, among them the number of medical visits, during the pre-pandemic period (09/2017-02/2020) and the COVID-19 pandemic period (03/2020-08/2022).Results: Analysing both sexes together, there were no differences in the incidence rates of overall mental disorders between the pandemic and the pre-pandemic period. However, girls showed an increased incidence rate (odds ratio 1.2, CI 1.1-1.3) during the pandemic. Adolescent girls also displayed higher incidence rates of depression, eating disorders, and self-harm. Substance misuse declined overall during the pandemic (odds ratio 0.8, CI 0.7-0.9).Conclusions: During the COVID-19 pandemic, we found higher incidence rates of overall mental disorders in girls, but not in boys and not in the total study population of children and adolescents with type 1 diabetes. Adolescent girls displayed increased incidence rates of depression, eating disorders, and self-harm. Substance misuse declined substantially. Clinicians should be aware of the high-risk group of adolescent girls during times of increased strain.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"586-596"},"PeriodicalIF":1.3,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141437799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Growth hormone therapy does not impact the development of intracranial hypertension in children with Chiari malformation. 生长激素治疗不会影响Chiari畸形患儿颅内高压的发展。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-05-24 Print Date: 2024-07-26 DOI: 10.1515/jpem-2024-0064

Matthew D Krasnow, Liam McGuirk, Alice Alexandrov, Monica Naparst, Tara Patale, Shilpa Mehta, Richard Noto

{"title":"Growth hormone therapy does not impact the development of intracranial hypertension in children with Chiari malformation.","authors":"Matthew D Krasnow, Liam McGuirk, Alice Alexandrov, Monica Naparst, Tara Patale, Shilpa Mehta, Richard Noto","doi":"10.1515/jpem-2024-0064","DOIUrl":"10.1515/jpem-2024-0064","url":null,"abstract":"Objectives: Patients with Chiari malformation (CM) are prone to a variety of neurological sequelae, including benign intracranial hypertension (BIH). In these patients, BIH is attributed to impaired cerebrospinal fluid (CSF) flow due to anatomical abnormalities of the posterior fossa. Occasionally, patients with CM may require growth hormone therapy (GHT), which can increase the production of CSF. It is thought that patients with CM who undergo GHT are at high risk of BIH-associated symptoms (BIHAS). We describe the incidence of neurological symptoms in 34 patients with CM before and during GHT.Methods: The database of a pediatric endocrinology center was queried for patients with CM who received GHT from 2010-22. Records were reviewed for adverse events. Demographic and radiological data were collected and analyzed. Patients with neoplastic disease, active inflammation, or acute trauma were excluded. CM diagnoses were independently assigned by a neuroradiology department. Patients were grouped based on the presence and nature of symptoms before and during GHT. Relationships between starting dose/BMI and occurrence of BIHAS/all GHT-associated symptoms were evaluated.Results: GHT was not associated with new-onset or worsening of preexisting BIHAS in 33 out of 34 patients with CM. Five complex patients continued to have preexisting BIHAS, which did not worsen. Of the four patients who developed new-onset BIHAS during GHT, three patients' symptoms were attributed to other medical conditions. No patient permanently discontinued GHT due to BIHAS.Conclusions: Growth hormone therapy is likely a safe treatment in patients with Chiari malformation and is unlikely to cause BIHAS.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"630-634"},"PeriodicalIF":1.3,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141082370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children. 土耳其儿童因 ALB 基因 Arg242 His 变异而患家族性白蛋白血症性高甲状腺素血症 (FDH)。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-05-14 Print Date: 2024-06-25 DOI: 10.1515/jpem-2023-0506

Doga Turkkahraman, Merve Gullu, Suat Tekin, Tarkan Kalkan

引用次数: 0