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

The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group. 丹吉尔病在儿童年龄组的临床表现和遗传学诊断。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-16 Print Date: 2025-03-26 DOI: 10.1515/jpem-2024-0335

Selcan Öztürk, Muhammet Ensar Doğan, Banu Kadıoğlu Yılmaz, Ayten Güleç, Pembe Soylu Üstkoyuncu, Fatih Kardaş, Hakan Gümüş, Hüseyin Per

{"title":"The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.","authors":"Selcan Öztürk, Muhammet Ensar Doğan, Banu Kadıoğlu Yılmaz, Ayten Güleç, Pembe Soylu Üstkoyuncu, Fatih Kardaş, Hakan Gümüş, Hüseyin Per","doi":"10.1515/jpem-2024-0335","DOIUrl":"10.1515/jpem-2024-0335","url":null,"abstract":"Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.Methods: This retrospective and cross-sectional study investigated seven patients from three different families diagnosed with TD.Results: Four of seven patients were girls. Median age was 5.7 years at symptom onset and 6.5 years at diagnosis. The index case presented with neuropathy findings, and TD was diagnosed based on genetic analysis. Low lipid levels were determined in a sibling and cousins with cardiac death and gait disturbance in the family. TD was confirmed by genetic investigation. Our other patients were evaluated due to anemia, thrombocytopenia, yellow-orange hypertrophy in the tonsils, and organomegaly. Diagnosis was established with genetic analysis and low HDL. No coronary artery disease or ocular involvement was observed in any case.Conclusions: All patients presenting with neuropathy and gait disorders should undergo detailed tonsil examinations and HDL tests. Genetic analysis should be carried out if necessary. Family screening should be recommended to patients with consanguineous marriages after diagnosis of TD.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"271-278"},"PeriodicalIF":1.3,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015001","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

Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes. 扩大3β-羟基-δ5- c27 -类固醇脱氢酶（HSD3B7）缺乏症的基因型谱：新的突变和临床结果

IF 1 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-14 Print Date: 2025-05-26 DOI: 10.1515/jpem-2024-0454

Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Sevinç Garip, Fatma Ilknur Varol, Şükrü Güngör, Didem Gulcu Taskin, Kanay Yararbaş

{"title":"Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.","authors":"Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Sevinç Garip, Fatma Ilknur Varol, Şükrü Güngör, Didem Gulcu Taskin, Kanay Yararbaş","doi":"10.1515/jpem-2024-0454","DOIUrl":"10.1515/jpem-2024-0454","url":null,"abstract":"Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the HSD3B7 gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.Case presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes. All cases exhibited cholestasis with normal GGT levels and elevated AST/ALT. Case 1, a male infant, also presented with craniosynostosis and failure to thrive, responding well to cholic acid therapy. Case 2, a female infant and first cousin of Case 1, had mild cardiac abnormalities and showed slight improvement with ursodeoxycholic acid and vitamin supplementation. Case 3, a male infant with a compound HSD3B7 and ATP8B1 mutation, progressed to fulminant liver failure, ultimately requiring a liver transplant. A novel c.531 + 1G>C variant was identified in Cases 1 and 2, contributing to understanding genotype-phenotype correlations in bile acid synthesis disorders.Conclusions: Early diagnosis and treatment with bile acid therapy are crucial for improving outcomes, although some cases may necessitate liver transplantation. This series emphasizes the need to consider bile acid synthesis disorders in the differential diagnosis of cholestasis.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"546-550"},"PeriodicalIF":1.0,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973063","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

Adrenal hypoandrogenism in adolescents with premature ovarian insufficiency. 青少年卵巢功能不全伴肾上腺雄激素减退。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-10 Print Date: 2025-03-26 DOI: 10.1515/jpem-2024-0415

Meliha Esra Bilici, Zeynep Şıklar, Semra Çetinkaya, Elif Özsu, Zehra Aycan, Merih Berberoğlu

{"title":"Adrenal hypoandrogenism in adolescents with premature ovarian insufficiency.","authors":"Meliha Esra Bilici, Zeynep Şıklar, Semra Çetinkaya, Elif Özsu, Zehra Aycan, Merih Berberoğlu","doi":"10.1515/jpem-2024-0415","DOIUrl":"10.1515/jpem-2024-0415","url":null,"abstract":"Objectives: Premature ovarian insufficiency (POI) affects 1 in 10,000 children, with its molecular causes largely unknown. Adult studies suggest that low androgen levels induce ovarian insufficiency, but data on about this in children is limited. This study aims to assess the prevalence of low androgen levels in childhood POI and its relationship with adrenal insufficiency.Methods: Idiopathic POI adolescents were categorized into two groups based on DHEAS and total testosterone (TT) measured by chemiluminescence. Low androgen group (LAG) was defined using cut-offs according to Tanner pubarche staging. Demographic, clinical, and laboratory data were compared. Morning cortisol <7 μg/dL and/or ACTH >96 or <5 pg/mL were planned to undergo ACTH stimulation testing, with a peak cortisol response <18 μg/dL considered insufficient.Results: Forty-three adolescents, mean age 15.5 ± 1.3 years with a 46, XX karyotype, normal FMR1 mutation, FSH levels >40 mIU/mL, and low AMH levels were included. In 14 cases (37.8 %), DHEAS and TT were low. In the LAG, pubarche was absent in seven patients, and initial height SDS was significantly lower. Morning cortisol ranged from 7.9 to 23.5 μg/dL, with an ACTH of 29.4 ± 9.7 pg/mL. No differences in adrenal steroids or correlations between DHEAS and ACTH were observed.Conclusions: Diminished androgen levels are prevalent in children with idiopathic POI. The potential for this condition to increase the risk of adrenal insufficiency and its impact on secondary ovarian insufficiency remains unclear. This study, the first of its kind in children, underscores the potential role of genetic factors in zona reticularis and ovarian development.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"262-270"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142957899","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

Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant. 7例尼曼-匹克c型患者的临床表现和分子遗传学：一个新的变异病例系列。

IF 1 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-10 Print Date: 2025-05-26 DOI: 10.1515/jpem-2024-0530

Cemre Kara, Engin Köse, Fatma Tuba Eminoğlu

{"title":"Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.","authors":"Cemre Kara, Engin Köse, Fatma Tuba Eminoğlu","doi":"10.1515/jpem-2024-0530","DOIUrl":"10.1515/jpem-2024-0530","url":null,"abstract":"Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the NPC1 or NPC2 genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.Case presentation: We report seven NPC patients from five families, showcasing the variability in clinical manifestations. The most common finding was hepatosplenomegaly (70 %), followed by prolonged jaundice (57 %) and neonatal cholestasis. Pulmonary alveolar proteinosis (PAP) was observed in three patients with biallelic pathogenic variants in the NPC2 gene. Neurological symptoms, including vertical gaze palsy and epilepsy, were noted in patients with juvenile onset form. Genetic analyses identified a novel homozygous c.315del (p.Thr106ProfsTer5) variant in the NPC2 gene, associated with early infantile onset.Conclusions: NPC presents with diverse clinical findings across ages. Early hepatic symptoms in infants and neuropsychiatric issues in older patients warrant a high index of suspicion for NPC in such cases. A multidisciplinary approach is crucial for patient management, and further research is needed to clarify genotype-phenotype relationships in NPC.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"539-545"},"PeriodicalIF":1.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142957901","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

Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management. 苯丙酮尿症和3型酪氨酸血症共存：饮食管理的挑战。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-10 Print Date: 2025-03-26 DOI: 10.1515/jpem-2024-0378

Arzu Selamioğlu, Tuğba Kozanoğlu, İlknur Hacıoğlu, Mehmet Cihan Balcı, Meryem Karaca, Asuman Gedikbaşı, Bülent Uyanık, Gülden Gökçay

{"title":"Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management.","authors":"Arzu Selamioğlu, Tuğba Kozanoğlu, İlknur Hacıoğlu, Mehmet Cihan Balcı, Meryem Karaca, Asuman Gedikbaşı, Bülent Uyanık, Gülden Gökçay","doi":"10.1515/jpem-2024-0378","DOIUrl":"10.1515/jpem-2024-0378","url":null,"abstract":"Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).Case presentation: We report a 5-year-old girl diagnosed with both PKU and HT3. She presented with elevated Phe levels in neonatal screening, and subsequent biochemical tests revealed both hyperphenylalaninemia and elevated Tyr levels. Genetic analysis confirmed the diagnoses, identifying homozygous mutations in both the PAH and HPD genes. Dietary management to maintain optimal Phe and Tyr levels proved to be challenging due to the presence of these two coexisting pathologies especially during infections and due to dietary non-compliance, necessitating frequent adjustments in the treatment strategy.Conclusions: This case highlights the importance of considering multiple metabolic disorders in patients with unexplained clinical and biochemical findings. Early diagnosis and stringent dietary management are crucial for preventing neurological damage and ensuring favorable outcomes in patients with concurrent metabolic disorders.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"292-298"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142958075","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

Acrodermatitis dysmetabolica: lessons from two pediatric cases. 代谢性肢端皮炎：两个儿科病例的经验教训。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-07 Print Date: 2025-03-26 DOI: 10.1515/jpem-2024-0542

Ayça Burcu Kahraman, Meryem Sıla Cosar, Ekrem Eren Dogan, Yaşar Ünlü, Cuneyt Ugur, Zafer Bagcı

引用次数: 0

Thyroid surgery in pediatric age: a 10-year experience at a single center and literature review. 甲状腺手术在儿童年龄：十年的经验在一个单一的中心和文献回顾。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-06 Print Date: 2025-03-26 DOI: 10.1515/jpem-2024-0464

Orhan Asya, Ali Cemal Yumusakhuylu, Yavuz Gundogdu, Omer Faruk Kuyumcu, Serap Turan, Tulay Guran, Busra Gurpinar Tosun, Cagatay Oysu

{"title":"Thyroid surgery in pediatric age: a 10-year experience at a single center and literature review.","authors":"Orhan Asya, Ali Cemal Yumusakhuylu, Yavuz Gundogdu, Omer Faruk Kuyumcu, Serap Turan, Tulay Guran, Busra Gurpinar Tosun, Cagatay Oysu","doi":"10.1515/jpem-2024-0464","DOIUrl":"10.1515/jpem-2024-0464","url":null,"abstract":"Objectives: Surgery interventions for thyroid disorders are rare in pediatric population. This study aims to present our institution's 10-year experience regarding the surgical treatment and outcomes of thyroid pathologies in children and review the literature.Methods: All pediatric patients who underwent thyroid surgery at our institution from April 2013 to October 2023 were retrospectively reviewed.Results: The study included 57 patients with a median age of 15 years. 38 patients (66.6 %) were female, and 19 patients (33.3 %) were male. The most common indication for thyroid surgery was a nodule (71.9 %), followed by Graves' disease (10.5 %), multinodular goiter (8.7 %), and familial multiple endocrine neoplasia syndrome (8.7 %). Of the 57 patients, 36 (63.2 %) were diagnosed with thyroid neoplasia, with 28 (77.8 %) having papillary thyroid carcinoma (PTC), three (8.3 %) having medullary thyroid carcinoma (MTC), two (5.6 %) having follicular thyroid carcinoma (FTC). Temporary unilateral vocal cord paralysis and permanent unilateral vocal cord paralysis were seen in three patients (5.3 %) and in two patients (3.5 %) respectively. Persistent hypocalcemia and permanent hypoparathyroidism were noted in two patients (3.5 %), while transient hypocalcemia was observed in 13 patients (22.8 %). The presence of neoplasm did not appear to be associated with the incidence of hypocalcemia or vocal cord paralysis (p=0.115 and 0.652, respectively).Conclusions: Thyroid pathologies in pediatric patients necessitate a multidisciplinary approach. Surgical management should be carefully evaluated in accordance with pediatric guidelines. Complication rate significantly decreases when surgery is performed by experienced surgeon.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"201-206"},"PeriodicalIF":1.3,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928702","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

Short- to medium-term follow-up of normoponderal children and adolescents with subclinical hypothyroidism: a retrospective study of the last 15 years. 亚临床甲状腺功能减退症儿童和青少年的中短期随访：最近15年的回顾性研究。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-03 Print Date: 2025-02-25 DOI: 10.1515/jpem-2024-0341

Inês Moreira Esteves, Rita Aldeia da Silva, Mariana Oliveira Pereira, Mariana Portela, Olinda Marques, Sofia Martins, Ana Antunes, Aurélio Mesquita, Maria Miguel Gomes

{"title":"Short- to medium-term follow-up of normoponderal children and adolescents with subclinical hypothyroidism: a retrospective study of the last 15 years.","authors":"Inês Moreira Esteves, Rita Aldeia da Silva, Mariana Oliveira Pereira, Mariana Portela, Olinda Marques, Sofia Martins, Ana Antunes, Aurélio Mesquita, Maria Miguel Gomes","doi":"10.1515/jpem-2024-0341","DOIUrl":"10.1515/jpem-2024-0341","url":null,"abstract":"Objectives: Subclinical hypothyroidism (SCH) is defined by elevated thyroid-stimulating hormone (TSH) levels (>5 mUI/L) and normal total and free thyroxine levels (fT4). There is ongoing debate over whether mild SCH should be treated. This study aims to assess the clinical course of normoponderal pediatric patients with SCH.Methods: Retrospective study, involving normoponderal children and adolescents with SCH, followed at the Pediatrics Department of Hospital de Braga, from December 2007 to December 2022.Results: We identified 47 children and adolescents with confirmed SCH. No sex predominance was found. The median age at diagnosis was 11 years. Most cases were idiopathic (59.6 %) and diagnosed during puberty (57.5 %). The majority (46.8 %) experienced spontaneous remission, while 38.3 % required levothyroxine (LT) therapy. Discharged patients were followed for a median of 25 months. No significant differences were seen in body mass index z-score, fT4 levels, heart rate, blood pressure, or lipid parameters. Significant differences were found in thyroid-stimulating hormone (TSH) levels and LT dosage. Thyroid peroxidase antibody (TPOAb) positivity was significantly correlated with SCH's natural history. Although initial TSH levels were not significantly associated with SCH's natural course, they predict treatment need. Individuals with initial TSH levels >6.47 mUI/L were more likely to require therapy. In the third year of follow-up, a significant strong negative correlation was found between TSH levels and high-density lipoprotein cholesterol.Conclusions: SCH was self-limiting and benign in most cases. TPOAb positivity was a predictor of SCH's natural history, and the need for treatment was predicted by initial TSH levels.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"120-131"},"PeriodicalIF":1.3,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916137","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

Laparoscopic adrenalectomy in children with diverse adrenal pathologies: the impact of pre-operative imaging in decision making process. 不同肾上腺病理儿童腹腔镜肾上腺切除术：术前影像学对决策过程的影响。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-01 Print Date: 2025-02-25 DOI: 10.1515/jpem-2024-0490

Dragan Kravarusic, Osher Cohen, Zaki Elias Assi, Boaz Markel, Osnat Konen, Orly Rafael, Yael Dreznik

{"title":"Laparoscopic adrenalectomy in children with diverse adrenal pathologies: the impact of pre-operative imaging in decision making process.","authors":"Dragan Kravarusic, Osher Cohen, Zaki Elias Assi, Boaz Markel, Osnat Konen, Orly Rafael, Yael Dreznik","doi":"10.1515/jpem-2024-0490","DOIUrl":"10.1515/jpem-2024-0490","url":null,"abstract":"Objectives: The aim of this study was to assess the impact of pre-operative imaging regarding selecting cases of children's who underwent laparoscopic adrenalectomy due to adrenal masses in two tertiary medical centers.Methods: We performed a retrospective review of all laparoscopic adrenalectomy performed at two tertiary medical centers in Israel between 2017 and 2023.Results: Sixteen (n=16) patients, 10 girls and six boys, underwent laparoscopic adrenalectomy through a transperitoneal approach. The median age was 10 years (range: eight months to 17.3 years). Six masses were incidentalomas. Preoperative imaging (ultrasonography, CT, and MRI) demonstrated a mass in the right adrenal (n=9) and left adrenal (n=7), with tumor sizes ranging from 1.8 to 5.3 cm in maximum diameter. Operative results showed minimal blood loss and no conversions to laparotomy. There were no postoperative complications. Pathological diagnoses included neuroblastoma (n=8), cortical hormone-secreting tumors (n=3), pheochromocytoma (n=2), adrenal cortical adenoma (n=2), and adrenal metastatic Ewing sarcoma (n=1). Eleven masses were defined as benign and five as malignant tumors.Conclusions: Laparoscopic adrenalectomy appears to be a safe and effective technique in selected cases with adrenal masses. Among our cohort, malignant masses were more common compared to the predominantly benign adrenal masses seen in adults. Vascular encasement was a major factor in determining the feasibility of the laparoscopic approach, with preoperative imaging playing a critical role in this assessment.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"38 2","pages":"116-119"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191245","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

Newborn screening follow-up in Bavaria: height and weight in paediatric patients with congenital adrenal hyperplasia. 巴伐利亚州新生儿筛查随访：先天性肾上腺增生患儿的身高和体重。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-01 Print Date: 2025-02-25 DOI: 10.1515/jpem-2024-0389

Ilja Dubinski, Carola Marzi, Uta Nennstiel, Katharina Schiergens, Heinrich Schmidt, Birgit Odenwald

{"title":"Newborn screening follow-up in Bavaria: height and weight in paediatric patients with congenital adrenal hyperplasia.","authors":"Ilja Dubinski, Carola Marzi, Uta Nennstiel, Katharina Schiergens, Heinrich Schmidt, Birgit Odenwald","doi":"10.1515/jpem-2024-0389","DOIUrl":"10.1515/jpem-2024-0389","url":null,"abstract":"Objectives: Auxology is essential for monitoring congenital adrenal hyperplasia (CAH). Data from prospective studies of newborn screening (NBS) are scarce.Methods: Analysis of data extracted from a population-based prospective long-term follow-up survey study of children detected through NBS in Bavaria in 1999-2018. The study is based on standardized parent or patient questionnaires, supplemented by medical reports. Height, weight, and treatment data of 146 children/adolescents with classical CAH were analyzed. The entire observation period up to the age of 18 years was completed by 55 patients. Standard Deviation Scores (SDS) for height/body-mass-index (BMI) at different ages and the deviation of the height SDS at age 18 years from the parental target-height SDS were calculated.Results: Male and female patients with CAH showed different and altered growth patterns, resulting in a median [IQR] SDS deviation from target height of -0.81 [-1.05, -0.41] in males and -0.35 [-0.90, 0.02] in females. BMI-SDS values were significantly (p<0.05) increased in males aged 6-16 years and in females aged 2 and 8-12 years. The average total steroid dose was higher in males (p<0.001). For deviations from target height, significant associations were found with sex (p<0.05) and adherence (p<0.01), but not with mutation group or steroid-dose. For BMI, none of the parameters showed a significant correlation.Conclusions: Early treatment after NBS has helped to improve, but not to normalize, the development of height and weight in patients with CAH. Optimizing monitoring and treatment, preferably sex-specific, remains a challenge for clinical practice and research.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"38 2","pages":"132-145"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191294","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