Pediatric Endocrinology, Diabetes and Metabolism最新文献

{"title":"Transient severe hypotonic hyponatraemia in children - presentation of three cases.","authors":"Joanna A Chrzanowska, Julia Wodniakowska, Aleksander Basiak, Agnieszka Zubkiewicz-Kucharska, Robert Śmigiel","doi":"10.5114/pedm.2024.140933","DOIUrl":"10.5114/pedm.2024.140933","url":null,"abstract":"<p><p>Hyponatraemia, defined as sodium concentration below 135 mmol/l, is one of the most common electrolyte imbalances. Differential diagnosis of hyponatraemia is difficult. We describe 3 cases of children with transient, severe hyponatraemia (< 125 mmol/l). While diagnosing hyponatraemia, it is of major importance to carefully ask in the anamnesis about habits related to the amount of fluid intake and the type of consumed fluids. It should also be noted that a frequent procedure during an infection is to increase fluid ingesting as a prevention of dehydration. One, however, should remember about the possibility of inducing water poisoning in a patient consuming excessive amounts of hypotonic fluids, especially when exposed to non-osmotic antidiuretic hormone stimulus, such as an acute infection or stress, and/or reduced renal excretory capacity. Only the presence of polyuria does not justify a diagnosis of arginine vasopressin deficiency (AVP-D), and especially the implementation of desmopressin treatment before all diagnostic procedures are completed, specifically in the case of hyponatraemia. Desmopressin can be used simultaneously with intravenous 3% saline solution only in the treatment of a very severe hyponatraemia, to avoid overcorrection of natraemia. In patients after profound hyponatraemia, polyuria can be observed after normalisation of fluid intake, but it is temporary.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 2","pages":"97-103"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Precocious puberty and other endocrine disorders during mitotane treatment for paediatric adrenocortical carcinoma - case series and literature review.","authors":"Elżbieta Moszczyńska, Marta Baszyńska-Wilk, Aleksandra Tutka, Agnieszka Bogusz-Wójcik, Patrycja Dasiewicz, Olga Gryniewicz-Kwiatkowska, Małgorzata Walewska-Wolf, Maria Stepaniuk, Dorota Majak, Wiesława Grajkowska","doi":"10.5114/pedm.2023.133315","DOIUrl":"10.5114/pedm.2023.133315","url":null,"abstract":"<p><strong>Introduction: </strong>Adrenocortical carcinoma (ACC) is rare and an aggressive tumour. Mitotane is the mainstay adjuvant drug in treating ACC. The study aimed to describe patients diagnosed with precocious puberty (PP) and other endocrinological complications during mitotane therapy.</p><p><strong>Material and methods: </strong>This retrospective study enrolled 4 patients with ACC treated with mitotane therapy complicated by PP. We analysed clinical manifestations, radiological, histopathological findings, and hormonal results.</p><p><strong>Results: </strong>The median age at the diagnosis of ACC was 1.5 years. All patients were treated with surgery and mitotane, accompanied by chemotherapy regimens in 2 cases. The median time from surgery to the initiation of mitotane therapy was 26 days. During mitotane treatment, PP was confirmed based on symptoms, and hormonal and imaging tests. In one patient, incomplete peripheral PP was followed by central PP. The median time from the therapy initiation to the first manifestations of PP was 4 months. Additionally, due to mitotane-induced adrenal insufficiency, patients required a supraphysiological dose of hydrocortisone (HC), and in one patient, mineralocorticoid (MC) replacement with fludrocortisone was necessary. In 2 patients, hypothyroidism was diagnosed. All patients presented neurological symptoms of varying expression, which were more severe in younger children.</p><p><strong>Conclusions: </strong>The side effects of using mitotane should be recognized quickly and adequately treated. In prepubertal children, PP could be a complication of therapy. The need to use supraphysiological doses of HC, sometimes with MC, should be highlighted. Some patients require levothyroxine replacement therapy. The neurotoxicity of mitotane is a significant clinical problem.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 1","pages":"14-28"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11037260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transient clitoromegaly in an extremely preterm twin infant with popliteal pterygium.","authors":"Lavinia La Grasta Sabolić, Ana Kovačević, Lucija Ana Trtanj, Bernardica Valent Morić, Jasna Tumbri","doi":"10.5114/pedm.2024.142585","DOIUrl":"10.5114/pedm.2024.142585","url":null,"abstract":"<p><p>Clitoromegaly can be congenital or acquired, and it is usually associated with exposure to androgen excess. Pathophysiological mechanisms responsible for transient clitoromegaly in premature female infants have not been fully elucidated. Herein, we present the case of an extremely premature female twin infant, with an extensive web of skin on the back of the left leg, hypoplastic left labia majora, and normal clitoris appearance at birth. At the age of 48 days, clitoral enlargement was observed. Significantly elevated levels of gonadotropins, testosterone, and dehydroepiandrosterone sulphate (DHEAS) were recorded. 17-hydroxyprogesterone (17OHP) was unremarkable, and anti-Müllerian hormone (AMH) was low, in accordance with normal female karyotype. Ovaries were not visualised ultrasonographically. During the following weeks, gradual normalisation of gonadotropin, testosterone, and DHEAS levels was accompanied by regression of clitoromegaly. As described in this case, transient clitoral enlargement may appear in extremely premature female infants due to transitory elevated androgens of ovarian and adrenal origin.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 3","pages":"163-167"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inherited metabolic disorders… …do not miss treatable diseases….","authors":"Maria Giżewska","doi":"10.5114/pedm.2024.138665","DOIUrl":"https://doi.org/10.5114/pedm.2024.138665","url":null,"abstract":"","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724692","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":"Importance of diet in children and adolescents with obesity and asthma.","authors":"Monika Soczewka, Andrzej Kędzia, Bogda Skowrońska, Elżbieta Niechciał","doi":"10.5114/pedm.2024.140936","DOIUrl":"10.5114/pedm.2024.140936","url":null,"abstract":"<p><p>Both obesity and asthma are increasingly being diagnosed in the childhood population. Obesity is linked to a greater asthma morbidity, and it increases the risk of severity of the disease course. The association between these 2 disorders has not yet been fully elucidated; however, several putative factors have been proposed related to mechanical and inflammatory aspects of obesity. Diet is an important adjustable element in obesity and asthma management. An unhealthy diet based on processed food is likely to promote chronic inflammation in both conditions; hence, appropriate nutrition should be an integral part of the children's therapy. This review discusses dietary models that have a positive impact on patient health.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 2","pages":"91-96"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249804/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deficiency of arginine vasopressin in children - diagnostic and therapeutic approaches to improve patients' quality of life based on a 25-year, single-centre retrospective analysis.","authors":"Dorota Roztoczyńska, Anna Iwańska, Anna Wędrychowicz, Dominika Januś, Agata Zygmunt-Górska, Małgorzata Wójcik, Jerzy Starzyk","doi":"10.5114/pedm.2024.146684","DOIUrl":"10.5114/pedm.2024.146684","url":null,"abstract":"<p><strong>Introduction: </strong>Arginine vasopressin deficiency (AVD) encompasses disorders marked by polyuria, polydipsia, hypernatraemia, and hyperosmolality. This study aims to refine diagnostic and therapeutic strategies to enhance the quality of life for AVD patients.</p><p><strong>Material and methods: </strong>We conducted a 25-year retrospective analysis of imaging, hormonal, auxological, and densitometric data from 31 children diagnosed with AVD at the Department of Paediatric and Adolescent Endocrinology, Children's Hospital in Krakow between 1998 and 2023.</p><p><strong>Results: </strong>The average duration from the onset of symptoms to AVD diagnosis was 10 months (range: 1-86 months), and from diagnosis to aetiology determination was 14 months (range: 0-86 months). Causes of AVD included idiopathic (9.7%), central nervous system tumours (61%), pituitary adenoma (5.2%), central nervous system malformations (9.7%), head trauma (6.5%), haemorrhage or hydrocephalus (6.5%), familial AVD (3.2%), and inflammatory central nervous system conditions (3.2%). Growth retardation was observed in 48.4% of cases, obesity in 41.9%, hormonal disorders in 61.3%, and low bone mass in 16.1%.</p><p><strong>Conclusions: </strong>We developed a diagnostic and metabolic evaluation scheme for AVD that facilitates earlier aetiology identification and helps prevent hormonal, metabolic, and bone complications. This approach is crucial for improving the quality of life in both developmental and adult stages for these patients.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 4","pages":"198-210"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11809552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of different types of meals on postprandial glycaemia in healthy subjects.","authors":"Agnieszka Lejk, Karolina Myśliwiec, Przemysława Jarosz-Chobot","doi":"10.5114/pedm.2024.142587","DOIUrl":"10.5114/pedm.2024.142587","url":null,"abstract":"<p><p>Nowadays, continuous glycaemic monitoring systems are used primarily for diabetic patients. The most popular continuous glycaemic monitoring (CGMs) measure the glucose concentration in the interstitial fluid every 1 or 5 minutes, providing the patient with 288 or 1,440 measurements in a day. CGM is also useful for observing sudden changes in glycaemia after the introduction of dietary interventions and those related to physical activity. Peri-prandial glycaemia is defined as the change in blood glucose levels depending on the carbohydrate-containing meal consumed. A state of peri-prandial hyperglycaemia begins when blood glucose levels rise above the level of 140 mg/dl (7.8 mmol/l) within 1-2 hours after food intake in healthy people without diabetes. The influence of the peri-prandial glycaemic response is briefly related to the amount and type of food consumed. Optimising the glycaemic profile is important for our health. The purpose of this article is to summarise the current knowledge of the effects of various meals on peri-prandial glycaemia in healthy individuals.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 3","pages":"159-162"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human growth hormone therapy - in three stages: past, present, and future.","authors":"Maciej Hilczer, Mieczysław Walczak","doi":"10.5114/pedm.2024.140935","DOIUrl":"10.5114/pedm.2024.140935","url":null,"abstract":"","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 2","pages":"49-50"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Importance of simulation-based medical education and its application in diabetology.","authors":"Paulina Pokrywka, Halla Kamińska, Przemysława Jarosz-Chobot","doi":"10.5114/pedm.2024.136280","DOIUrl":"10.5114/pedm.2024.136280","url":null,"abstract":"","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 1","pages":"45-47"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11037088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infant of a diabetic mother: clinical presentation, diagnosis and treatment.","authors":"Magdalena Suda-Całus, Katarzyna Dąbrowska, Ewa Gulczyńska","doi":"10.5114/pedm.2024.137891","DOIUrl":"10.5114/pedm.2024.137891","url":null,"abstract":"<p><p>An infant of a diabetic mother is defined as a newborn born to a mother who has diabetes during pregnancy. The term diabetic mother refers to pregnant women with diabetes diagnosed either before (type 1 or 2 diabetes) or during pregnancy (gestational diabetes). Rising incidence of type 1 and type 2 diabetes in young women and increasing maternal age at conception account for the higher risk of birth complications and adverse maternal and infant outcomes. Infants of diabetic mothers (IDMs) because of mother's diabetes are prone to developing complications and the most common include: large birth weight and complications resulting from it (i.e. birth injuries, perinatal asphyxia), cardiovascular and respiratory insufficiency (poor tolerance of labor stress), neonatal hypoglycemia and it's complications, delayed lung maturity (fetal hyperinsulinism and the opposite function of insulin to cortisol), cardiomegaly and hypertrophy of the intraventricular septum (functional narrowing of the outflow of the left ventricle and cardiac failure), congenital malformations (most often of the central nervous system and heart). Less common complications in IDMs are: persistent pulmonary hypertension, hyperbilirubinemia, renal vein thrombosis, small left colon syndrome, intrauterine death, polycythemia, and a predisposition to obesity, insulin resistance and diabetes later in life. This article presents current knowledge about pathological conditions and the recommended management for IDMs.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 1","pages":"36-41"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11037090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}