Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"Severe consumptive hypothyroidism in hepatic hemangioendothelioma.","authors":"Antonia Walther,&nbsp;Beate Häberle,&nbsp;Julia Küppers,&nbsp;Eberhard Lurz,&nbsp;Irene Schmid,&nbsp;Heinrich Schmidt,&nbsp;Ilja Dubinski","doi":"10.1515/jpem-2022-0347","DOIUrl":"https://doi.org/10.1515/jpem-2022-0347","url":null,"abstract":"<p><strong>Objectives: </strong>Consumptive hypothyroidism may occur in hepatic hemangioendothelioma. The altered expression of deiodinases inactivates peripheral thyroid hormones. As a result, serum levels of free triiodothyronine and free thyroxine are reduced to varying degrees. There are no established recommendations for the dosage of sirolimus for this particular indication. We describe for the first time the course of treatment with low-dose sirolimus.</p><p><strong>Case presentation: </strong>We present a 5-week-old infant with hepatic hemangioendothelioma and severe consumptive hypothyroidism. Due to hepatic infiltration he showed signs of right heart strain. Therapy of hemangioendothelioma was initiated with propranolol and, in the absence of response, methylprednisolone was added. Treatment was continued with low-dose sirolimus (due to side effects) and propranolol. Hypothyroidism was managed with levothyroxine and liothyronine.</p><p><strong>Conclusions: </strong>Consumptive hypothyroidism due to cutaneous hemangioma and hepatic hemangioendothelioma can be managed with propranolol and low-dose sirolimus. Treatment of severe hypothyroidism may require a combinational therapy by substitution of both T3 and T4.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1560-1564"},"PeriodicalIF":1.4,"publicationDate":"2022-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40393658","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":"Efficacy of aromatase inhibitor therapy in a case with large cell calcifying Sertoli cell tumour-associated prepubertal gynaecomastia.","authors":"Gözde Akın Kağızmanlı,&nbsp;Özge Besci,&nbsp;Kübra Yüksek Acinikli,&nbsp;Gül Şeker,&nbsp;Elif Yaşar,&nbsp;Yeşim Öztürk,&nbsp;Korcan Demir,&nbsp;Ece Böber,&nbsp;Ayhan Abacı","doi":"10.1515/jpem-2022-0368","DOIUrl":"https://doi.org/10.1515/jpem-2022-0368","url":null,"abstract":"<p><strong>Objectives: </strong>Large cell calcifying Sertoli cell tumours (LCCSCTs) are one of the infrequent causes of prepubertal gynaecomastia. Most of these tumours are in the content of Peutz-Jeghers syndrome (PJS) or other familial syndromes (Carney complex).</p><p><strong>Case presentation: </strong>Here, we report a long-term follow-up of an 8.5-year-old prepubertal boy with a diagnosis of PJS, who presented with bilateral gynaecomastia, advanced bone age and accelerated growth velocity, and were found to have bilateral multifocal testicular microcalcifications. As the findings were compatible with LCCSCT, anastrozole was initiated. Gynaecomastia completely regressed and growth velocity and pubertal development were appropriate for age during follow-up. Testicular lesions slightly increased in size. After four years of medication, anastrozole was discontinued but was restarted due to the recurrence of gynaecomastia after six months.</p><p><strong>Conclusions: </strong>Testicular tumour should be investigated in a patient with PJS who presents with prepubertal gynaecomastia. When findings are consistent with LCCSCT, aromatase inhibitors may be preferred in the treatment.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1565-1570"},"PeriodicalIF":1.4,"publicationDate":"2022-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40384950","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":"Use of letrozole to augment height outcome in pubertal boys: a retrospective chart review.","authors":"Snigdha R Likki,&nbsp;Holley F Allen,&nbsp;Alexander Knee,&nbsp;Ksenia N Tonyushkina","doi":"10.1515/jpem-2022-0177","DOIUrl":"https://doi.org/10.1515/jpem-2022-0177","url":null,"abstract":"<p><strong>Objectives: </strong>We describe growth patterns and predicted adult height (PAH) in pubertal boys treated with letrozole and evaluate the potential predictors of growth responses.</p><p><strong>Methods: </strong>We performed a retrospective analysis of data from 2002 to 2020. All subjects were treated for ≥6 months and had at least 3 height measurements to calculate the growth velocity (GV) before and during treatment. We evaluated growth measurements, bone age, and biochemical parameters before, during and after treatment.</p><p><strong>Results: </strong>A total of 59 subjects aged 12.7 (± 1.7) years old were included. At treatment initiation, bone age was 13.1 (± 1.5) years and predicted adult height (PAH) was 163.8 (± 9.9) cm compared to mid-parental height of 172.4 (± 5.8) cm. Growth velocity decreased during letrozole therapy and rebounded after completion. Sub-analysis of 26 subjects with bone age data available at baseline and at least 1 year later showed a trend to modest increase in PAH. In boys simultaneously receiving growth hormone (rhGH), the change in PAH was significantly more (3.2 cm, p<0.05) compared to those treated with letrozole alone.</p><p><strong>Conclusions: </strong>We show that letrozole appropriately slows down skeletal maturation and GV responses are variable. Possible negative predictors include lower baseline GV and advanced bone age. A small positive trend in PAH with letrozole therapy is augmented by simultaneous use of rhGH. Future randomized controlled trials are needed to better understand which group of patients will benefit from treatment.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1232-1239"},"PeriodicalIF":1.4,"publicationDate":"2022-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40377179","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":"Utility of head CT scan in treatment decisions for suspected cerebral edema in children with DKA.","authors":"Kristy Wilkinson,&nbsp;Sinha Sanghamitra,&nbsp;Priya Nair,&nbsp;Javier Sanchez,&nbsp;Shashikanth Ambati","doi":"10.1515/jpem-2022-0245","DOIUrl":"https://doi.org/10.1515/jpem-2022-0245","url":null,"abstract":"<p><strong>Objectives: </strong>Cerebral edema (CE) remains one of the most feared complications of diabetic ketoacidosis (DKA) with severe morbidity and mortality. The use of computerized tomography (CT) scan in the setting of suspected cerebral edema in DKA has been minimally studied. The objective of our study was to evaluate the utility of CT scans in children with suspected cerebral edema, and secondarily to analyze the various patient characteristics of those with and without cerebral edema.</p><p><strong>Methods: </strong>We performed a retrospective chart review of all the children with DKA secondary to T1DM admitted to our tertiary PICU in order to obtain demographic data, laboratory results, and their treatment course. Differences between the groups of suspected CE and no suspected CE were compared using linear and logistic regression for continuous and binary variables respectively.</p><p><strong>Results: </strong>We identified 251 patients with DKA, 12 of which had suspected CE; 67% (8/12) of those patients received head CT and 87.5% (7/8) of them were read as normal. On the other hand, 33% (4/12) did not receive CT scan of head, and yet three of the four patients were treated for CE.</p><p><strong>Conclusions: </strong>In our cohort of patients, CT results did not influence CE treatment or lack thereof; most patients with suspected CE were treated with or without head CT findings of CE, indicating that imaging has very little utility in our cohort of patients. In some cases, the use of head CT delayed the onset of treatment for CE.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1257-1263"},"PeriodicalIF":1.4,"publicationDate":"2022-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40380508","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":"Effects and dose-response relationship of exercise training on cardiometabolic risk factors in children with obesity.","authors":"Jingxin Liu,&nbsp;Lin Zhu,&nbsp;Zekai Chen,&nbsp;Jing Liao,&nbsp;Xiaoguang Liu","doi":"10.1515/jpem-2022-0395","DOIUrl":"https://doi.org/10.1515/jpem-2022-0395","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the dose-response relationship between physical activity and the improvement of cardiometabolic risks in children with obesity, and provide a reference for the recommendation of physical activity for obese children.</p><p><strong>Methods: </strong>A total of 96 children with obesity were recruited to participate in an exercise intervention program. An ActiGraph GT3X+ three-axis accelerometer was used to measure their physical activity. The dose groups (Q1∼Q4) were divided based on the quartiles of physical activity. The analysis of variance was used to compare the changes in body composition and cardiometabolic risk factors before and after the intervention.</p><p><strong>Results: </strong>All intervention groups showed a significant reduction in weight, body mass index, body fat percent, fat mass, fat free mass, and skeletal muscle mass (p<0.01), and the change in the Q4 and Q3 groups was greater than in the Q2 and Q1 groups. Triglyceride, total cholesterol, low-density lipoprotein cholesterol, systolic blood pressure (SBP), and diastolic blood pressure (DBP) were significantly reduced after intervention in all groups (p<0.01), and the change in SBP, and DBP in the Q4 group was higher than in the Q1 group (p<0.05).</p><p><strong>Conclusions: </strong>Exercise interventions could effectively improve body composition and cardiometabolic risk factors. A higher exercise dose is associated with significant improvements in body composition, and cardiometabolic health.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1278-1284"},"PeriodicalIF":1.4,"publicationDate":"2022-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40374548","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":"Children and adolescents with type 1 diabetes mellitus in Nigeria: clinical characteristics and compliance with care.","authors":"Idowu O Senbanjo,&nbsp;Ibironke J Akinola,&nbsp;Umar I Umar,&nbsp;Chineme H Anyabolu,&nbsp;Olufunmilola O Abolurin,&nbsp;Adesola O Adekoya,&nbsp;Olufunmilayo F Adeniyi,&nbsp;Akinlolu A Adepoju,&nbsp;Mohammad A Salisu,&nbsp;Garba D Gwarzo,&nbsp;Oluwatosin E Olorunmoteni,&nbsp;Osagie J Ugowe,&nbsp;Salma Suwaid,&nbsp;Oluwakemi O Ashubu,&nbsp;Musili B Fetuga,&nbsp;Abiola O Oduwole","doi":"10.1515/jpem-2022-0290","DOIUrl":"https://doi.org/10.1515/jpem-2022-0290","url":null,"abstract":"Abstract Objectives The prevalence of type 1 diabetes mellitus (T1DM) is increasing in most developed and developing countries. This study described the clinical characteristics and compliance with care among Nigerian children and adolescents with T1DM. Methods This was a cross-sectional descriptive multi-center study of children seen at the paediatric endocrinology clinic of seven selected tertiary health facilities in Nigeria. Information was collected on socio-demographics, clinical characteristics and compliance of the children with dietary recommendations and insulin therapy. Compliance with dietary recommendations and insulin therapy was graded as either good or poor based on defined criteria. Results The mean age of children was 13.1 ± 4.7 years. The mean age of children at the diagnosis of T1DM was 9.9 ± 4.2 years. Sixty-nine (60%) children were female while about half (47.8%) of the children were from the lower socioeconomic class. Compliance with insulin administration was good in 39.1% of the children and was significantly associated with the father’s (p=0.001) and mother’s educational status (p=0.024) while compliance with dietary recommendations was good in 20.0% of the children and was significantly associated with mother’s educational status (p=0.034) and family socioeconomic class (p=0.010). Only the mother’s level of education was independently and significantly associated with compliance to recommendations on insulin therapy (OR 4.2, 95% CI=1.5–11.6, p=0.007). Conclusions The compliance of children with dietary recommendations and insulin therapy was poor. Efforts should be strengthened at all healthcare facilities to educate parents on the need for compliance with management guidelines.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1377-1384"},"PeriodicalIF":1.4,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33489701","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":"Normal or elevated prolactin is a good indicator to show pituitary stalk interruption syndrome in patients with multiple pituitary hormone deficiency.","authors":"Erdal Eren,&nbsp;Yasemin Denkboy Ongen,&nbsp;Taner Ozgur,&nbsp;Rifat Ozpar,&nbsp;Ozgecan Demirbas,&nbsp;Zeynep Yazici,&nbsp;Omer Tarim","doi":"10.1515/jpem-2022-0366","DOIUrl":"https://doi.org/10.1515/jpem-2022-0366","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the importance of serum prolactin (PRL) in the detection of pituitary stalk interruption syndrome (PSIS) in children with multiple pituitary hormone deficiency (MPHD). We hypothesized that PRL elevation might be a diagnostic indicator of pituitary stalk pathologies.</p><p><strong>Methods: </strong>Clinical, radiological, and laboratory features of the 50 cases of MPHD were studied.</p><p><strong>Results: </strong>The median age at presentation of the 50 cases (52%, n=26 were female) was 6.61 (0.02-18.9) years. PSIS was detected in 60% (n=30), pituitary hypoplasia in 32% (n=16), partial empty sella in 6% (n=3), and only 2% (n=1) was reported as normal. Out of 50 patients, 21.3% (n=10) were hypoprolactinemic, 44.7% (n=19) were normoprolactinemic, and 34% (n=16) were hyperprolactinemic. The median PRL value was 27.85 (4.21-130) ng/mL in patients with PSIS and 5.57 (0-41.8) ng/mL in patients without PSIS. Additional hormone deficiencies, especially ACTH and LH were detected in follow-up.</p><p><strong>Conclusions: </strong>Patients with normal or high prolactin levels deserve special attention regarding the possibility of PSIS. Furthermore, we emphasize the importance of regular follow-up and monitoring for multiple pituitary hormone deficiencies in all patients with a single pituitary hormone deficiency.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1394-1400"},"PeriodicalIF":1.4,"publicationDate":"2022-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33469553","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":"Effects of exercise combined with diet intervention on body composition and serum biochemical markers in adolescents with obesity: a systematic review and meta-analysis.","authors":"Liangyu Zhao, Xiaosheng Dong, Yan Gao, Zhihao Jia, Suyue Han, Juntao Zhang, Yubo Gao","doi":"10.1515/jpem-2022-0193","DOIUrl":"10.1515/jpem-2022-0193","url":null,"abstract":"<p><strong>Background: </strong>This systematic review aims to evaluate the effects of exercise combined with diet (ECWD), exercise alone, diet alone, and no intervention on body composition and serum biochemical markers in adolescents with obesity to provide reference for solving the metabolic disorders of adolescents caused by obesity.</p><p><strong>Contents: </strong>Studies published before January 5, 2021 were retrieved from PubMed, Web of Science, Ovid, Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang data, VIP database, and SinoMed. Randomized controlled trials with an age between 10 and 20 years, body mass index (BMI) ≥28 kg/m² or ≥95th percentiles, no history of endocrine and metabolic diseases, heart disease, hematologic disease, and so on before the trial were included.</p><p><strong>Summary: </strong>Fifteen of the 50,155 studies met the criteria. Meta-analysis showed that ECWD was more effective in reducing BMI (kg/m²) (-2.45 kg/m², 95% CI: -3.06; -1.85) and fat thickness of back (-13.77 mm, 95% CI: -15.92; -11.62), abdomen (-11.56 mm, 95% CI: -14.04; -9.09), and upper arm (-14.81 mm, 95% CI: -16.74; -12.89) than other interventions; in reducing body fat (-7.03 kg, 95% CI: -9.77; -4.29) and thigh circumference (-4.05 cm, 95% CI: -5.58; -2.52), ECWD and diet alone were more effective than exercise alone; ECWD and exercise alone were more effective in reducing waist circumference (-6.05 cm, 95% CI: -8.37; -3.72), waist-to-hip ratio (WHR; -0.06, 95% CI: -0.11; -0.01), upper arm circumference (-2.57 cm, 95% CI: -3.70; -1.45), triglycerides (TG; -0.30 mmol/L, 95% CI: -0.45; -0.14), total cholesterol (TC; -0.30 mmol/L, 95% CI: -0.59; -0.01), and low density lipoprotein (LDL; -0.22 mmol/L, 95% CI: -0.40; -0.04) than diet alone. ECWD also had effects on tumor necrosis factor-α (TNF-α), interleukin-6, leptin, and so on.</p><p><strong>Outlook: </strong>ECWD is more effective than exercise alone, diet alone, or no intervention in solving the problems of body shape and metabolic disorder of adolescents with obesity.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1319-1336"},"PeriodicalIF":0.0,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40372081","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":"Disordered eating and behaviors among young Egyptians with type 1 diabetes: risk factors and comorbidities.","authors":"Safinaz Adel Elhabashy,&nbsp;Mariam William Abd ElMalak,&nbsp;Hanan Hany Elrassas,&nbsp;Rasha Adel Thabet","doi":"10.1515/jpem-2022-0336","DOIUrl":"https://doi.org/10.1515/jpem-2022-0336","url":null,"abstract":"<p><strong>Objectives: </strong>The study aimed to assess occurrence of eating disorders and its nature, associated risk factors, and comorbidities in a cohort of adolescents with type 1 diabetes (T1D).</p><p><strong>Methods: </strong>In this cross-sectional study, 138 patients were recruited to complete three questionnaires for assessment of eating disorder (ED); Eating Attitude Test (EAT-26) and Eat Behavior questionnaire (ORTO-15) and Eating Disorder Examination Questionnaire version 6 (EDE-Q6) to assess diabetes-related medical outcomes.</p><p><strong>Results: </strong>Patients were categorized as having an ED according to predetermined cutoff value for each questionnaire. Of the 138 patients, 24 (17.4%) had risk for EDs by EAT-26 score, 53 (38.4%) have got orthorexia nervosa by ORTO-15 and 45 (32.6%) were having a disordered eating behavior by EDE-Q6. Patients with risk of EDs had lower mean ORTO-15 score (p=0.01), and higher mean Global EDE-Q6 (p<0.001). A positive correlation was found between EAT-26 scores and both age (p<0.0001) and body mass index (p<0.0001). ORTO-15 score was correlated with duration of diabetes (p=0.0418). Diabetic ketoacidosis, peripheral neuropathy, and microalbuminuria occurred frequently in patients with ED high score. Hypoglycemic episodes were reported more in those with high EAT-26 or Global EDE-Q6 scores.</p><p><strong>Conclusions: </strong>Subclinical EDs and abnormal eating behaviors are common in Egyptian adolescents with T1D.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1385-1393"},"PeriodicalIF":1.4,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40373318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.","authors":"Álvaro Martín-Rivada,&nbsp;Ana Cambra Conejero,&nbsp;Elena Martín-Hernández,&nbsp;Ana Moráis López,&nbsp;Amaya Bélanger-Quintana,&nbsp;Elvira Cañedo Villarroya,&nbsp;Pilar Quijada-Fraile,&nbsp;Marcelo Bellusci,&nbsp;Silvia Chumillas Calzada,&nbsp;Ana Bergua Martínez,&nbsp;Sinziana Stanescu,&nbsp;Mercedes Martínez-Pardo Casanova,&nbsp;Pedro Ruíz-Sala,&nbsp;Magdalena Ugarte,&nbsp;Belén Pérez González,&nbsp;Consuelo Pedrón-Giner","doi":"10.1515/jpem-2022-0340","DOIUrl":"https://doi.org/10.1515/jpem-2022-0340","url":null,"abstract":"<p><strong>Objectives: </strong>We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA/MMA/MMAHC) since the Expanded Newborn Screening was implemented in Madrid Region.</p><p><strong>Methods: </strong>Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by MS/MS. Newborns with alterations were referred to the clinical centers for follow-up. Biochemical and molecular genetic studies for confirmation of a disease were performed.</p><p><strong>Results: </strong>In the period 2011-2020, 588,793 children were screened, being 953 of them were referred to clinical units for abnormal result (192 for elevated C3 levels). Among them, 88 were false positive cases, 85 maternal vitamin B12 deficiencies and 19 were confirmed to suffer an IEM (8 PA, 4 MMA, 7 MMAHC). Ten out 19 cases displayed symptoms before the NBS results (6 PA, 1 MMA, 3 MMAHC). C3, C16:1OH+C17 levels and C3/C2 and C3/Met ratios were higher in newborns with PA/MMA/MMAHC. Cases diagnosed with B12 deficiency had mean B12 levels of 187.6 ± 76.9 pg/mL and their mothers 213.7 ± 95.0; 5% of the mothers were vegetarian or had poor eating while 15% were diagnosed of pernicious anemia. Newborns and their mothers received treatment with B12 with different posology, normalizing their levels and the secondary alterations disappeared.</p><p><strong>Conclusions: </strong>Elevated C3 are a frequent cause for abnormal result in newborn screening with a high rate of false positive cases. Presymptomatic diagnosis of most of PA and some MMA/MMAHC is difficult. Vitamin B12 deficiency secondary to maternal deprivation is frequent with an heterogenous clinical and biochemical spectrum.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1223-1231"},"PeriodicalIF":1.4,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40363821","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}