Journal of Pediatric Endocrinology and Metabolism

Published by De Gruyter

Volume 35 Issue 1

Issue of Journal of Pediatric Endocrinology and Metabolism

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Contents
Journal Overview

Publicly Available January 17, 2022

Frontmatter

Page range: i-iv

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Review Article

October 1, 2021

Medullary thyroid carcinoma in children: current state of the art and future perspectives

Andreas Kiriakopoulos, Anastasia Dimopoulou, Constantinos Nastos, Dimitra Dimopoulou, Konstantina Dimopoulou, Evangelos Menenakos, Nikolaos Zavras

Page range: 1-10

Abstract

Medullary thyroid carcinoma (MTC) is a distinct type of malignant thyroid tumor in cell origin, biological behavior, and natural history. It accounts for 1.6% of all thyroid cancers and presents either sporadically or as a hereditary disease, the latter occurring as a part of multiple endocrine neoplasia (MEN) 2A and MEN2B syndromes or as a familial MTC disease with no other manifestations. The gene responsible for the hereditary form is the rearranged during transfection (RET) gene, a proto-oncogene located to human chromosome 10. Most pediatric MTC cases have been discovered after genetic testing investigations, leading to the concept of prophylactic surgery in presymptomatic patients. Therefore, the genetic status of the child, along with serum calcitonin levels and ultrasonographic findings, determine the appropriate age for prophylactic surgical intervention. Nevertheless, a diagnosis at an early stage of MTC warrants total thyroidectomy and central lymph node dissection with the addition of lateral/contralateral lymph node dissection depending on the tumor size, ultrasonographic evidence of neck disease, or calcitonin levels. Conversely, locally advanced/unresectable or metastatic MTC is primarily treated with multikinase inhibitors, while more specific RET inhibitors are being tested in clinical trials with promising results.

Original Articles

October 20, 2021

Newly defined peroxisomal disease with novel ACBD5 mutation

Ozlem Gorukmez, Cengiz Havalı, Orhan Gorukmez, Sevil Dorum

Page range: 11-18

Abstract

Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been described in recent years. Here, we report two siblings with a novel homozygous nonsense variation (c.1297C>T, p.Arg433*) in ACBD5 (NM_145698.4) gene using Clinical Exome Sequencing (Sophia Genetics).

October 22, 2021

Pediatric adrenocortical tumors cohort characteristics and long-term follow-up at a single Argentinian tertiary center

María Celeste Mattone, Silvia Gil, Mariana Costanzo, María Laura Galluzzo Mutti, Alejandra Casanovas, Verónica Zaidman, Juan Manuel Lazzati, Marta Ciaccio, Alicia Belgorosky, Gabriela Guercio

Page range: 19-27

Abstract

Pediatric adrenocortical tumors are rare and heterogeneous endocrine malignancies. Objectives To report clinical, biochemical, and histological features, staging, and therapeutic interventions in a cohort of 28 patients treated at a single tertiary center. Methods A retrospective review of medical records of children with PACT (diagnosed before <18 years of age) followed between 1987–2018 at Hospital de Pediatría Garrahan, Buenos Aires, Argentina. Results Mean age at diagnosis was 4.6 years (range, 0.3–17.3 years) and median follow-up was 4.17 years (range, 0–12 years). Female to male ratio was 2.5:1. Signs and symptoms that prompted medical intervention were hormonal overproduction (57%), abdominal complaints (36%), and hypertensive encephalopathy (7%). In patients with clinically virilizing tumors (n=16) mean height standard deviation score (SDS) and bone age advance were significantly higher while body mass index (BMI) SDS was significantly lower than in those with clinical Cushing’s (n=10) (p<0.05). Serum dehydroepiandrosterone sulfate (DHEAS) levels were significantly higher in stage IV than in stage I (p=0.03). Total adrenalectomy was performed in 26 patients. Eight patients (stage III-IV) received adjuvant chemotherapy. Five-year overall and disease-free survival were 100% for ST I-II, and 51% (95% CI 21–82) and 33% (95% CI 1.2–65) for ST III-IV, respectively (p=0.002). No statistical difference was found when comparing 2-year parameters with and without adjuvant chemotherapy. Conclusions Height SDS and BMI SDS seem to mirror hormonal secretion in pediatric adrenocortical tumors. Higher DHEAS levels were found in patients with more advanced disease. Further large-scale studies are needed to validate a possible role for DHEAS as a biochemical marker of tumor stage and to draw robust conclusions on the use of adjuvant chemotherapy.

October 28, 2021

Sleep disorder and behavior problems in children with type 1 diabetes mellitus

Evin Ilter Bahadur, Şervan Özalkak, Asena Ayça Özdemir, Semra Çetinkaya, Elif Nursel Özmert

Page range: 29-38

Abstract

Objectives To examine sleep and behavior problems in children with type 1 Diabetes Mellitus (T1DM) compared to nondiabetic controls in a bridging country between east and west and to evaluate the interaction of sleep on behavior problems, maternal sleep, and maternal depressive symptoms. Methods The study included children with T1DM (4–12 years old) and age/sex-matched healthy controls. Parents completed the Children Sleep Habits Questionnaire (CSHQ), Children Behavior Checklist/4–18 (CBCL/4–18), Pittsburgh Sleep Quality Index (PSQI), Beck Depression Inventory (BDI), and a study-specific sociodemographic questionnaire. Clinical parameters regarding T1DM were collated from medical records. Results Participants included 75 children with T1DM and 49 controls. Based on CSHQ results 65.3% of all participants in both groups had sleep problems. Children with T1DM slept less and had higher daytime sleepiness problems than controls (p=0.024, p=0.008, respectively). No association was found between CSHQ or sleep duration and mode of diabetes treatment (pump, multiple daily injections) or glycemic control. CSHQ correlated with maternal PSQI (r=0.336 p=0.004) and BDI (r=0.341 p=0.004) in children with T1DM, but there was no association amongst controls. Children with T1DM had higher internalizing problems compared to controls. CSHQ and BDI correlated with internalizing, externalizing, and the total scores of the CBCL/4–18 in children with T1DM (R 2 =0.260 p<0.001; R 2 =0.207 p<0.001, R 2 =0.381 p<0.001 respectively). In controls, only BDI was associated with internalizing, externalizing, and the total scores of the CBCL/4–18. Conclusions Children with T1DM should be evaluated for sleep pattern and quality at follow-up, to identify those at risk for behavior problems and improve maternal life quality. Large longitudinal studies are necessary to assess the effect of new diabetes treatment modalities on sleep.

November 2, 2021

Increased hepcidin levels and non-alcoholic fatty liver disease in obese prepubertal children: a further piece to the complex puzzle of metabolic derangements

Cosimo Giannini, Nella Polidori, Maria Alessandra Saltarelli, Francesco Chiarelli, Raffaella Basilico, Angelika Mohn

Page range: 39-47

Abstract

Introduction Several studies on obese youths and adults have reported increased hepcidin levels, which seems to be related to metabolic and iron metabolism alterations. The complete mechanisms involved in hepcidin increase remain to be elucidated, and particularly its role in the development of other known complications such as Nonalcoholic Fatty Liver Disease (NAFLD). NAFLD in prepubertal children might be of special interest in understanding the underlying mechanisms. Methods Anthropometric measurements, liver ultrasonography, lipid profile, liver function, oxidative stress, inflammatory state, and iron metabolism were studied in 42 obese prepubertal children and 33 healthy controls. We, therefore, evaluated the presence of possible correlations between Hepcidin and the other metabolic variables, and the possible association between NAFLD and iron metabolism. Results Hepcidin levels were significantly increased in the obese prepubertal children (p=0.001) with significant differences between obese children with and without NAFLD (p=0.01). Blood iron was lower in obese children (p=0.009). In the obese group, a negative correlation between hepcidin and both blood iron levels (p=0.01) and LagPHASE (p=0.02) was found. In addition, a positive association between hepcidin and NAFLD (p=0.03) was detected. Conclusions We suggest that an increase in hepcidin levels may represent an early step in iron metabolism derangements and metabolic alterations, including NAFLD, in prepubertal obese children.

November 9, 2021

Screening for testicular adrenal rest tumors among children with congenital adrenal hyperplasia at King Fahad Medical City, Saudi Arabia

Mohammed Ayed Huneif, Majed Al Mutairi, Ziyad Hamad AlHazmy, Fatima Khalid AlOsaimi, Anas M. AlShoomi, Mohammed A. AlGhofely, Abdulhameed AlSaheel

Page range: 49-54

Abstract

Objectives To assess the incidence of testicular adrenal rest tumors (TARTs) among male children with congenital adrenal hyperplasia (CAH) in tertiary care centers. Methods All male children aged 1–14 years diagnosed with CAH due to 21-hydroxylase deficiency (21 HOD), 11β-hydroxylase deficiency, and 3β-hydroxysteroid dehydrogenase deficiency, confirmed by biochemical and/or genetic testing, underwent scrotal ultrasound examination to identify TARTs. After receiving the diagnosed patients’ data, patients’ electronic medical records were accessed to collect demographic data and scrotal ultrasound results, along with growth parameters and specific biochemical test results within 2 months of the ultrasound. Results TARTs were observed in 5 (10.9%) of 46 male children with CAH. Four patients with positive findings had 21 HOD classical CAH with salt loss and one had 21 HOD simple virilizing classical CAH. All patients had poor compliance and stage 2 bilateral TARTs. Three TART-positive patients (60.0%) had high ACTH levels, 5 patients (100%) had elevated 17-OHP levels, and 5 patients (100%) had advanced bone age. The youngest patient with positive findings was 4 years old. Conclusions The prevalence of TARTs increases with age and can be present in young males with classical CAH with 21 HOD. It is associated with elevated 17-hydroxyprogesterone (17-OHP) and advanced bone age SDS. TARTs are less likely to be associated with nonclassical CAH with 21 HOD or other less common CAHs due to 11β-hydroxylase deficiencies and 3β-hydroxysteroid dehydrogenase deficiencies in children. Our study recommends early and routine screening of TARTs in children with CAH.

November 9, 2021

The association between vitamin D levels and metabolic syndrome components among metropolitan adolescent population

Yi-Xiong Gao, Jian Zhang, Qingqing Man, Yuqian Li, Shanshan Jia

Page range: 55-63

Abstract

Objectives Vitamin D promotes both lipolysis and lipogenesis, and some pediatric studies showed inconsistent associations between vitamin D and metabolic syndrome (MetS). This cross-sectional study aimed to examine the association between vitamin D levels and MetS components among metropolitan adolescents. Methods A total of 4,149 adolescents aged 10–18 years were recruited from 23 metropolises in China. The MetS conditions were assessed according to the International Diabetes Federation consensus definition, and the serum 25-hydroxy vitamin D (25(OH)D) concentrations were analyzed. The association between MetS components and serum 25(OH)D levels was analyzed by the logistic regression model. Restricted cubic spline was applied to the model nonlinear association. Results Prevalence of vitamin D deficiency was 74.9%, and 41.2% of study participants had at least one MetS component. After adjustment, the significant trend for a lower waist-to-height ratio was not observed in study participants with higher serum 25(OH)D quartile (p=0.57), but a significant nonlinear association between abdominal obesity and serum 25(OH)D levels was found (p=0.04): the highest risk of abdominal obesity occurred at 14.1 ng/mL of serum 25(OH)D. The association of serum 25(OH)D was significantly inverse with MetS (OR: 0.95; 95% CI: 0.92–0.98), but not with raised triglycerides (OR: 0.99; 95% CI: 0.96–1.01), raised blood pressure (OR: 0.99; 95% CI: 0.97–1.01) and impaired fasting glycemia (OR: 1.03; 95% CI: 1.01–1.04). Conclusions The net effect of vitamin D on lipid metabolism may be concentration-dependent, and the actual effect of vitamin D on MetS process may be complex among metropolitan adolescents, though serum 25(OH)D is inversely associated with MetS.

November 10, 2021

Utility of wrist circumference in recognition of metabolic syndrome in overweight and obese South Indian children and adolescents

Vidhya Ahilan, Varun Govind Krishna, Hemchand Krishna Prasad, Kannan Narayanasamy, Nedunchelian Krishnamoorthy

Page range: 65-71

Abstract

Objective To describe the utility of wrist circumference in the identification of cardiometabolic risk in overweight and obese children. Methods A cross-sectional study was conducted in the obesity clinic of a tertiary care referral hospital over a two year period. All children and adolescents aged 5–17 years with nutritional overweight and obesity were recruited. Data pertaining to chronological age, sex, risk factors and family history were collected. Clinical assessment of anthropometry: Weight, height, body mass index (BMI), Tanner’s stage, wrist circumference, blood pressure, waist circumference and triceps skinfold thickness done as per standard criteria. Biochemical assessment of blood glucose, serum insulin, lipid profile, and Homeostatic Model for Insulin Resistance performed after 12 h of fasting. Results We recruited 118 subjects (mean age 10.9 years, 71.1% males, 87.3% obese and 12.7% overweight); 30 (25.4%) had metabolic syndrome. The mean z scores of wrist circumference of children who presented with and without metabolic syndrome was 2.7 ± 0.8 and 2.1 ± 0.7, respectively (p<0.05). We observed a fair positive correlation between wrist circumference z score and BMI z score, (r=0.5; p<0.05). On receiver operating characteristic curve analysis, 97th percentile of wrist circumference predicted metabolic syndrome among overweight and obese children with a sensitivity of 86.7% and specificity of 37.5% (AUC=0.675). Conclusions Wrist circumference with 97th percentile as a cut-off is a useful tool to identify metabolic syndrome amongst overweight and obese children and adolescents.

November 12, 2021

Ketoacidosis in new-onset type 1 diabetes: did the severity increase during the COVID-19 pandemic?

Teresa A. Botelho, Joana M. N. Santos, Crisbety M. S. Pinho, Ana Isabel B. R. Martins, Adriana I. S. Formiga, Joana Serra-Caetano, Rita C. F. Cardoso, Isabel C. A. D. Dinis, Alice S. R. Mirante

Page range: 73-77

Abstract

Objectives Since the beginning of the COVID-19 pandemic, there has been a consistent decrease in the number of admissions to the emergency department, leading to a delay in the diagnosis of several pathologies. The time from onset of symptoms to the diagnosis of Type 1 diabetes is highly variable. This treatment delay can lead to the appearance of ketoacidosis. Methods Retrospective study of inaugural Type 1 diabetes cases, from March 2016 to March 2021. The pandemic group was considered between March 2020 to March 2021, and the remaining period was considered as pre-pandemic. Clinical variables were analysed: duration of symptoms, weight loss and value of ketonemia and glycated haemoglobin on admission. The mean differences were considered statistically significant at p<0.05. Results 103 inaugural episodes of Type 1 diabetes were registered. The pandemic group had a lower mean age when compared to pre-pandemic group, and 51.7% of the episodes had ketoacidosis with a higher relative risk of ketoacidosis and severe ketoacidosis, when compared the pandemic with pre-pandemic group, there was a longer symptom evolution time (34 vs. 20 days), greater weight loss occurred (9.5% vs. 6.3%), the pH and HCO 3 − values were lower (7.30 vs. 7.36 and 16.43 vs. 20.71 mmol/L respectively) and ketonemia was higher (5.9 vs. 2.3 mmol/L). Conclusions The COVID-19 pandemic caused a delay in the diagnosis of Type 1 diabetes, greater length of disease, greater weight loss, higher ketonemia and lower pH and HCO 3 − . There was greater ketoacidosis relative risk in pandemic group when compared to pre-pandemic group.

November 18, 2021

Predictors of decreased bone mineral density in childhood systemic lupus erythematosus: possible role of osteoprotegerin gene polymorphisms

Riham Eid, Maha Abdelsalam, Aya A Fathy, Dena M Abd-El Ghaffar, Eman B Elmarghany, Aya A El-Hanafy, Nora Mostafa, Nashwa Hamdy, Nermeen A Niazy, Ayman Hammad, Hadil M Abolenein

Page range: 79-87

Abstract

Objectives This study aims to explore effects of osteoprotegerin (OPG) gene polymorphisms and other possible factors on bone mineral density (BMD) in children with systemic lupus erythematosus (SLE). Methods Osteoprotegerin gene rs2073617 and rs3134069 were evaluated in 74 SLE patients and 100 controls then genotypes, alleles and haplotypes’ frequencies were compared between cases and controls and between patients with BMD z-scores above and below −2 evaluated by dual energy X-ray absorptiometry (DEXA). Disease activity was evaluated by SLE disease activity index (SLEDAI). Results The patients aged 14.01 ± 2.6 years and included 57 (77%) females and 27 (36%) patients with BMD z-score below −2. Genotypes, alleles, and haplotypes frequencies did not differ between patients and controls ( p >0.05 for all). Rs3134069 GG genotype and G allele ( p =0.001, 0.002) and rs2073617 TT genotype and T allele ( p =0.01, 0.006) were significantly higher in patients with BMD below −2. Cumulative glucocorticoids dose, disease duration, and SLEDAI scores were higher in patients with BMD below −2 ( p =0.01, 0.01, <0.001, respectively). Regression analysis showed T allele of rs2073617, duration of illness (above 36 months), and cumulative SLEDAI (above 10) as independent predictors of decreased BMD ( p 0.02, 0.003, and 0.002, respectively). Conclusions This is the first study to demonstrate OPG gene influence on BMD in children with SLE. The studied SNPs are not risk for developing SLE but, rs2073617 T allele is a possible predictor for reduced BMD in SLE. Other predictors include long disease duration and high activity supporting that osteoporosis in SLE is multifactorial.

November 19, 2021

Psychiatric behavioral effect and characteristics of type 2 diabetes mellitus on Japanese patients with Prader-Willi syndrome: a preliminary retrospective study

Yuji Oto, Nobuyuki Murakami, Takeshi Inoue, Keiko Matsubara, Sohei Saima, Hiroyuki Ogata, Hiroshi Ihara, Toshiro Nagai, Tomoyo Matsubara

Page range: 89-96

Abstract

Objectives In recent years, research on behavioral and psychiatric problems of adults with Prader-Willi syndrome (PWS) has gained attention. However, no report is available regarding the relationship between psychiatric illness and type 2 diabetes mellitus (T2DM) in patients with PWS. Therefore, we evaluated a behavioral assessment to address the lack of data on the association between psychiatric behavior and T2DM. Methods This was a retrospective single-center study of patients with PWS. Patients with PWS whose blood tests were performed in our hospital between January 2018 and December 2019 and aged >10 years were included. We evaluated the data, including the behavioral patterns of Japanese PWS patients with T2DM. Results Overall, 114 patients were evaluated; 33 patients (28.9%) developed T2DM. The age of T2DM onset was 18.0 years (interquartile range [IQR], 14.6–21.4 years). The median body mass index at T2DM onset was 33.7 kg/m 2 (IQR, 30.0–37.4 kg/m 2 ). Between-group comparisons of the intelligence quotient, Food-Related Problem Questionnaire (FRPQ), and Japanese versions of the Short Sensory Profile and Aberrant Behavior Checklist showed a significant difference only in FRPQ scores (p=0.003). Conclusions The occurrence of T2DM among Japanese patients with PWS remains high. Only the FRPQ was significantly different between the T2DM and the non-T2DM group.

November 22, 2021

Biochemical predictors of metabolically unhealthy obesity in children and adolescents

Ah Young Cho, Jung Gi Roh, Young Suk Shim, Hae Sang Lee, Jin Soon Hwang

Page range: 97-103

Abstract

Background Children and adolescents with obesity can now be classified according to metabolic profile, as those with metabolically healthy obesity (MHO) and those with metabolically unhealthy obesity (MUO). We aimed to determine the prevalence of MUO and identify its biochemical predictors in pediatric patients with obesity. Methods We evaluated the medical records of 187 boys and girls with obesity. The children were divided into MHO and MUO groups, and anthropometric and biochemical parameters were assessed. Oral glucose tolerance test (OGTT) was used to identify impaired glucose regulation and hyperinsulinism, and binary logistic regression analysis was used to determine predictors of MUO in children with obesity. Results Of the 187 children, MUO was found in 71.7% (n=134) and MHO in 28.3% (n=53); those in the MHO group were younger than those in the MUO group. Blood pressure, triglyceride, total cholesterol, and uric acid levels were significantly higher in the MUO group than in the MHO group. Further, the MUO group exhibited a significantly higher level of insulin resistance (p<0.05) than the MHO group. Serum levels of uric acid and homeostasis model assessment of insulin resistance index (HOMA-IR) were confirmed as biochemical predictors of the MUO phenotype in children with obesity. Conclusions The ratio of MUO in children with obesity was relatively high; further, serum levels of uric acid and HOMA-IR can be used as biochemical predictors of MUO.

Open Access November 30, 2021

Adiposity rebound in very-low-birth-weight infants

Koryo Nakayama, Go Ichikawa, Junko Naganuma, Satomi Koyama, Osamu Arisaka, Toshimi Sairenchi, Gen Kobashi, Shigemi Yoshihara

Page range: 105-108

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Abstract

Objectives Adiposity rebound (AR) refers to an increase in body mass index (BMI) after a nadir. Early AR, in which AR occurs earlier than five years old, is a risk factor for future obesity and metabolic syndrome, but has not been widely studied in very-low-birth-weight infants (VLBWIs). Methods The subjects were VLBWIs born in Dokkyo Medical University NICU from January 2008 to December 2010. Height and weight measured at birth and at intervals until seven years old were obtained from medical records. The lowest BMI after one year of age was used for the age of AR. The subjects were divided into those with early and normal AR (<5 and ≥5 years old). BMI percentile at age seven years was compared using the interquartile range (IQR). Changes in BMI were evaluated by repeated measures analysis of variance (ANOVA). Results There were 38 early AR cases and 62 normal AR cases, giving a prevalence of early AR similar to that in infants with normal birth weight. BMI percentile at age seven years was significantly higher in early AR cases than in normal AR cases (44.6 [IQR: 21.0–79.2] vs. 14.4 [IQR: 3.8–40.8] kg/m 2 ). Changes in BMI were also significantly higher in early AR cases (p=0.024 by ANOVA). Conclusions Early AR in VLBWIs is a predictor of future obesity.

December 2, 2021

The association between a metabolically healthy overweight/obesity phenotype and markers of inflammation among Chinese children and adolescents aged 10–18 years

Jinyu Zhou, Ling Bai, Yangyang Dong, Rongrong Cai, Wenqing Ding

Page range: 109-114

Abstract

Objectives The association between metabolically healthy overweight/obesity (MHO) and inflammatory markers remains controversial. The aim of the present study was to describe the prevalence of different metabolic phenotypes and to examine the relationship of different metabolic phenotypes with inflammatory markers among Chinese children and adolescents. Methods The study included 1,125 children and adolescents aged 10–18 years using a cross-sectional survey, and all subjects were classified into four groups based on a combination of BMI and metabolic status. In addition, the inflammatory markers we measured were high-sensitivity C-reactive protein (hs-CRP), tumor necrosis factor-α (TNF-α), and interleukin-6 (IL-6). Results The prevalence of metabolically healthy with normal-weight (MHNW), MHO, metabolically unhealthy with normal-weight (MUNW), and metabolically unhealthy overweight/obesity (MUO) phenotypes was 38.76, 7.11, 38.67 and 15.47%, respectively. The results of logistic regression analysis showed that the MHO was associated with the z scores of hs-CRP in Chinese children and adolescents (OR=0.57, 95% CI: 0.39–0.83). Meanwhile, multivariate adjusted regression analysis showed that the relationship between hs-CRP and MHO among the overweight/obese was consistent with the results above, but among the normal-weight, only the highest quartile of TNF-α could increase the risk of MUNW (OR=1.65, 95% CI: 1.09–2.52). Conclusions MHO phenotypes were not common in Chinese children and adolescents. Individuals with MHO had a more beneficial hs-CRP profile than those with MUO.

Case Reports

September 28, 2021

Management of perinatal HPP during critical illness/ECMO

Neetu Krishnan, Nancy Dunbar

Page range: 115-119

Abstract

Objectives With the advent of asfotase alfa, the enzyme replacement therapy (ERT) approved for hypophosphatasia (HPP), health care providers need to navigate management of ERT during critical illness. Case presentation We present the case of a young girl, treated with ERT for severe perinatal HPP, who had cardiorespiratory arrest in the setting of influenza A. Her life-saving treatment involving extra corporeal membrane oxygenation (ECMO) required a two-week interruption of ERT leading to persistent hypercalcemia and hyperphosphatemia. A three year old female presented with respiratory distress and blood tinged secretions. She was influenza A positive with bilateral opacities on chest X-ray (CXR). Worsening respiratory distress and bradycardic arrest required intubation, CPR and venoarterial ECMO cannulation. She remained on ECMO for 10 days with anticoagulation restrictions requiring her thrice-weekly subcutaneous ERT to be held. Hypercalcemia (12.3 mg/dL) and hyperphosphatemia (7.6 mg/dL) developed two weeks after restarting ERT and resolved six weeks later. Conclusions We highlight that the obligatory cessation of ERT while on ECMO led to the loss of functional TNSALP with a profound decrease in bone mineralization leading to excess circulating calcium and phosphorus. In cases where it is necessary to interrupt ERT, we advise close monitoring of calcium and phosphorous levels.

October 13, 2021

Wolfram-like syndrome – another face of a rare disease in children

Mariusz Smetek, Karolina Gadzalska, Paulina Jakiel, Julia Grzybowska, Malgorzata Mysliwiec, Maciej Borowiec, Agnieszka Zmysłowska

Page range: 121-124

Abstract

Objectives The presence of two pathogenic variants in the WFS1 gene leads to the occurrence of a rare genetic disease in children – Wolfram syndrome (WFS), which includes insulin-dependent diabetes mellitus (DM), optic atrophy (OA), diabetes insipidus (DI), and deafness (D). However, the presence of a single mutation in the WFS1 gene results in a number of other autosomal dominant inherited diseases, including Wolfram-like syndrome (WFS-like). Case presentation A 10-year-old boy was referred to the Genetic Outpatient Clinic with suspected WFS based on the coexistence of D, type 1 DM, short stature, and abnormalities in ophthalmologic examination (astigmatism and OA due to the optical coherence tomography result). The genetic analysis did not confirm WFS syndrome in the boy but identified a single likely pathogenic de novo variant in the WFS1 gene, which confirmed WFS-like syndrome. Conclusions Currently, the patient is under the care of an endocrinologist, diabetologist, ophthalmologist, audiologist, and also psychologist because of mood disorders.

October 18, 2021

Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1 (p.Lys41Thrfs^∗2)

Hisakazu Nakajima, Shota Fukuhara

Page range: 125-129

Abstract

We described two Japanese siblings with arginase-1 (ARG1) deficiency. A 10-year-old girl (the proband and elder sister) was referred to our hospital complaining about her short stature. We diagnosed her with ARG1 deficiency, possibly with elevated levels of blood ammonia and plasma arginine. Her younger sister was found to have spastic paraparesis in her lower extremities and short stature at the age of 4 years. The younger sister also had high levels of plasma arginine, instead of normal levels of blood ammonia. Interestingly, they also prefer to avoid protein-rich foods such as meat, soybeans, cow milk, and dairy products. Genetic testing identified compound heterozygous mutations (c.121_122insCTT [p.Lys41Thrfs ∗ 2] and c.298G>A [p.Asp100Asn]) in the ARG1 gene. The ARG1 mutation of p.Lys41Thrfs ∗ 2 is a novel pathogenic mutation according to open databases and literature.

October 22, 2021

An atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome

Meera Shaunak, Lucy Side, Nadeem Afzal, Justin Huw Davies

Page range: 131-134

Abstract

Objectives To report an atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome (PJS) . Case presentation Two siblings presented with prepubertal gynaecomastia and bilateral macro-orchidism, without mucocutaneous pigmentation or gastrointestinal symptoms. There was no family history of PJS. Sibling 1 had unilateral gynaecomastia. Sibling 2 had bilateral gynaecomastia, advanced bone age and bilateral testicular microlithiasis, not indicative of a large-cell calcifying Sertoli cell tumour. Genetics revealed a paternally inherited heterozygous pathogenic STK11 variant (910C>T) in both siblings. The diagnosis was confirmed following the identification of multiple intestinal polyps in their father. Conclusions Prepubertal gynaecomastia and prepubertal macro-orchidism (testicular enlargement without virilisation), always warrant endocrinological investigation, with PJS being an important differential diagnosis. Children may not fulfil the clinical criteria for a diagnosis of PJS at presentation. Genetic testing and gastroenterological investigation of parents may aid diagnosis.

About this journal

Objective
The aim of the Journal of Pediatric Endocrinology and Metabolism (JPEM) is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology. JPEM publishes Reviews, Original Research, Case Reports, Short Communications and Letters to the Editor (including comments on published papers). JPEM publishes supplements of proceedings and abstracts of pediatric endocrinology and diabetes society meetings.

Topics

Pediatric endocrinology
Pediatric diabetes
Inherited metabolic diseases

Article formats

Original Research, Reviews, Mini Reviews, Opinion Papers, Case Report, Short Communications, Letters to the Editor (including comments on published papers)

Volume 35 Issue 1

Issue of Journal of Pediatric Endocrinology and Metabolism

Frontmatter

Medullary thyroid carcinoma in children: current state of the art and future perspectives

Abstract

Newly defined peroxisomal disease with novel ACBD5 mutation

Abstract

Pediatric adrenocortical tumors cohort characteristics and long-term follow-up at a single Argentinian tertiary center

Abstract

Sleep disorder and behavior problems in children with type 1 diabetes mellitus

Abstract

Increased hepcidin levels and non-alcoholic fatty liver disease in obese prepubertal children: a further piece to the complex puzzle of metabolic derangements

Abstract

Screening for testicular adrenal rest tumors among children with congenital adrenal hyperplasia at King Fahad Medical City, Saudi Arabia

Abstract

The association between vitamin D levels and metabolic syndrome components among metropolitan adolescent population

Abstract

Utility of wrist circumference in recognition of metabolic syndrome in overweight and obese South Indian children and adolescents

Abstract

Ketoacidosis in new-onset type 1 diabetes: did the severity increase during the COVID-19 pandemic?

Abstract

Predictors of decreased bone mineral density in childhood systemic lupus erythematosus: possible role of osteoprotegerin gene polymorphisms

Abstract

Psychiatric behavioral effect and characteristics of type 2 diabetes mellitus on Japanese patients with Prader-Willi syndrome: a preliminary retrospective study

Abstract

Biochemical predictors of metabolically unhealthy obesity in children and adolescents

Abstract

Adiposity rebound in very-low-birth-weight infants

Abstract

The association between a metabolically healthy overweight/obesity phenotype and markers of inflammation among Chinese children and adolescents aged 10–18 years

Abstract

Management of perinatal HPP during critical illness/ECMO

Abstract

Wolfram-like syndrome – another face of a rare disease in children

Abstract

Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1 (p.Lys41Thrfs∗2)

Abstract

An atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome

Abstract

Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1 (p.Lys41Thrfs^∗2)