Published since January 1, 1985

Journal of Pediatric Endocrinology and Metabolism

ISSN: 2191-0251

Editor-in-chief: Wieland Kiess

Edited by: Abdullah Bereket, Mehul Dattani, Justin Davies, Jan Gustafsson, Fei Hong Luo, Roderick Mitchell, Burcu Öztürk-Hişmi, Raja Padidela, Jorma Toppari, Serap Demircioglu Turan

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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)

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Your Benefits

Up-to-date research on pediatric endocrinology and metabolism
Clinical investigations and basic research from all over the world
Worldwide-known editors and reviewers
Rapid online publication of contributions “ahead-of-print”

History

Published at De Gruyter since 2011

Other publications in the field

Journal of Perinatal Medicine

Case Reports in Perinatal Medicine (Open Access)

Journal of Transition Medicine (Open Access)

International Journal of Adolescent Medicine and Health

Clinical Chemistry and Laboratory Medicine

Diagnosis

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Volume 36 Issue 6

June 2023

Publicly Available June 7, 2023

Frontmatter

Page range: i-iii

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Original Articles

Publicly Available May 1, 2023

Impacts of the COVID-19 pandemic on the diagnosis of idiopathic central precocious puberty in pediatric females in New York City

Merilyn Baby, Jeniece Ilkowitz, Preneet Cheema Brar

Page range: 517-522

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Abstract

Objectives The COVID-19 pandemic had profound effect on physical and mental health. Stress was due physical inactivity, increased screen time, social isolation, fear of illness/death, as well as relative lack of resources including healthy food and finances. These stressors may be associated with an increase in idiopathic central precocious puberty (ICPP). The aim of the study was to assess the incidence of ICPP in females during the COVID-19 pandemic and compare biochemical and radiological parameters of females diagnosed in the previous two years, looking at associations among BMI, screen time, isolation, and stress in relation to the development of early puberty. Methods A retrospective chart review was performed of females diagnosed with ICPP. We divided subjects into a pandemic group and pre-pandemic group based on time of diagnosis. We compared anthropometric, serologic and radiologic data between the two groups. To assess psychosocial stress, we reviewed a COVID-19 impact survey which was administered to families at our endocrine clinic. Results There were a total of 56 subjects in the study; 23 subjects in the pre-pandemic group and 33 in the pandemic group. The pandemic cohort had significantly higher estradiol and LH levels and larger ovarian volumes. Survey results showed parental report of stress was moderate in 38 % of subjects and severe in 25 % of parents. In children, reported stress was moderate in 46 % of subjects. Conclusions As puberty is influenced by exogenous factors including weight gain and psychosocial stress, we suspect that the environmental stress surrounding the pandemic influenced the increase in ICPP.

Open Access May 8, 2023

Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency

Wenjun Sun, Xiaoxi Zhang, Hang Su, Xiaoxia Wang, Fang Qin, Xiangling Gong, Bo Wang, Fei Yu

Page range: 523-529

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Abstract

Objectives Citrin deficiency (CD) is an autosomal recessive disease caused by mutations of the SLC25A13 gene, plasma bile acid profiles detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS) could be an efficient approach for early diagnosis of intrahepatic cholestasis. The aim of this study was to investigate the genetic testing and clinical characteristics of a series of patients with CD, and to analyse plasma bile acid profiles in CD patients. Methods We retrospectively analysed data from 14 patients (12 males and 2 females, age 1–18 months, mean 3.6 months) with CD between 2015 and 2021, including demographics, biochemical parameters, genetic test results, treatment, and clinical outcomes. In addition, 30 cases (15 males and 15 females, age 1–20 months, mean 3.8 months) with idiopathic cholestasis (IC) served as a control group. Plasma 15 bile acid profiles were compared between the CD and IC groups. Results Eight different mutations of the SLC25A13 gene were detected in the 14 patients diagnosed with CD, of which three novel variants of the SLC25A13 gene were investigated, the c.1043C>T (p.P348L) in exon11, the c.1216dupG (p.A406 Gfs*13) in exon12 and the c.135G>C (p.L45F) in exon3. More than half of the patients with CD had prolonged neonatal jaundice, which was associated with significantly higher alpha-fetoprotein (AFP) levels, hyperlactatemia and hypoglycemia. The majority of patients were ultimately self-limited. Only one patient developed liver failure and died at the age of 1 year due to abnormal coagulation function. In addition, the levels of glycochenodeoxycholic acid (GCDCA), taurocholate (TCA), and taurochenodeoxycholic acid (TCDCA) were significantly increased in the CD group compared with those in the IC group. Conclusions Three novel variants of the SLC25A13 gene were identified for the first time, providing a reliable molecular reference and expanding the SLC25A13 gene spectrum in patients with CD. Plasma bile acid profiles could be a potential biomarker for non-invasive early diagnosis of patients with intrahepatic cholestasis caused by CD.

April 13, 2023

Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG

Merve Yoldas Celik, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Ayca Aykut, Asude Durmaz, Selcan Zeybek, Ebru Canda, Sema Kalkan Ucar, Mahmut Coker

Page range: 530-538

Abstract

Objectives Congenital Glycosylation Disorders (CDG) are a large group of inherited metabolic diseases with multi-organ involvement. Herein, we aimed to expand the clinical characteristics of patients with CDG based on our experience with diagnoses and follow-up of CDG patients from different subtypes. Methods The clinical and laboratory findings from the last 15 years were reviewed retrospectively in Ege University Child Metabolism and Nutrition Department. Results There were 8 (57.2 %) females and 6 (42.8 %) males. Diagnoses of the patients were PMM2-CDG (n=4), PGM1-CDG (n=2), DPAGT1-CDG (n=2), SRD5A3-CDG (n=2), MPI-CDG (n=1), POMT2-CDG (n=1), B3GALNT2-CDG (n=1), DPM1-CDG (n=1). The clinical findings of the patients were dysmorphia (85.7 %), developmental delay (85.7 %), intellectual disability (85.7 %), ocular abnormalities (64.2 %), skeletal malformations (64.2 %), failure to thrive (57.1 %), microcephaly (57.1 %), hepatomegaly (35.7 %), hearing loss (35.7 %), seizures (28.5 %), gastrointestinal symptoms (21.4 %), endocrine abnormalities (21.4 %), and cardiac abnormalities (7.1 %). Laboratory findings were abnormal TIEF (92.8 %), abnormal liver enzymes (64.2 %), decreased protein C (64.2 %), decreased antithrombin III (64.2 %), decreased protein S (42.8 %), hypogammaglobulinemia (35.7 %), cerebellar hypoplasia (28.5 %), CK elevation (7.1 %), and hypoglycemia (7.1 %). Conclusions This study contributes to the literature by sharing our ultra-rare DPM1-CDG case with less than 20 cases in the literature and expanding the clinical and molecular characteristics of other CDG patients. Hyperinsulinemic hypoglycemia, short stature, hypothyroidism, growth hormone deficiency, hypogammaglobulinemia, pericardial effusion, elevated CK, congenital myasthenia, and anorectal malformation were unique findings that were observed. Cerebello-ocular findings accompanying multi-organ involvement were an essential clue for a possible CDG.

April 19, 2023

Executive function, behavioral problems, and insulin resistance in adolescents with obesity

Ummugulsum Gundogdu, Guliz Gurer, Mehtap Eroglu

Page range: 539-546

Abstract

Objectives In this study, we examined executive function (EF) abilities, behavioral and emotional (BE) issues, and overall quality of life (QoL) of adolescents with obesity and compared them with a control group and also aimed to investigate whether the presence of insulin resistance (IR) is associated with these problems. Methods This cross-sectional study included a sample of 50 adolescents aged 11–18 years with obesity and age- and gender-matched 50 normal weight adolescents who had attended and were treated at the pediatric outpatient clinic. Sociodemographic data were collected through personal interviews with the adolescents and their parents. Measurements of the height and weight, fasting blood glucose, and insulin levels of all adolescents were assessed. In addition, the participants and their parents completed the Kiddo-KINDL, the Strengths and Difficulties Questionnaire, and the Behavior Rating Inventory Scale from Executive Function. Results Of the 50 adolescents with obesity, 27 (54.0 %) were girls, and 23 (46.0 %) were boys, with a mean age of 14.06 ± 1.83 years. Adolescents with obesity have more EF deficiencies, BE difficulties, more problems in peer relationships and lower QoL scores than those without obesity. The QoL was worse in girls, adolescents with obesity, and those with IR. Adolescents with obesity and those with and without IR did not differ about EF deficiencies and BE problems. Conclusions Addressing these EF deficits and BE problems in interventions for adolescents who have difficulty adapting to lifestyle changes, an essential part of obesity treatment in clinical practice, may contribute to treatment success.

May 5, 2023

Utility of apolipoprotein ratio in predicting metabolic risk and microvascular complications in Indian children and young adults with type 1 diabetes mellitus

Misha Antani, Chirantap Oza, Vaman Khadilkar, Ketan Gondhalekar, Anuradha Khadilkar

Page range: 547-554

Abstract

Objectives To assess the relationship of apolipoproteins with glycemic control and insulin resistance (IR) in Indian children and youth with type-1 diabetes (T1D) and to assess its utility in predicting metabolic risk (MR) and microvascular complications in these subjects. Methods This cross-sectional study included 152 participants aged 6–23 years with T1D. Demographic, anthropometric, clinical, biochemical and body composition data were obtained using standard protocols. IR was calculated using estimated glucose disposal rate (eGDR) and metabolic syndrome (MS) was diagnosed using the international diabetes federation consensus definition 2017. Results Apolipoprotein ratio in subjects with T1D had negative and positive correlation with eGDR and HbA 1c respectively. Positive correlation of Apolipoproten B and apolipoprotein ratio with urinary albumin creatinine ratio is noted. The ratio had area under curve of 0.766 and 0.737 to predict MR and microvascular complications respectively. The ratio cut-off of 0.536 yielded 77.1 % sensitivity and 61 % specificity to predict MR. On adding the apolipoprotein ratio as a predictor to the regression model developed to predict MR, the R 2 and accuracy improved. Conclusions The apolipoprotein ratio had significant correlation with IR, microalbuminuria and glycaemic control. The ratio also predicts risk of development of microvascular complications and maybe used to predict MR in subjects with T1D.

May 1, 2023

Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience

Sahin Erdol, Tugba Akbey Kocak, Huseyin Bilgin

Page range: 555-560

Abstract

Objectives This study aimed to investigate the clinical, demographic and laboratory characteristics of the patients referred with a preliminary diagnosis of biotinidase deficiency through the national newborn metabolic screening program. We also attempted to determine the cut-off level of the fluorometric method used for screening biotinidase deficiency by the Ministry of Health. Methods A total of 700 subjects who were referred to the Pediatric Metabolism Outpatient Clinic with a preliminary diagnosis of biotinidase deficiency through the national newborn metabolic screening program were retrospectively evaluated. Patients detected by family screening were excluded. Biotinidase enzyme activity was assessed and BTD gene analysis was performed in all patients. Results Of 700 subjects who were referred by the screening program, 284 (40.5 %) had biotinidase deficiency (BD). The enzyme activity was 0–10, 10–30 and >30 % in 39 (5.5 %), 245 (35 %) and 416 (59.5 %) patients, respectively. The BD was partial in majority of patients (86.2 %). The cut-off level was 59.5 MRU for partial BD and 50.5 MRU for profound BD. The most common mutation detected was p.Arg157His (c.470G>A) among patients with profound BD, and p.D444H (c.1330G>C) among patients with partial BD. Conclusions Treatment should be initiated promptly in patients who are referred by the newborn screening program. Any mean activity under 59.5 MRU should be considered partial BD, while less than 50.5 MRU should be considered profound BD. It should be kept in mind that clinical manifestations may develop both in profound and partial BD.

May 3, 2023

Adiponectin–leptin ratio as a marker of cardio-metabolic risk in Indian children and youth with type 1 diabetes

Nikhil Shah, Anuradha Khadilkar, Chirantap Oza, Shital Bhor, Dipali Ladkat, Ketan Gondhalekar, Chidvilas More, Vaman Khadilkar

Page range: 561-567

Abstract

Objectives Adiponectin/leptin ratio (ALR) is a promising novel marker of cardio-metabolic risk in patients with metabolic syndrome. Our aim was to study the association of adiponectin-leptin ratio with markers of obesity and adiposity and also to assess its usefulness as a marker of increased cardiometabolic risk (CMR) in Indian children and youth with type 1 diabetes mellitus. Methods This observational study included 79 children and youth with type 1 diabetes (T1DM) (10–21 years) having disease duration>6 months. Demographic data and laboratory findings were obtained from patients’ records. Patients with ALR<1 were categorised as having increased CMR and those with ALR>1 were categorised as having no CMR. Results ALR showed a significant negative correlation with body mass index (BMI), waist and hip circumference and body fat percentage (p<0.05). Body fat percentage was the single most important predictor of ALR. Children and youth with increased CMR had higher weight, BMI, waist and hip circumferences and body fat percentage as compared to those with no CMR (p<0.05). In T1DM children with dyslipidemia, ALR was significantly lower as compared to those without dyslipidemia (p<0.05). Conclusions ALR may be a useful marker for adiposity and increased cardiometabolic risk in Indian children and youth with type 1 diabetes mellitus.

May 5, 2023

Dehydroepiandrosterone sulfate levels at 7 years old and cardio-metabolic factors at 10 and 13 years old – the generation XXI birth cohort

Rita Santos-Silva, Manuel Fontoura, Milton Severo, Ana Cristina Santos

Page range: 568-576

Abstract

Objectives Premature adrenarche is often linked to a cluster of endocrine-metabolic risk factors. Our objective was to explore the association of dehydroepiandrosterone sulfate (DHEAS) levels at age 7 with cardio-metabolic traits at ages 10 and 13, independently of adiposity and pubertal stage. Methods Longitudinal study of 603 individuals (301 girls/302 boys) from the Generation XXI birth cohort. DHEAS at age 7 was measured by immunoassay. Anthropometrics, pubertal staging, blood pressure, and metabolic outcomes were evaluated at ages 7, 10, and 13. Pearson correlations between DHEAS and cardio-metabolic traits (insulin, HOMA-IR, triglycerides, LDL-cholesterol, high-sensitivity C-reactive protein, and systolic and diastolic blood pressure) were computed. Path analysis was used to estimate the effect of DHEAS at age 7 on cardiometabolic traits at ages 10 and 13, adjusted for body mass index (BMI) z-score and Tanner stage. Results DHEAS at age 7 correlated positively with insulin and HOMA-IR at ages 7 and 10 in both sexes, and at age 13 in girls, but not in boys. In girls, DHEAS levels at age 7 directly influenced HOMA-IR at age 13, controlling for BMI and Tanner stage. In boys, DHEAS at age 7 did not influence HOMA-IR at ages 10 and 13. DHEAS at age 7 did not influence the other cardio-metabolic outcomes analyzed. Conclusions DHEAS levels in mid-childhood have a positive longitudinal association with on insulin-resistance that persists, in girls, but not in boys, at least until age 13. No association was found regarding dyslipidemia, hypertension, or low-grade inflammation.

April 21, 2023

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT)

Leila Essaddam, Ons Zitouni, Lilia Kraoua, Madiha Trabelsi, Hella Sassi, Sana Kmiha, Fatma Charfi, Dorra El Guiche, Raoudha Kebaïli, Nesrine Jaballah, Maroua Rjeb, Noura Zouari, Yasmina El Aribi, Syrine Hizem, Salmen Wannes, Ibtihel Fkih Romdhane, Mohamed Tahar Sfar, Hechmi Ben Hamouda, Radhia Hadj Salem, Zied Khlayfia, Tarek Khmiss, Kamel Monastiri, Nadia Siala, Slaheddine Chouchane, Habib Souaa, Inès Khochtali, Bahri Mahjoub, Habib Sfar, Lamia Ben Jemâa, Saoussen Abroug, Lamia Boughamoura, Inès Kamoun, Thouraya Kamoun, Ridha Mrad, Saayda Ben Becher

Page range: 577-583

Abstract

Objectives Early diagnosis in Turner syndrome is desirable to optimize growth and puberty and yet, it is often made late. Here, we aim to identify age at diagnosis, clinical features at presentation and potential strategies to improve the care of TS girls. Methods Retrospective study, including patients from 14 care centers across Tunisia including neonatal and pediatric care units, adult endocrinology and genetics departments. Results We identified 175 patients with TS, karyotype showing 45, xmonosomy in 83(47.4 %) with mosaicism in 37(20 %). Mean ± SD, median (range) age at diagnosis available in 173 patients was 13 ± 9.2,12 (birth-48) years. The diagnosis was antenatal in 4(2.3 %), from birth-2 years in 14 (8 %)with lymphoedema (8)and dysmorphic features (9),2–12 years in 53 (35.5 %) including 35 with short stature, 13–18 years in 43(28.8 %) with short stature(28) and delayed puberty(14) and 35(23.5 %) after 18 years, related to ovarian insufficiency (20) and short stature (11). The associated malformations were cardiac in 14 (12.8 %), renal in 22 (19.6 %). A total of 56 girls (32 %) had proven gonadal dysgenesis and 13 (7 %) had otological problems. Parental height was available in 71 girls (40 %) of whom 59 were below the lower end of parental target range (LTR) (83 %). Conclusions This first Tunisian multicenter study, the first African of its kind, reveals that more than half of Turner syndrome cases are diagnosed after the age of 12 years. Subsequently, national strategies for an earlier TS diagnosis are needed such as measuring and plotting parental heights as well as introducing a systematic height screening at 5 years in Tunisia with a view to carrying out a re-audit in five years’ time.

April 19, 2023

Adolescents who practice physical activity have adequate food choices, regardless of the level of somatic maturation and adiposity

Tatiana Aparecida Affornali Tozo, Beatriz Oliveira Pereira, Caroline Brand, Maiara Cristina Tadiotto, Carla Marisa Maia Moreira, Neiva Leite

Page range: 584-591

Abstract

Objectives Regular physical activity and adequate food are part of a healthy lifestyle for the maintenance of physical and metabolic health. To verify the moderating role of physical activity (PA) in the relationship between dietary patterns and body adiposity in adolescents, according to somatic maturation. Methods Study with cross-sectional design, sample of 336 adolescents of both sexes, aged between 11 and 17 years. Body mass, height, and waist circumference (WC) were evaluated. Body mass index (BMI), BMI z-score (BMI-z), waist-to-height ratio (WHtR), and somatic maturation by peak height velocity (PHV) were calculated. The level of PA was measured by the International Physical Activity Questionnaire and dietary pattern by the Food Frequency Questionnaire ELSA – Brazil (short version). Moderation analyzes were tested using multiple linear regression models, by PROCESS macro for SPSS. Results An inverse interaction of PA was observed in the relationship between food consumption factor 5 (ultra-processed foods category) and WC in boys categorized as pre-pubertal and pubertal PHV (β=−5.344; CI95 % −10.108 −0.580; p=0.028). For girls, no interaction was observed in any of the models analyzed. Conclusions It was observed that the level of PA can influence food choices in prepubertal and pubertal boys, since the active boys showed better dietary pattern and lower central adiposity. Therefore, the findings reinforce the need to encourage the regular practice of physical activities from an early age, mainly aimed at preventing obesity in children and adolescents.

Case Reports

April 17, 2023

ABCC8-related maturity-onset diabetes of the young: switching from insulin to sulphonylurea therapy: how long do we need for a good metabolic control?

Ferda Evin, Esra Işık, Hüseyin Onay, Samim Özen, Şükran Darcan, Damla Gökşen

Page range: 592-597

Abstract

Objectives Activating variants of the ABCC8 gene cause neonatal diabetes or maturity-onset diabetes of the young (MODY). We report three cases of MODY type 12 caused by variants in the ABCC8 encoding sulphonylurea receptor 1, and the experience of switching from insulin therapy to sulphonylurea therapy. Case presentations We describe a 12.5-year-old girl with permanent neonatal diabetes mellitus, and two diabetes mellitus cases with variants in the ABCC8 gene. Two of these cases were successfully switched from subcutaneous insulin to oral glibenclamide, with a marked improvement in glycemic control. In permanent neonatal diabetes case, glibenclamide dose was progressively increased to achieve a full dose (2 mg/kg/day) in 9 days. Nine months after starting oral sulphonylurea therapy, her blood glucose control dramatically improved and insulin therapy was discontinued. Conclusions We conclude that patients with ABCC8 gene variants can successfully switch from insulin to sulphonylureas.

April 17, 2023

Coexistence of Graves’ disease with acute rheumatic fever treated as thyroid storm in young Thai patient

Witchuwan Onsoi, Khomsak Srilanchakon, Suphab Aroonparkmongkol, Vichit Supornsilchai

Page range: 598-601

Abstract

Objectives This report presents a case of acute onset of chorea, concurrent Graves’ disease, and acute rheumatic fever in an 8-year-old female patient. Case presentation The child had intermittent involuntary movement of all extremities and both eyes for 4 days, with a previous history of increased appetite, weight lost, and heat intolerance over a period of two months. Physical examination revealed fever, tachycardia, exophthalmos, eyelid retraction, as well as diffused thyroid enlargement. Initial clinical features and thyroid function testing suggested a thyroid storm due to Graves’ disease. Methimazole, propranolol, potassium iodide (SSKI), and dexamethasone were prescribed. Congestive heart failure developed after propranolol and cardiovascular re-evaluation and Revised Jones criteria suggested acute rheumatic fever. Chorea was successfully treated with pulse methylprednisolone. Conclusions We reported Graves’ disease patients with acute rheumatic fever simulating a thyroid storm. The underlying cardiac disease must be considered, especially where chorea and congestive heart failure are present.

April 13, 2023

GM1 gangliosidosis: patients with different phenotypic features and novel mutations

Merve Emecen Sanli, Mustafa Dogan

Page range: 602-607

Abstract

Objectives GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by beta-galactosidase deficiency encoded by GLB1. It is mainly characterized by progressive neurodegeneration due to accumulation of glycosphingolipids in central nervous system and classified into 3 forms according to the age of onset and severity of symptoms. Case presentation In this study, we described the demographic, clinical, molecular, biochemical characteristics of 4 patients from 3 unrelated families diagnosed with GM1-gangliosidosis. The ages of the patients included in the study were between 5 months and 10 years old and all were male. All families had third degree consanguinity. Two of the patients were diagnosed as infantile type and the other two siblings were diagnosed as juvenile type. Infantile type patients had coarse facial appearance, developmental delay and early neurodegeneration. Juvenile type patients had mild motor and cognitive developmental delays at the beginning, but they did not have coarse facial features. Cherry-red macula and cardiac involvement were detected in only one infantile patient, while hepatomegaly was present in both infantile type patients. Beta galactosidase enzyme levels were extremely low in all patients and two novel variants were identified in GLB1. Conclusions In this study, we identified four patients with different phenotypic features and two new mutations. GM1 gangliosidosis shows clinical heterogeneity according to age of onset. In some patients, developmental delay can be seen before the loss of gained functions. Therefore, this disorder should be kept in mind in patients with developmental delay who have not yet started neurodegeneration. There is no curative treatment for the disease yet, but ongoing gene therapy studies are promising for curing the disease in the future.

April 27, 2023

Novel sonic hedgehog gene variant in a patient with hyponatremia, microsomia, and midline defects; phenotype description in association with a variant of unknown significance [c.755_757del p.(Phe252del)] and an approach to salt-wasting in SHH-related adrenal disorders

Marita Antoniadi, Dimitra Irinna Vitoratou, Maria Marinou, Olga Fafoula, Fani Mylona, Danai Palaiologou, Lazaros Leandros, Stavroula Kostaridou

Page range: 608-613

Abstract

Objectives To contribute a novel sonic hedgehog (SHH) gene variant in association with a novel-meagerly described phenotype and discuss SHH signaling pathway pathology. Case presentation We present a 5-year-old boy with excessive hyponatremia and natriuresis, microform holoprosencephaly and microsomia, with morphologically intact hypothalamic–pituitary–adrenal (HPA) axis, and hypoaldosteronism, yet without hyperreninemia, hyperkalemia, dehydration episodes, or glucocorticoid insufficiency. Extensive workup excluded common causes of salt-wasting and revealed a novel variant of unknown significance on the sonic hedgehog (SHH) gene; NM_000193.4:c.755_757del (p.Phe252del), in heterozygosity. Conclusions Salt-wasting in children is predominantly caused by central nervous system lesions, renal tubular dysfunction, or adrenal insufficiency. The SHH protein is a signaling molecule, essential in embryogenesis-including HPA axis differentiation. Inactivating SHH variants disrupt the signaling pathway, leading to dysplasia or dysfunction of target organs. What’s new: • We analyze the patient's phenotype in the light of this novel variant • Patient’s isolated aldosterone deficiency possibly implies a selective signaling defect affecting the development of adrenal zona glomerulosa • Unexplained hyporeninemia and hypokalemia in the context of hypoaldosteronism raise questions on SHH signaling pathophysiology.

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Ahead of Print / Just Accepted

Volume 36 (2023)

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5-year Journal Impact Factor	1.587
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Editorial

Editor-in-Chief
Wieland Kiess, Leipzig, Germany

Founding Editor
Harry J. Hirsch, Jerusalem, Israel

Honorary Editors
Zvi Laron, Petah Tikva, Israel
Zvi Zadik, Rehovot, Israel

Managing Editor
Anna Kirstein, Leipzig, Germany

Associate Editors
Abdullah Bereket, Istanbul, Turkey
Mehul Dattani, London, United Kingdom
Justin Davies, Southampton, United Kingdom
Jan Gustafsson, Uppsala, Sweden
Sasha Howard, London, United Kingdom
Feihong Luo, Shanghai, China
Raja Padidela, Manchester, United Kingdom
Burcu Öztürk-Hişmi, Istanbul, Turkey
Jorma Toppari, Turku, Finland
Serap Turan, Istanbul, Turkey

Editorial Board
Tadej Battelino, Ljubljana, Slovenia
Fernando Cassorla, Santiago de Chile, Chile
George Chrousos, Athens, Greece
Wayne Cutfield, Auckland, New Zealand
Johnny Deladoey, Montreal, QC, Canada
Rasha Tarif Hamza, Cairo, Egypt
Eli Hershkovitz, Beersheba, Israel
Stephen LaFranchi, Portland, OR, USA
Roberto Lanes, Caracas, Venezuela
Warren Lee, Singapore
Angelika Mohn, Chieti, Italy
Margaret Zacharin, Parkville, Australia

Editorial Office
Heike Jahnke
Walter de Gruyter GmbH
Genthiner Str. 13
10785 Berlin, Germany
E-mail: Heike.Jahnke@degruyter.com

(Deutsch)

Online ISSN: 2191-0251
Print ISSN: 0334-018X
Type: Journal
Language: English
Publisher: De Gruyter
First published: January 1, 1985
Publication Frequency: 12 Issues per Year
Audience: researchers and practitioners interested in pediatric endocrinology and metabolism