journal: Journal of Pediatric Endocrinology and Metabolism

Impact Factor: 1.520

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 3

March 2023

Publicly Available March 7, 2023

Frontmatter

Page range: i-iv

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Editorial

Publicly Available February 14, 2023

Thyroid – what is a healthy thyroid function test?

Wieland Kiess, Anna S. Kirstein, Jürgen Kratzsch, Julia Gesing, Roland Pfäffle

Page range: 223-224

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Review

November 2, 2022

Thyroid storm in pediatrics: a systematic review

Daniela Aguilar Abisad, Eva Maria Glenn Lecea, Andrea Montano Ballesteros, Guido Alarcon, Alejandro Diaz, Pedro Pagan-Banchs

Page range: 225-233

Abstract

Objectives Thyroid storm (TS) is an uncommon but severe manifestation of hyperthyroidism and an endocrine emergency, as it is fatal if it goes unrecognized. In pediatrics, the current literature is limited to case reports and case series. Current knowledge is extrapolated from adult data. This systematic review aims to present the epidemiology, most common etiologies, clinical presentation, and most accepted standard of care of TS in children. We aim to raise awareness of hyperthyroidism in the pediatric community. Content The databases used were PubMed, google scholar, and LILACS, with the search terms “thyroid storm” AND “pediatrics”. Studies included case reports and case series in English and Spanish from patients between the ages of 0–21 years with clinical features consistent with a diagnosis of TS based on ATA 2016, with or without reported scale scores, published between 2000 and 2022. Variables such as ethnicity, etiology, possible triggers, clinical features, and management components were analyzed and presented. Summary We analyzed data from 45 patients. Their mean age was 11.25 years. The majority of them were from Asia (26%). The most common clinical features were sinus tachycardia (86.7%) and fever (64%), followed by altered mental status (46%) and diarrhea (31%). Graves’ disease was the most common underlying condition, and infection the most common precipitant. Thirty one percent of patients received treatment with four components; however morbidity and mortality were not clinically significant with those who did not. TS has a heterogeneous presentation with multisystemic involvement. The most common symptoms in this review were fever, tachycardia, diarrhea, and altered mental status. Outlook Further studies may be needed to best standardize the diagnosis and management of TS in children. Qualitative studies are needed to best assess the delay in diagnosis of hyperthyroidism and how this may impact prognosis in case patients were to develop TS.

Opinion Paper

January 12, 2023

DSD/intersex: historical context and current perspectives

Peter A. Lee, Tom Mazur, Christopher P. Houk

Page range: 234-241

Abstract

Intersex/Disorders/Differences of sex development conditions have been recognized for millennia. An organized approach was adopted in the 1960–70s using the philosophy that gender identity was fluid and malleable. Consequences of this approach were the lack of disclosure, stigmatization, and excessive surgery to “normalize” the genitalia. Often this led to quality of life issues for those patients. There have been many modifications in approach since then to avoid the problems noted. There is consensus on many of these changes (e.g. disclosure) but continued controversy on others (e.g. the benefits of early surgery). This review summarizes the historical context and the current areas of consensus and controversy.

Original Articles

January 11, 2023

Predictive value of 6 h postoperative parathyroid hormone level on permanent hypoparathyroidism in pediatric total thyroidectomy: a pilot study

Olivia A. Keane, Shasha Bai, Kristina Cossen, Briana C. Patterson, Kara K. Prickett, Kurt F. Heiss, Matthew T. Santore

Page range: 242-247

Abstract

Objectives Transient hypocalcemia is a common complication after pediatric total thyroidectomy, while permanent hypoparathyroidism (PH) is relatively uncommon. To date there is no model to predict which patients will develop PH based on post-operative makers. We aim to identify pediatric patients who are at high risk of PH following thyroidectomy based on 6 h post-operative parathyroid hormone (PTH) value. Methods A retrospective review of 122 pediatric patients undergoing total thyroidectomy between 2016 and 2022 following implementation of a multidisciplinary team was performed. Outcome of interest was permanent hypoparathyroidism, defined as need for calcium supplementation at 6 months postoperatively. Receiver operating characteristic (ROC) analysis was used to determine PTH value at 6 h post-operative that was predictive of permanent hypoparathyroidism. Results Rates of permanent hypoparathyroidism reported are similar to those described in the literature with 12 patients (10.9%) developing PH. In patients who developed PH, mean 6 h postoperative PTH was 5.12 pg/mL. Mean 6 h postoperative PTH level in those who did not develop PH was 31.34 pg/mL (p<0.0001). The 6 h post-operative PTH value predictive for PH was ≤11.3 pg/mL. PTH cutoff of ≤11.3 pg/mL had a sensitivity of 100%, specificity of 72.2%, positive predictive value (PPV) of 27.0%, and negative predictive value (NPV) of 100%. Conclusions 6 h postoperative PTH values were found to be predictive of permanent hypoparathyroidism in pediatric total thyroidectomy: a 6 h postoperative PTH level of >11.3 pg/mL excludes permanent hypoparathyroidism, but if PTH is ≤11.3 pg/mL at 6 h, approximately 1/3 of patients may persist with permanent hypoparathyroidism.

February 3, 2023

Evaluation of a nurse-led counselling intervention on selected outcome variables for parents of children with congenital adrenal hyperplasia

Poonam Verma, Sunita Sharma, Sukhwinder Kaur, Latika Rohilla, Prahbhjot Malhi, Devi Dayal

Page range: 248-254

Abstract

Objectives Long-term care of children with congenital adrenal hyperplasia (CAH) has psycho-social implications for parents. Experts recommend a customized educational program for parents to facilitate their psychological adaptation and improve disease management. Such educational programs often provided by nurse counsellors are well evaluated in developed countries. There is a dearth of data on nurse-led counselling in the context of less developed countries. We aimed to evaluate the effect of a nurse-led counselling intervention on various psycho-social outcomes among parents of children with CAH. Methods Fifty consecutive parents of children with CAH attending an outpatient clinic at a tertiary-care teaching hospital were enrolled. Parents’ stress level, stigma, knowledge, practices, and treatment adherence were assessed by using Cohen’s Perceived Stress Scale (PSS), DSD Stigma scale, and HILL-Bon Medication Adherence Scale (HB-MAS). Three educational counselling sessions were conducted within a month’s gap, using PowerPoint presentations and a booklet. Assessment of outcomes was done at baseline and at the end of the third session. Results At baseline, the majority (90%) of the parents had moderate stress. Half of the parents had mild and the rest had moderate stigma. After the intervention, the majority (94%) of parents had shifted to mild levels of stress and stigma. At baseline, 86% of the parents had poor knowledge about the disease whereas post-intervention, 80% were having good knowledge. Disease management practices and treatment adherence also improved after the intervention. Conclusions Nurse-led counselling was effective in reducing psycho-social problems, increasing knowledge, as well as improving practices and treatment adherence.

Open Access February 3, 2023

The relationship between estrogen and subsequent growth restriction among adolescents with heavy menstrual bleeding at menarche

Jessie M. Nelson, Sarah D. Compton, Mina M. Farahzad, Olivia K. Winfrey, Monica W. Rosen

Page range: 255-260

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Abstract

Objectives We sought to evaluate the impact of estrogen-containing treatment for heavy menstrual bleeding (HMB) on subsequent height compared to progesterone-only or non-hormonal treatment when initiated at menarche. Methods We performed a retrospective chart review of adolescent females aged 10–15 years who presented to an institution-affiliated outpatient, inpatient, or emergency setting for management of HMB within three months of menarche. Growth records over a 2 year period starting at menarche were recorded, and comparisons made among patients treated with 1) estrogen, 2) progesterone, and 3) non-hormonal methods (controls). Groups were compared using bivariate analysis with Chi-square or Fisher’s exact test and linear regression. Results In an analysis of 80 patients at 24 months, the mean increase in height from menarche was 6.4 cm among controls (n=54), 7.2 cm among the progesterone-only group (n=10), and 3.8 cm among the estrogen group (n=16). The estrogen group’s increase in height was significantly lower than the control group’s, by a mean of 1.8 cm (p=0.04). Change in height did not differ significantly between the progesterone and control groups (p=0.87). Additionally, for every year younger at menarche, there was 1 fewer cm of growth (change in height) at 24 months after menarche (p<0.002). Conclusions Estrogen-containing treatment for HMB initiated within three months of menarche was associated with reduced growth at 24 months compared to progesterone-only or non-hormonal methods. The clinical applicability of the estrogen group’s 1.8 cm absolute reduction in height may have considerable significance for those who are shorter at baseline.

Open Access February 3, 2023

An open-label extension of a phase 2 dose-finding study of once-weekly somatrogon vs. once-daily Genotropin in children with short stature due to growth hormone deficiency: results following 5 years of treatment

Zvi Zadik, Nataliya Zelinska, Violeta Iotova, Yulia Skorodok, Oleg Malievsky, Nelly Mauras, Srinivas Rao Valluri, Aleksandra Pastrak, Ron Rosenfeld

Page range: 261-269

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Abstract

Objectives Somatrogon is a long-acting recombinant human growth hormone (GH) employed as a once-weekly treatment for children with GH deficiency (GHD). A 12-month, phase 2 study of once-weekly somatrogon vs. once-daily GH (Genotropin ® ) was initiated, after which participants could enroll into an open-label extension (OLE) evaluating the safety and efficacy of long-term somatrogon treatment. Methods There were five study periods, Periods I and II were 6 months each while Periods III, IV, and V were 12 months each. In the main study (Periods I and II), 53 prepubertal children with GHD were randomized to once-weekly somatrogon (0.25, 0.48, or 0.66 mg/kg/week) or once-daily Genotropin (0.034 mg/kg/day); 48 continued into the OLE, consisting of Period III (original somatrogon dose; Genotropin recipients randomized to one of three somatrogon doses), Period IV (somatrogon 0.66 mg/kg/week), and Period V (prefilled somatrogon pen [0.66 mg/kg/week]). Results At the end of Period III, the mean ± SD annual height velocity (HV) for 0.25, 0.48, and 0.66 mg/kg/week somatrogon groups was 7.73 ± 1.89, 7.54 ± 1.28, and 8.81 ± 1.12 cm/year, respectively; HV was sustained during Periods IV/V. Height SD scores (SDS) showed progressive improvement throughout the OLE, regardless of initial cohort assignment, approaching the normal range (−0.69 ± SD 0.87) at the end of Period V Year 1. Mild or moderate treatment-emergent adverse events were reported in 81.3% of participants, most unrelated to study drug. Conclusions Up to 5 years of once-weekly somatrogon was well tolerated and resulted in sustained improvement in height SDS and delta height SDS in prepubertal short children with GHD.

February 2, 2023

Normal bone density but altered geometry in girls with Turner syndrome

Roland Schweizer, Judith Mayer, Gerhard Binder

Page range: 270-277

Abstract

Objectives Data on bone density and stability in Turner syndrome (TS) are contradictory. A confounding factor for interpretation is short stature. The aim was to measure bone density, geometry and stability in girls with TS compared to idiopathic short stature (ISS). Methods From 1999 to 2008, 59 girls with TS (35 prepubertal) were evaluated by pQCT. Mean age was 8.9 in prepubertal and 17.3 years in adolescent girls. Mean height was −3.1 and −1.8 SDS in prepubertal treatment-free and in adolescent, formerly rhGH-treated girls. For comparison, 18 prepubertal ISS girls were studied (age 7.7 years; height −3.3 SDS). Examination of radius with pQCT (XCT 2000). Cortical (CD) and trabecular density (TD), total bone area (TBA), cortical area (CA), cortical thickness, muscle area and strength strain index (SSI) were determined and compared with height related references. Results In prepubertal girls with TS, TD and CD were normal (0.55 and 0.90 SDS) and comparable to ISS (0.95 and 1.53 SDS). TBA was greater in girls with TS than in ISS (0.87 vs. −0.33 SDS) whereas CA was similar (1.48 vs. 1.43 SDS). The SSI was comparable (1.61 vs. 1.56 SDS). Adolescent girls with TS showed similar results with a TD of 0.48 SDS, a CD of −0.32, TBA of 1.99, a CA of −0.05 and an SSI of 0.88 SDS. Conclusions The observations are consistent with normal bone density and stability but altered bone geometry in prepubertal and substituted adolescent girls with TS. This peculiarity may reflect SHOX deficiency. We therefore think that timely and adequate estrogen substitution could prevent bone loss in TS.

January 20, 2023

Newborn screening for inborn errors of metabolism in a northern Chinese population

Genxian Liu, Xingying Liu, Yiming Lin

Page range: 278-282

Abstract

Objectives Newborn screening (NBS) for inborn errors of metabolism (IEMs) has been successfully implemented in China. However, the data on the IEM profiles in many regions are lacking. This study aimed to report the incidence, disease spectrum, and genetic profile of IEMs in northern China. Methods A total of 36,590 newborns were screened using tandem mass spectrometry between January 2016 and April 2022. Newborns with positive results were referred for confirmatory testing. Results Ten patients were confirmed to have IEMs, with an overall incidence of 1:3,539 in the Rizhao region. Five types of IEMs were detected, including four patients with propionic acidemia (PA), three patients with methylmalonic acidemia (MMA), one of each with citrin deficiency, primary carnitine deficiency, and isobutyryl-CoA dehydrogenase deficiency. PA was the most common IEM, with an unexpectedly high incidence of 1:8,848, followed by MMA, with an incidence rate of 1:11,797. All patients had abnormal screening markers and harbored biallelic variants in their respective causative genes. Two novel PCCB variants (c.505G>A and c.1123_1124insG) were identified in patients with PA. In silico analyses predicted that these two variants were potentially pathogenic. Conclusions This study preliminarily clarified the incidence, disease spectrum, and genetic profile of IEMs in the Rizhao region. PA is the most common IEM and MMA is the second most common in our region. The two novel identified PCCB variants further expand the variant spectrum of PA. More attention should be paid to NBS, early diagnosis, and management of PA and MA.

January 20, 2023

Evaluation of serum telomerase activity in normal-weight young girls with polycystic ovary syndrome and its relation to metabolic parameters

Cemal Unlu, Gurhan Guney, Duygu Tugrul Ersak, Arzu Kosem, Nurten Tarlan, Aytekin Tokmak

Page range: 283-289

Abstract

Objectives This study investigated the discriminative value of serum telomerase levels in polycystic ovary syndrome (PCOS) and its relation to metabolic parameters. Methods Patients aged 16–23 years old who visited an adolescent outpatient clinic were included in the study. Our study consisted of 45 non-obese girls with polycystic ovary syndrome (PCOS), while our control group consisted of 45 healthy girls with normal menstrual cycles and no signs of hyperandrogenism. During the early follicular phase, all individuals were analyzed for serum telomerase levels, blood cell count, biochemical parameters, basal hormone levels, lipid profile and homeostatic model assessment of insulin resistance (HOMA-IR) index. Results Serum telomerase levels in PCOS patients were considerably lower (80.0 ± 52.8 IU/mL) than in the controls (113.1 ± 54.9 IU/mL) (p=0.004). We observed that blood telomerase levels less than 108.6 distinguished PCOS group from healthy controls with a sensitivity of 73.33% and a specificity of 57.78%. Low-density lipoprotein cholesterol, HOMA-IR index, Ferriman–Gallwey score and dehydroepiandrosterone sulfate values were higher in the study group. Moreover, serum telomerase levels were inversely correlated with body mass index (r=−0.339, p=0.023) and triglycerides (r=−0.511, p=0.002) in this group. Telomerase levels were also considerably lower in patients with metabolic syndrome (p=0.005). Conclusions Serum telomerase activity is lower in PCOS patients than in healthy controls. Furthermore, decreased serum telomerase levels may correlate well with the metabolic complications of PCOS.

January 6, 2023

Early onset of puberty during COVID-19 pandemic lockdown: experience from two Pediatric Endocrinology Italian Centers

Martina Goffredo, Alba Pilotta, Ilaria Parissenti, Concetta Forino, Cesare Tomasi, Paolo Goffredo, Fabio Buzi, Raffaele Badolato

Page range: 290-298

Abstract

Objectives During COVID-19 pandemic lockdown, reports of evaluations for suspected precocious puberty significantly raised. We aimed to assess the increase of precocious puberty in patients referred to Pediatric Endocrinology Units of Brescia (Italy), to determine clinical characteristics of patients undergoing a GnRH stimulation test before and during lockdown and evaluate the role of environmental factors in pubertal development. Methods Clinical and biochemical data of patients undergoing GnRH stimulation test were collected and stratified in two groups: March 2019 – February 2020 (Period 1) and March 2020 – February 2021 (Period 2). Results A total number of 391 evaluations for suspected precocious puberty were identified in the two study periods: 183 (46.8%) first visits during Period 1, and 208 (53.2%) in Period 2. Sixty-one patients underwent a GnRH stimulation test (4.1% of first consultations) before the SARS-CoV2 pandemic, and 93 children (8.7%) after the lockdown. Thirty-four new diagnoses of central precocious puberty were registered during Period 1 (2.3%), vs. 45 new cases (4.2%) in Period 2. During lockdown patients evaluated for suspected precocious puberty underwent a stimulation test at younger age than those evaluated before pandemic (median age of 8.2 years vs. 8.4, p=0.04). In Period 2, children showed a median bone age advancement of 0.61 years vs. 1.06 of Period 1 (p=0.03). Conclusions During the COVID-19 pandemic, we observed an increased proportion of consultations for suspected precocious puberty. These children showed lower bone age advancement than observed in pre-lockdown suggesting the influence of pandemic-related lifestyle changes on pubertal development.

Open Access December 5, 2022

Using change in predicted adult height during GnRH agonist treatment for individualized treatment decisions in girls with central precocious puberty

Marcela Vargas Trujillo, Peter A. Lee, Kent Reifschneider, Philippe F. Backeljauw, Sanja Dragnic, Stephen Van Komen, Jun Yu, Karen O. Klein

Page range: 299-308

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Abstract

Objectives It is important to understand what variables influence change in predicted adult height (PAH) throughout GnRHa treatment for central precocious puberty (CPP) to individualize treatment decisions and optimize care. Methods Changes in PAH, chronological age (CA), bone age (BA), BA/CA, and height velocity (HV) were evaluated in girls with CPP throughout treatment with leuprolide acetate (n=77). A second analysis focused on changes in the 3 years preceding the first observed BA of ≥12 years. Relationships were characterized using plot inspection and linear mixed-effects analyses. Association between treatment duration and last assessed PAH was examined using multiple linear regression models. Results BA/CA and HV showed a nonlinear change during treatment, with the largest changes and improvement in PAH observed in the first 6–18 months. Rate of BA advancement tended to decrease more slowly in girls initiating treatment at a younger BA. On-treatment change in PAH was predicted by concurrent BA/CA change, HV, and BA, as well as CA at treatment initiation. Last assessed PAH was positively associated with longer treatment durations (primary/exploratory models cut-offs of ≥33/≥55 months). Conclusions These findings support individualized monitoring during GnRHa treatment. Initial response should be interpreted with caution until 6–18 months after treatment initiation and failure should not be assumed based on continued bone maturation in girls starting therapy at a younger age. Treatment cessation should not be automatically based on a diminishing change in PAH or HV, as ongoing treatment may result in continued increase or maintenance of PAH.

Short Communications

January 11, 2023

Long-term experience with the use of a single histrelin implant beyond one year in patients with central precocious puberty

Lauren A. Ray, George J. Eckert, Erica A. Eugster

Page range: 309-312

Abstract

Objectives The histrelin implant has been used to treat central precocious puberty (CPP) for more than 15 years. Although approved for annual use, limited published reports suggest that a single implant is efficacious well beyond a year. Our objective was to report our long-term experience using a single histrelin implant for more than 12 months in children with CPP. Methods We performed a retrospective study of 170 children with central precocious puberty treated with a single histrelin implant for more than 1 year. Results Implants were left in situ for an average of 24 months. Pubertal development regressed or remained stable in the vast majority of patients and biochemical suppression was maintained. No correlation between time since an implant was placed and complications such as implant breakage or a second incision was seen. Conclusions A single histrelin implant provides excellent pubertal suppression well beyond a year. Extended use of a single histrelin implant should be considered standard of care in children with CPP.

January 16, 2023

Relationships among biochemical measures in children with diabetic ketoacidosis

Nicole S. Glaser, Michael J. Stoner, Maria Y. Kwok, Kimberly S. Quayle, Kathleen M. Brown, Jeff E. Schunk, Jennifer L. Trainor, Julie K. McManemy, Leah Tzimenatos, Arleta Rewers, Lise E. Nigrovic, Jonathan E. Bennett, Sage R. Myers, McKenna Smith, T. Charles Casper, Nathan Kuppermann

Page range: 313-318

Abstract

Objectives Investigating empirical relationships among laboratory measures in children with diabetic ketoacidosis (DKA) can provide insights into physiological alterations occurring during DKA. We determined whether alterations in laboratory measures during DKA conform to theoretical predictions. Methods We used Pearson correlation statistics and linear regression to investigate correlations between blood glucose, electrolytes, pH and PCO 2 at emergency department presentation in 1,681 pediatric DKA episodes. Among children with repeat DKA episodes, we also assessed correlations between laboratory measures at the first vs. second episode. Results pH and bicarbonate levels were strongly correlated (r=0.64), however, pH and PCO 2 were only loosely correlated (r=0.17). Glucose levels were correlated with indicators of dehydration and kidney function (blood urea nitrogen (BUN), r=0.44; creatinine, r=0.42; glucose-corrected sodium, r=0.32). Among children with repeat DKA episodes, PCO 2 levels tended to be similar at the first vs. second episode (r=0.34), although pH levels were only loosely correlated (r=0.19). Conclusions Elevated glucose levels at DKA presentation largely reflect alterations in glomerular filtration rate. pH and PCO 2 are weakly correlated suggesting that respiratory responses to acidosis vary among individuals and may be influenced by pulmonary and central nervous system effects of DKA.

Case Reports

November 10, 2022

Hyperthyroidism in McCune–Albright Syndrome – a case report

Patrícia Rosinha, Diogo Ramalho, Orlando Rodrigues, Sérgio Sousa, Cristina Alves, Joana Lopes, Joana Serra Caetano, Alice Mirante

Page range: 319-322

Abstract

Objectives We intend to describe a case of McCune-Albright Syndrome (MAS), a rare disease characterized by fibrous dysplasia (FD), cutaneous hyperpigmentation and hyperfunctioning endocrinopathies (HFE). Case presentation We report the case of a 13-year-old male child who presented with a café-au-lait macule in the lumbosacral region and disabling polyostotic FD, requiring several surgical interventions and bisphosphonates from the age of 3 years (Y) + 9 months (M) due to persistent and severe pain. Hyperthyroidism (HT) became apparent at 5 Y + 1 M with a T3/T4 ratio greater than 20. Treatment with anti-thyroid drugs (ATD) was carried out for 7 Y and there was a progressive improvement in pain complaints 8 M after starting ATD, allowing treatment with pamidronate to be discontinued. Total thyroidectomy was performed at 12 Y + 5 M. Conclusions This is a case of MAS-associated HT that reflects the deleterious effect of thyroid hormone excess on FD, reinforcing the need of having a low threshold for suspicion of HFE that may arise.

January 6, 2023

Sexual precocity in the setting of parental use of a compounded testosterone cream: case report and review of the literature

Elena Georges, Vanessa Cedarbaum, Daniel Isaac Bisno, Ian Marshall

Page range: 323-326

Abstract

Objectives Person-to-person transmission of transdermal testosterone – termed secondary exposure – is a rare but important cause of precocious puberty. Case presentation A 3.5-year-old male was evaluated for precocious puberty based on a 6 month history of penile growth, development of secondary sexual characteristics, and growth spurt. Total testosterone level was significantly elevated at 1,460 ng/dL with normal prepubertal gonadotropin levels. Further history revealed that the father had been using transdermal testosterone for about 1 year. Within 2 months of discontinuation, total testosterone level was 20 ng/dL. Conclusions Given the recent increase in transdermal testosterone prescriptions, clinicians must consider exogenous hormonal exposure as an etiology for precocious puberty. Prescribers should counsel their patients about the significant risk of secondary exposure.

November 28, 2022

Intracardiac thrombosis following intravenous zoledronate treatment in a child with steroid-induced osteoporosis

Samantha J. Case, Rebecca J. Moon, Tara Bharucha, Justin H. Davies

Page range: 327-330

Abstract

Objectives Bisphosphonates are used in childhood osteoporosis but can cause an acute phase reaction (APR) and hypocalcemia. We present a child with cardiac thrombosis following zoledronate, a previously unreported complication. Case presentation An 11-year-old with Duchenne muscular dystrophy and steroid-induced osteoporosis presented 48 h after first zoledronate infusion with fever, tachycardia, tachypnoea and hypoglycaemia. This was managed as acute adrenal crisis and possible sepsis. He also had hypocalcemia, hypophosphatemia, hyponatraemia and hypokalaemia. Echocardiography performed due to persistent chest pain and tachycardia revealed a left ventricular thrombus. Conclusions Potential causes for intracardiac thrombosis in this patient include ventricular dysfunction due to acute adrenal crisis or electrolyte disturbance, and hypercoagulability due to the APR. Echocardiography should be considered in children with acute cardiovascular compromise following zoledronate. Stress-dose steroids to cover the APR and a reduced starting dose of zoledronate might have reduced the risk of this complication.

January 23, 2023

Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance

Zahra Beyzaei, Fatih Ezgu, Mohammad Hadi Imanieh, Mahmoud Haghighat, Seyed Mohsen Dehghani, Naser Honar, Bita Geramizadeh

Page range: 331-334

Abstract

Objectives Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far. Case presentation Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction. The primary impression has been hepatic glycogen storage disease type 1 or 6. This diagnosis was not confirmed by laboratory data and liver biopsy. Therefore, targeted-gene sequencing (TGS) covering 450 genes involved in inborn errors in metabolic diseases was performed. The results of TGS showed a rare novel homozygous pathogenic variant c.944del (p.Gly315ValfsTer15) in the ALDOB gene. Conclusions This report introduces a novel variant that expands the mutational spectrum of the ALDOB gene in patients with HFI.

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5-year Impact Factor	1.587
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Impact Factor	1.520
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Submit your paper via our Scholar One submission management tool following the Information for Authors. After logging in you will be guided through every step of the submission process
Single-blind peer review process
A decision on your paper is aspired within 2-4 weeks
Accepted articles are published online ahead of print approx. 4 weeks after acceptance

Please note

Manuscripts must be written in clear and concise English
Before submitting your article please have a look at our Ethical Guidelines and our Licence to Publish
The Ethics Statements for our journal are based on the Committee on Publication Ethics (COPE) Best Practice Guidelines for Journal Editors
For every submission, authors have to fill out and upload the Template for Ethical and Legal Declarations at the time of the original submission. Instructions on how to make declarations can be found here
Once your article is accepted you have the option to publish it open access
Our Repository Policy allows you to distribute 30 PDF copies of your published article to colleagues (the PDF has to include the information that it is an author's copy). Please also feel free to distribute the link to the online abstract
If you have any general questions please visit our FAQ page for authors
For more detailed information please contact the JPEM Editorial Office at jpem.editorial@degruyter.com

We look forward to receiving your manuscript!

Hybrid Open Access

In this journal, authors have the option to publish their article under an open access license. Open Access allows you as an author to retain copyright and share your findings with colleagues and interested parties worldwide without any restraints.
Please note that authors from institutions with which we have a transformative agreement can publish open access without paying an article processing charge (APC). More information on the eligible institutions and articles can be found under the "Funding and Support" tab here.

Editorial

Editor-in-Chief
Wieland Kiess, Leipzig, Germany

Honorary Editor
Zvi Zadik, Rehovot, Israel

Assistant 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
Feihong Luo, Shanghai, China
Rod Mitchell, Edinburgh, United Kingdom
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