journal: Journal of Pediatric Endocrinology and Metabolism

Impact Factor: 1.4

Published since January 1, 1985

Journal of Pediatric Endocrinology and Metabolism

ISSN: 2191-0251

Editor-in-chief: Wieland Kiess

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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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Up-to-date research on pediatric endocrinology and metabolism
Clinical investigations and basic research from all over the world
Worldwide-known editors and reviewers
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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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Ahead of Print / Just Accepted

Ahead of Print / Just Accepted

Volume 37 (2024)

Volume 36 (2023)

Volume 35 (2022)

Volume 34 (2021)

Volume 33 (2020)

Volume 32 (2019)

Volume 31 (2018)

Volume 30 (2017)

Volume 29 (2016)

Volume 28 (2015)

Volume 27 (2014)

Volume 26 (2013)

Volume 25 (2012)

Volume 24 (2011)

Volume 23 (2010)

Volume 22 (2009)

Volume 21 (2008)

Volume 20 (2007)

Volume 19 (2006)

Volume 18 (2005)

Volume 17 (2004)

Volume 16 (2003)

Volume 15 (2002)

Volume 14 (2001)

Volume 13 (2000)

Volume 12 (1999)

Volume 11 (1998)

Volume 10 (1997)

Volume 9 (1996)

Volume 8 (1995)

Volume 7 (1994)

Volume 6 (1993)

Volume 5 (1992)

Volume 4 (1991)

Volume 3 (1989)

Volume 2 (1987)

Volume 1 (1985)

Journal Impact Factor	1.4	2022, Journal Citation Reports (Clarivate, 2023)
5-year Journal Impact Factor	1.5	2022, Journal Citation Reports (Clarivate, 2023)
Journal Citation Indicator	0.45	2022, Journal Citation Reports (Clarivate, 2023)
CiteScore	2.4	2022, Scopus (Elsevier B.V., 2023)
SCImago Journal Rank	0.430	2022, SJR (Scimago Lab, 2023; Data Source: Scopus)
Source Normalized Impact per Paper	0.624	2022, CWTS Journal Indicators (CWTS B.V., 2023; Data Source: Scopus)

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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
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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.
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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
Jan Gustafsson, Uppsala, Sweden
Sasha Howard, London, United Kingdom
Feihong Luo, Shanghai, China
Raja Padidela, Manchester, United Kingdom
Burcu Öztürk-Hişmi, Istanbul, Turkey
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

Volume 37 Issue 5

May 2024

Publicly Available May 6, 2024

Frontmatter

Page range: i-iv

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Review

Open Access March 29, 2024

Tackling access and payer barriers for growth hormone therapy in Saudi Arabia: a consensus statement for the Saudi Working Group for Pediatric Endocrinology

Najya Attia, Khairya Moussa, Abdulaziz Altwaim, Abdulmoein Eid Al-Agha, Ashraf A. Amir, Aseel Almuhareb

Page range: 387-399

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Abstract

Prompt diagnosis and early treatment are key goals to optimize the outcomes of children with growth hormone deficiency (GHD) and attain the genetically expected adult height. Nonetheless, several barriers can hinder prompt diagnosis and treatment of GHD, including payer-related issues. In Saudi Arabia, moderate-to-severe short stature was reported in 13.1 and 11.7 % of healthy boys and girls, respectively. Several access and payer barriers can face pediatric endocrinologists during the diagnosis and treatment of GHD in Saudi Arabia. Insurance coverage policies can restrict access to diagnostic tests for GHD and recombinant human growth hormone (rhGH) due to their high costs and lack of gold-standard criteria. Some insurance policies may limit the duration of treatment with rhGH or the amount of medication covered per month. This consensus article gathered the insights of pediatric endocrinologists from Saudi Arabia to reflect the access and payer barriers to the diagnostic tests and treatment options of children with short stature. We also discussed the current payer-related challenges endocrinologists face during the investigations of children with short stature. The consensus identified potential strategies to overcome these challenges and optimize patient management.

Original Articles

April 4, 2024

Does an episode of diabetic ketoacidosis affect thyroid function tests in pediatric patients?

Gülhan Atakul, Huseyin Anıl Korkmaz, Ahmet Gönüllü, Özlem Saraç Sandal, Özge Köprülü, Nilüfer Uyar, Utku Karaaslan, Hurşit Apa, Hasan Ağın, Behzat Özkan

Page range: 400-404

Abstract

Objectives The aim of our study was to investigate the changes in thyroid hormone levels during and after acute metabolic disorder in patients with diabetic ketoacidosis (DKA). Methods Eighty five patients diagnosed with DKA were included in the study. Patients with control thyroid function test (TFT) values at admission (the first blood sample) and 1 month later were included in the study. Thyroid function tests obtained during diabetic ketoacidosis and at the first month follow-up were compared. Euthyroidism and euthyroid sick syndrome were defined and grouped according to current guidelines. The mild and moderate groups, according to DKA classification, were combined and compared with the severe group. Results A significant increase was observed between the first admission and the control TFT values 1 month later. However, there was no significant difference found in TFT between mild/moderate and severe groups taken at the time of DKA. Difference between two groups, euthyroid sick syndrome and euthyroid, was examined and the result that was different from the literature was the difference between TSH levels. We found that low FT4 levels were associated with higher HgbA1c, although the correlation was weak. Conclusions Thyroid hormone levels may not reflect a thyroid disease during severe DKA attack. Therefore, it is unnecessary to check thyroid function tests.

April 9, 2024

Association between proinflammatory cytokines and arterial stiffness in type 1 diabetic adolescents

Mónica Reis, Ana Teixeira, Juliana Cardoso, Teresa Borges, Alberto Caldas Afonso, Liane Correia-Costa

Page range: 405-412

Abstract

Objectives Type 1 diabetes mellitus is considered a state of chronic low-grade inflammation and activation of the innate immune system, which is regulated by several proinflammatory cytokines and other acute-phase reactants. Arterial stiffness, a dynamic property of the vessels evaluated by the determination of pulse wave velocity (PWV), is increased in diabetic patients and is associated with microvascular and macrovascular complications of diabetes and higher cardiovascular risk. In the present study, we aimed to compare the proinflammatory state and arterial stiffness in diabetic and non-diabetic adolescents, and to characterize the association between these two parameters. Methods Twenty-three type 1 diabetic patients, aged 12–16 years, followed at a tertiary center, and 23 adolescents nonoverweighted healthy controls, from a Portuguese birth-cohort, were included in the present analysis. Anthropometry, blood pressure, glycemic control data, and lipid parameters were collected. Arterial stiffness was evaluated by carotid–femoral pulse wave velocity. Proinflammatory cytokines’ concentrations (TNF-α, IL-1β, IL-6, IL-10, IFN-γ, and GM-CSF) were quantified by multiplex immunoassays using a Luminex 200 analyzer. Results There were no statistically significant differences between the proinflammatory cytokines’ concentrations in the two groups. PWV [6.63 (6.23–7.07) vs. 6.07 (5.15–6.65) m/s, p=0.015] was significantly higher in the diabetic group. PWV was negatively correlated with GM-CSF (ρ=−0.437, p=0.037) in the diabetic group. A linear association was found between diabetes duration and PWV (with PWV increasing by 0.094 m/s (95 % confidence interval, 0.019 to 0.169) per month of disease duration). In the diabetic group, HbA 1c was negatively correlated with IL-10 (ρ=−0.473, p=0.026). Negative correlations were also found between IL-10 and total, HDL, and LDL cholesterol only in the diabetic group. Conclusions Diabetic adolescent patients present higher PWV, when compared to their healthy counterparts, even though we could not find differences in the levels of several proinflammatory cytokines between the two groups. The negative correlation found between IL-10 and HbA 1c might translate a protective counterbalance effect of this anti-inflammatory cytokine, which might also explain the negative correlations found with blood lipids. Further studies are needed to better clarify the association between arterial stiffness and the proinflammatory milieu of diabetes.

April 17, 2024

Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy

Ayse Kilic, Merve Emecen Sanli, Ekin Ozsaydı Aktasoglu, Sabire Gokalp, Gürsel Biberoğlu, Aslı Inci, Ilyas Okur, Fatih Suheyl Ezgu, Leyla Tumer

Page range: 413-418

Abstract

Objectives Gaucher disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy. It has been hypothesized that this proinflammatory state of GD leads cytokines and chemokines release. As a result of inflammatory process, the cellular dysfunction caused by disruption of cellular signaling, organelle dysfunction, or autoimmune antibodies may affect endocrine profile of GD patients such as hormone levels, lipid profile, and bone mineral density status. Methods A total of 13 patients confirmed to have GD, 12 non-neuronopathic type and one subacute neuronopathic type, were enrolled in our study. Results The median treatment duration in the enzyme therapy was 13.33 years (9–26 years). At least one endocrinological abnormality was detected in blood tests of nine patients. Hyperinsulinism was the most common finding although fasting blood glucose levels HgbA1c levels were normal in all patients. Two patients had osteopenia, and osteoporosis was detected in two patients. Low HDL levels were detected in six patients, but HDL levels below 23 mg/dL associated with disease severity have been detected in two patients who have not receiving enzyme replacement therapy. None of patients had thyroidal dysfunction. Conclusions This study had revealed endocrinological abnormalities in GD patients that have not led any severe morbidity in our patients. However, thyroid hormone abnormalities, insulin resistance, or lipid profile abnormalities may cause unpredictable comorbidities. Endocrinological assessment in GD patients in routine follow-up may prevent possible clinical manifestation in long term as well as can define efficacy of ERT on endocrine abnormalities.

April 2, 2024

Diurnal 11-ketotestosterone and 17-hydroxyprogesterone saliva profiles in paediatric classical congenital adrenal hyperplasia

Ilja Dubinski, Susanne Bechtold-Dalla Pozza, Martin Bidlingmaier, James Hawley, Brian Keevil, Sonja Kunz, Hannah Franziska Nowotny, Nicole Reisch, Katharina Schiergens, Lea Tschaidse, Heinrich Schmidt

Page range: 419-424

Abstract

Objectives The most suitable biochemical markers for therapy adjustment in patients with congenital adrenal hyperplasia are controversial. 11-Oxygenated androgens are a promising new approach. The objective of this study was to investigate the diurnal rhythm of 11-ketotestosterone in children and adolescents in saliva and to correlate it with salivary 17-hydroxyprogesterone. Methods Fifty-one samples of steroid day-profiles from 17 patients were additionally analysed for 11-ketotestosterone, retrospectively. All patients were treated in our university outpatient clinic for paediatric endocrinology between 2020 and 2022. Steroid day-profiles of 17 patients could be examined. The cohort showed a balanced sex ratio. The median age was 13 years. The measurements for 17-hydroxyprogesterone were carried out during routine care by immunoassay. The measurements of 11-ketotestosterone were performed from frozen saliva samples using an implemented in-house protocol for liquid chromatography–tandem mass spectrometry (LC-MS/MS). The most important outcome were the absolute values for 11-ketotestosterone, their diurnal rhythmicity and the correlation with 17-hydroxyprogesterone. Results Both steroids show a circadian diurnal rhythm. 17-hydroxyprogesterone and 11-ketotestosterone correlate significantly. 11-Ketotestosterone showed a positive correlation with BMI at all times of the day. Conclusions 11-Ketotestosterone shows circadian rhythmicity in our cohort and correlates with 17-hydroxyprogesterone. These findings serve as an important basis for prospective research into 11-oxygenated androgens as therapeutic markers in paediatrics. However, 11-ketotestosterone appears to be very dependent on BMI.

April 18, 2024

Growth after pediatric kidney transplantation: a 25-year study in a pediatric kidney transplant center

Ana Raquel Claro, Ana Rita Oliveira, Filipa Durão, Patrícia Costa Reis, Ana Rita Sandes, Carla Pereira, José Esteves da Silva

Page range: 425-433

Abstract

Objectives Growth failure is one of the major complications of pediatric chronic kidney disease. Even after a kidney transplant (KT), up to 50 % of patients fail to achieve the expected final height. This study aimed to assess longitudinal growth after KT and identify factors influencing it. Methods A retrospective observational study was performed. We reviewed the clinical records of all patients who underwent KT for 25 years in a single center (n=149) and performed telephone interviews. Height-for-age and body mass index (BMI)-for-age were examined at KT, 3 months, 6 months, 1 year, and 5 years post-transplant and at the transition to adult care. We evaluated target height, disease duration before KT, need and type of dialysis, recombinant human growth hormone pretransplant use, nutritional support, glomerular filtration rate (GFR), and cumulative corticosteroid dose. Results At transplant, the average height z-score was −1.38, and height z-scores showed catch-up growth at 6 months (z-score −1.26, p=0.006), 1 year (z-score −1.15, p<0.001), 5 years after KT (z-score −1.08, p<0.001), and on transition to adult care (z-score −1.22, p=0.012). Regarding BMI z-scores, a significant increase was also detected at all time points (p<0.001). After KT, GFR was significantly associated with height z-score (p=0.006) and BMI z-score (p=0.006). The height in transition to adult care was −1.28 SD compared to the target height. Conclusions Despite the encouraging results regarding catch-up growth after KT in this cohort, results remain far from optimum, with a lower-than-expected height at the time of transition.

March 12, 2024

Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities

Nimisha S. Dange, Nikhil Shah, Chirantap Oza, Jyoti Sharma, Jyoti Singhal, Sushil Yewale, Shruti Mondkar, Shriniwas Ambike, Vaman Khadilkar, Anuradha V. Khadilkar

Page range: 434-440

Abstract

Objectives Wolfram syndrome is characterised by insulin-dependent diabetes (IDDM), diabetes insipidus (DI), optic atrophy, sensorineural deafness and neurocognitive disorders. The DIDMOAD acronym has been recently modified to DIDMOAUD suggesting the rising awareness of the prevalence of urinary tract dysfunction (UD). End stage renal disease is the commonest cause of mortality in Wolfram syndrome. We present a case series with main objective of long term follow up in four children having Wolfram syndrome with evaluation of their urodynamic profile. Methods A prospective follow up of four genetically proven children with Wolfram syndrome presenting to a tertiary care pediatric diabetes clinic in Pune, India was conducted. Their clinical, and urodynamic parameters were reviewed. Results IDDM, in the first decade, was the initial presentation in all the four children (three male and one female). Three children had persistent polyuria and polydipsia despite having optimum glycemic control; hence were diagnosed to have DI and treated with desmopressin. All four patients entered spontaneous puberty. All patients had homozygous mutation in WFS1 gene; three with exon 8 and one with exon 6 novel mutations. These children with symptoms of lower urinary tract malfunction were further evaluated with urodynamic studies; two of them had hypocontractile detrusor and another had sphincter-detrusor dyssynergia. Patients with hypocontractile bladder were taught clean intermittent catheterization and the use of overnight drain. Conclusions We report a novel homozygous deletion in exon 6 of WFS-1 gene. The importance of evaluation of lower urinary tract malfunction is highlighted by our case series. The final bladder outcome in our cases was a poorly contractile bladder in three patients.

March 12, 2024

Evaluation of copeptin in children after stimulation with clonidine or L-Dopa

Aristeidis Giannakopoulos, Dimitra Kritikou, Dionisios Chrysis

Page range: 441-444

Abstract

Objectives Arginine-stimulated serum copeptin has been proposed as a new method to diagnose arginine vasopressin (AVP) deficiency in children and adolescents. Herein we investigated the secretagogic potential of clonidine or L-Dopa on the copeptin serum levels in children. Methods Eight stimulation tests (4 with clonidine and 4 with L-Dopa) were performed in eight children (5 boys and 3 girls) with a median age of 6.5 years-old, evaluated for short stature due to possible growth hormone deficiency. Serum copeptin levels were measured at 30, 60, 90, and 120 min after administration of clonidine or L-Dopa. Results Copeptin levels in serum did not show any significant change in either test (clonidine or L-Dopa). The values of copeptin levels compared to the baseline value did not deviate more than 5 % in the clonidine arm (p=0.60) or 8 % in the L-Dopa arm (p=0.75) respectively. Conclusions Data do not support the use of L-Dopa or clonidine as stimulants for evaluating AVP relating disorders in clinical pediatric practice.

April 22, 2024

Examination of quality of life and psychiatric symptoms in childhood Graves’ disease

Gözde Yazkan Akgül, Özge Köprülü

Page range: 445-450

Abstract

Objectives The aim of our study is to examine the emotional, behavioral problems, and psychiatric symptoms of children diagnosed with Graves’ disease (GD), to assess their quality of life, and to compare with control group. Methods The research was planned as a cross-sectional study and included 16 patients with GD (13 female and three male) and 29 healthy children for control group (19 female and 10 male). Sociodemographic form, Pediatric Quality of Life Inventory, Revised Child Anxiety and Depression Scale-Child Version (RCADS-CV), Strengths and Difficulties Questionnaire (SDQ), Turgay DSM-IV-Based Child and Adolescent Behavior Disorders Screening and Rating Scale (T-DSM-IV-S), and Affective Reactivity Index scale were applied to the children and their families. Results Eighty one percent of GD group (GG) (n=13, mean age 15.1 ± 2.2) and 66 % of control group (CG) (n=19, 14.6 ± 2.2) were girls. No significant difference was found between GG and CG in terms of quality of life, anxiety, and depression scores. GG had higher scores in affective reactivity index, SDQ-P total score, and T-DSM-IV-S total scores (p values 0.039; 0.009; 0.023, respectively). While no significant difference was detected in the T-DSM-IV-S-inattention and hyperactivity scores, significantly higher scores were detected in oppositional defiance and conduct disorder scores (p values 0.172; 0.294; 0.019; 0.027, respectively). Conclusions In children with GD, irritability, oppositional defiant, and conduct disorder symptoms have been detected. Children with these mental health symptoms experience behavioral and emotional difficulties in their daily lives. It is important to follow up children with GD for possible comorbid psychiatric disorders.

April 15, 2024

Timing of onset of menses after GnRH agonist treatment for central precocious puberty

Karen O. Klein, Marcela Vargas Trujillo, Sanja Dragnic, Stephen Van Komen, Moming Li, Peter A. Lee

Page range: 451-461

Abstract

Objectives To understand possible predictors of the onset of menses after gonadotropin-releasing hormone agonist treatment cessation in girls with central precocious puberty (CPP). Methods This exploratory post hoc analysis of a phase 3 and 4 trial of girls with CPP treated with once-monthly intramuscular leuprolide acetate examined onset of menses after treatment completion using a time-to-event analysis. Pretreatment and end-of-treatment chronologic age (CA), bone age (BA)/CA ratio, and Tanner breast stage; pretreatment menses status; and end-of-treatment BA and body mass index (BMI) were studied as potential factors influencing the onset of menses. Results Median time to first menses after stopping treatment was 18.3 months among 35 girls (mean age at onset of treatment, 6.8 years) examined. Of 26 girls experiencing menses, 11 (42 %) menstruated at 16–21 months after stopping treatment. Most girls with pretreatment BA/CA≥1.4 started menstruating very close to 18 months after stopping treatment; those with less advanced BA/CA experienced menses at 9–18 months. End-of-treatment BA/CA≥1.2 was associated with a quicker onset of menses (14.5 vs. 18.5 months for BA/CA<1.2, p=0.006). End-of-treatment BA≥12 years predicted longer time to menses. No relationship with time to menses was observed for pretreatment menarche status, pretreatment or end-of-treatment Tanner breast stage (<3/≥3) or CA (<6/≥6 or ≤11/>11), or end-of-treatment BMI percentiles (<85.6/≥85.6 and <92.6/≥92.6). Conclusions Pretreatment menarche status or CA do not appear to predict onset of menses, but pre- and end-of-treatment BA/CA may be helpful in anticipating time to first menses after stopping treatment.

April 18, 2024

Implementation of the Mind Youth Questionnaire (MY-Q) for routine health-related quality of life screening of adolescents with type 1 diabetes in a large tertiary care center

Aleksandra Stojanova, Mary-Ann Harrison, Nicholas Mitsakakis, Zoyah Thawer, Nardin Kirolos, Liz Stevens, Jolianne Paul, Christine Richardson, Caroline Zuijdwijk, Ellen B. Goldbloom, Sarah Lawrence, Marie-Eve Robinson, Alexandra Ahmet

Page range: 462-466

Abstract

Objectives Prevalence of diabetes distress and mental health comorbidities among adolescents with type 1 diabetes (T1D) is high. Despite recommendations for routine psychosocial risk assessment, there is little guidance for their implementation. This study aims to describe the implementation and baseline outcomes of the Mind Youth Questionnaire (MY-Q), a validated psychosocial screening tool for health-related quality of life (QoL) including mood, among adolescents living with T1D. Methods Adolescents aged 13–18 years completed the MY-Q from October 1, 2019–April 1, 2023. Baseline characteristics, MY-Q results including categories flagged positive (noting possible areas of concern), debrief duration, and frequency of social work or mental health referral were collected and analyzed using descriptive statistics. Results A total of 343 adolescents (mean age 15.3 years; 52 % female) completed a baseline MY-Q. Median overall MY-Q debrief time (IQR) was 10.0 min (6.0, 20.0). About 290 (84.5 %) adolescents had at least one of seven categories flagged, most commonly “Family” (61 %). About 30 % of adolescents had “Mood” flagged, and 2.9 % of adolescents were referred to mental health following debrief. Conclusions Without the need for additional resources, implementation of the MY-Q in a pediatric tertiary care diabetes clinic successfully identified QoL issues and mental health concerns among adolescents with T1D.

Case Reports

March 27, 2024

Medulloblastoma in a child with osteoma cutis – a rare association due to loss of GNAS expression

Jananie Suntharesan, Ekaterina Lyulcheva-Bennett, Rachel Hart, Barry Pizer, James Hayden, Renuka Ramakrishnan

Page range: 467-471

Abstract

Objectives Inactivating GNAS mutations result in varied phenotypes depending on parental origin. Maternally inherited mutations typically lead to hormone resistance and Albright's hereditary osteodystrophy (AHO), characterised by short stature, round facies, brachydactyly and subcutaneous ossifications. Paternal inheritance presents with features of AHO or ectopic ossification without hormone resistance. This report describes the case of a child with osteoma cutis and medulloblastoma. The objective of this report is to highlight the emerging association between inactivating germline GNAS mutations and medulloblastoma, aiming to shed light on its implications for tumor biology and promote future development of targeted surveillance strategies to improve outcomes in paediatric patients with these mutations. Case presentation A 12-month-old boy presented with multiple plaque-like skin lesions. Biopsy confirmed osteoma cutis, prompting genetic testing which confirmed a heterozygous inactivating GNAS mutation. At 2.5 years of age, he developed neurological symptoms and was diagnosed with a desmoplastic nodular medulloblastoma, SHH molecular group, confirmed by MRI and histology. Further analysis indicated a biallelic loss of GNAS in the tumor. Conclusions This case provides important insights into the role of GNAS as a tumor suppressor and the emerging association between inactivating GNAS variants and the development of medulloblastoma. The case underscores the importance of careful neurological assessment and ongoing vigilance in children with known inactivating GNAS variants or associated phenotypes. Further work to establish genotype–phenotype correlations is needed to inform optimal management of these patients.

March 12, 2024

Ectopic lingual thyroid with subclinical hypothyroidism in children

Se Jin An, Min Hyung Cho, Young Suk Shim, Hae Sang Lee, Jin Soon Hwang

Page range: 472-476

Abstract

Objectives Lingual thyroid is a rare condition that affects approximately 1 in 100,000 individuals. Although it is usually detected in the pediatric population through newborn screening tests or evaluation of congenital hypothyroidism, there are cases in which it remains undetected until adulthood or until symptoms arise because of glandular enlargement. The possible symptoms of lingual thyroid include foreign body sensation in the throat, dysphagia, dyspnea, and hemorrhage. Several cases of lingual thyroid are asymptomatic and accompanied by subclinical hypothyroidism. Herein, we present three cases of lingual thyroid treated with thyroid hormone suppressive therapy. Case presentation The three patients sought medical attention because of a sore throat or foreign body sensation in the throat. Their newborn screening tests and developmental histories were normal. These patients exhibited subclinical hypothyroidism and were treated with hormone suppression therapy. Conclusions Patients with lingual thyroid frequently exhibit subclinical hypothyroidism. Hormone treatment may help to reduce the size of the ectopic thyroid and improve symptoms. If an increase in size is noted during follow-up or symptoms do not improve, surgical treatments may be considered.

March 7, 2024

Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus

Raiz Ahmad Misgar, Ankit Chhabra, Ajaz Qadir, Sidharth Arora, Arshad Iqbal Wani, Mir Iftikhar Bashir, Shariq Rashid Masoodi

Page range: 477-481

Abstract

Objectives The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95 % of cases. The roundabout receptor-1 gene ( ROBO1 ) plays critical roles in axonal guidance and cell migration. Recently, mutations in the ROBO1 gene have been reported patients with PSIS. Case presentation We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency, central diabetes insipidus, and the classical triad of MRI findings. Through clinical exome sequencing using next-generation sequencing techniques, a previously unidentified novel heterozygous frame shift mutation in the ROBO1 gene was identified. This is the first report of ROBO1 mutation associated with posterior pituitary dysfunction. Conclusions We conclude and emphasize that ROBO1 should be investigated in patients with PSIS. Our case is unique in the published literature in that we are first time reporting posterior pituitary dysfunction as manifestation of ROBO1 mutation. The full clinical spectrum of the mutations may not be fully known.

Open Access April 15, 2024

A 14-year-old girl with premature ovarian insufficiency but with a positive pregnancy test

Robbert N.H. Touwslager, C. Michel Zwaan, Boudewijn Bakker, Eef G.W.M. Lentjes, Leendert H.J. Looijenga, Hanneke M. van Santen

Page range: 482-485

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Abstract

Objectives Childhood cancer survivors are at risk for premature ovarian insufficiency, especially after treatment with alkylating agents. The objective of this report is to highlight a case in which this phenomenon caused a false-positive pregnancy test. Case presentation A workup was performed in a 14-year-old girl with a positive pregnancy test. She was diagnosed with stage IV neuroblastoma of the left adrenal gland at the age of 4 years. She received extensive treatment, including alkylating agents, and had been diagnosed with premature ovarian insufficiency. An LH/hCG suppression test was performed using high dose 17 bèta-estradiol: hCG levels normalized. Conclusions The pregnancy test was false-positive due to production of low amounts of hCG by the pituitary gland as a result of high LH concentrations following premature ovarian insufficiency. It may be helpful to perform the LH/hCG suppression test to prove pituitary origin of the hCG overproduction.

(Deutsch)

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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