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Endocrine Disorders in Children
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Endocrine Disorders in Children

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Pediatrics".

Deadline for manuscript submissions: 25 June 2025 | Viewed by 7905

Special Issue Editor

Dr. Juan Pedro López-Siguero

E-Mail Website
Guest Editor
Department of Pharmacology and Pediatrics, University of Malaga, 29016 Malaga, Spain
Interests: diabetes mellitus; insulin; diabetes; metabolic syndrome; childhood obesity; growth disorders; pediatric endocrinology; thyroid; prenatal diagnosis; nutritional education
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue aims to explore problems related to growth, pubertal development, thyroid, parathyroid, metabolic disorders such as diabetes or hypoglycemia, adrenal glands, sexual development, nutrition, obesity, dysmorphic syndromes, malformations and other problems related to genetic hormones.

The different pediatric “ages”, such as prenatal, neonatal, childhood, prepuberty, and adolescence, present different hormonal configurations and constitute a difficulty for the diagnosis and management of many endocrinological disorders; therefore, obtaining data and developing publications on these populations are of the utmost importance and interest.

These disorders are precursors of many adult diseases with a strong genetic and epigenetic basis. The important methodological development in the study of diseases of genetic origin will improve the diagnosis and treatment of some entities, of unknown origin today, and this will occur more frequently in the pediatric population in many areas of endocrinology at this age, especially with prenatal diagnosis.

Dr. Juan Pedro López-Siguero
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • endocrinology
  • pediatrics
  • hormones
  • genetics
  • growth
  • nutrition
  • development
  • adolescence
  • prevention

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Published Papers (5 papers)

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Research

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10 pages, 487 KiB  
Article
Pediatric Type 1 Diabetes: Is Age at Onset a Determining Factor in Advanced Hybrid Closed-Loop Insulin Therapy?
by Alfonso Lendínez-Jurado, Juan Pedro López-Siguero, Ana Gómez-Perea, Ana B. Ariza-Jiménez, Icía Becerra-Paz, Leopoldo Tapia-Ceballos, Carmen Cruces-Ponce, José Manuel Jiménez-Hinojosa, Sonsoles Morcillo and Isabel Leiva-Gea
J. Clin. Med. 2023, 12(21), 6951; https://doi.org/10.3390/jcm12216951 - 6 Nov 2023
Viewed by 1560
Abstract
Background: The integration of continuous glucose monitoring systems with insulin infusion pumps has shown improved glycemic control, with improvements in hyperglycemia, hypoglycemia, Hb1Ac, and greater autonomy in daily life. These have been most studied in adults and there are currently not many articles [...] Read more.
Background: The integration of continuous glucose monitoring systems with insulin infusion pumps has shown improved glycemic control, with improvements in hyperglycemia, hypoglycemia, Hb1Ac, and greater autonomy in daily life. These have been most studied in adults and there are currently not many articles published in the pediatric population that establish their correlation with age of debut. Methods: Prospective, single-study. A total of 28 patients (mean age 12 ± 2.43 years, 57% male, duration of diabetes 7.84 ± 2.46 years) were included and divided into two groups according to age at T1D onset (≤4 years and >4 years). Follow-up for 3 months, with glucometric variables extracted at different cut-off points after the start of the closed-loop (baseline, 1 month, 3 months). Results: Significant improvement was evidenced at 1 month and 3 months after closed-loop system implantation, with better glycemic control in the older age group at baseline at TIR (74.06% ± 6.37% vs. 80.33% ± 7.49% at 1 month, p < 0.003; 71.87% ± 6.58% vs. 78.75% ± 5.94% at 3 months, p < 0.009), TAR1 (18.25% ± 4.54% vs. 14.33% ± 5.74% at 1 month, p < 0.006; 19.87% ± 5.15% vs. 14.67% ± 4. 36% at 3 months, p < 0.009) and TAR2 (4.75% ± 2.67% vs. 2.75% ± 1.96% at 1 month, p = 0.0307; 5.40% ± 2.85% vs. 3% ± 2.45% at 3 months, p < 0.027). Conclusions: the use of automated systems such as the MiniMedTM780G system brings glucometric results closer to those recommended by consensus, especially in age at T1D onset >4 years. However, the management in pediatrics continues to be a challenge even after the implementation of these systems, especially in terms of hyperglycemia and glycemic variability. Full article
(This article belongs to the Special Issue Endocrine Disorders in Children)
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21 pages, 1689 KiB  
Article
Assessment of Biochemical Parameters in 8- and 9-Year-Old Children with Excessive Body Weight Participating in a Year-Long Intervention Program
by Dominika Raducha, Joanna Ratajczak, Ewa Kostrzeba, Ewa Berus, Mieczysław Walczak and Elżbieta Petriczko
J. Clin. Med. 2023, 12(20), 6560; https://doi.org/10.3390/jcm12206560 - 16 Oct 2023
Cited by 2 | Viewed by 1790
Abstract
Childhood obesity represents a significant challenge both clinically and socio-economically. This study aimed to assess specific biochemical parameters, particularly glucose, insulin and lipid profile, before and after a year-long intervention program in 8- and 9-year-old children with excessive body weight living in Szczecin, [...] Read more.
Childhood obesity represents a significant challenge both clinically and socio-economically. This study aimed to assess specific biochemical parameters, particularly glucose, insulin and lipid profile, before and after a year-long intervention program in 8- and 9-year-old children with excessive body weight living in Szczecin, Poland from 2016 to 2018. The research comprised two phases: screening in elementary schools and intervention in the outpatient clinic of the clinical Pomeranian Medical University hospital. Out of 11,494 8- to 9-year-olds in Szczecin, 42.54% (4890) participated in the screening. In the intervention phase, 515 children were examined. Anthropometric measurements were recorded at each visit, and blood samples were collected during the first and fourth visits. In the statistical analysis, the Kolmogorov–Smirnov, t-Student and ANOVA tests were employed (with statistical significance when p ≤ 0.05). Results highlighted a significant proportion of children exhibiting disruptions in carbohydrate and lipid metabolism. A total of 8.6% of participants had elevated total cholesterol, 9.7% had reduced HDL, 13.4% had elevated LDL, and 21.2% had elevated triglycerides. Initially, abnormal fasting glucose was detected in 4.7% of children, and elevated insulin levels in 3.1%. Metabolic disorders persisted post-intervention despite BMI improvement. The results emphasize the necessity for prolonged programs with frequent follow-ups targeting weight normalization in children. Full article
(This article belongs to the Special Issue Endocrine Disorders in Children)
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Review

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30 pages, 1832 KiB  
Review
Unveiling the Role of Selenium in Child Development: Impacts on Growth, Neurodevelopment and Immunity
by Gulnara Batyrova, Gulaim Taskozhina, Gulmira Umarova, Yeskendir Umarov, Marina Morenko, Bakhtiyar Iriskulov, Khatimya Kudabayeva and Yerlan Bazargaliyev
J. Clin. Med. 2025, 14(4), 1274; https://doi.org/10.3390/jcm14041274 - 14 Feb 2025
Viewed by 829
Abstract
Selenium (Se) is a vital trace element for children, playing a crucial role in numerous physiological processes, including antioxidant defense, immune regulation, thyroid function, and bone metabolism. Emerging evidence highlights its potential impact on child development and growth while also underscoring the complexity [...] Read more.
Selenium (Se) is a vital trace element for children, playing a crucial role in numerous physiological processes, including antioxidant defense, immune regulation, thyroid function, and bone metabolism. Emerging evidence highlights its potential impact on child development and growth while also underscoring the complexity of its mechanisms and the global variations in Se intake. The aim of this review is to comprehensively elucidate the significance of Se in various biological processes within the human body, with a focus on its role in child development and growth; its biochemical effects on the nervous system, thyroid function, immune system, and bone tissue; and the implications of Se deficiency and toxicity. This review integrates findings from experimental models, epidemiological studies, and clinical trials to explore Se’s role in neurodevelopment, growth regulation, and immune competence in children. Selenoproteins, which regulate oxidative stress and thyroid hormone and bone metabolism, are essential for normal growth and cognitive development in children. Se deficiency and toxicity has been linked to impaired immune function, growth retardation, and decreased immune function. The findings underscore Se’s influence on various biological pathways that are critical for healthy child development and its broader importance for child health. Public health strategies aimed at optimizing selenium intake may play a pivotal role in improving pediatric health outcomes worldwide. Full article
(This article belongs to the Special Issue Endocrine Disorders in Children)
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15 pages, 4779 KiB  
Review
Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1—A Case Study and Literature Review
by Giorgiana-Flavia Brad, Delia-Maria Nicoară, Alexandra-Cristina Scutca, Meda-Ada Bugi, Raluca Asproniu, Laura-Gratiela Olariu, Iulius Jugănaru, Lucian-Ioan Cristun and Otilia Mărginean
J. Clin. Med. 2024, 13(8), 2368; https://doi.org/10.3390/jcm13082368 - 18 Apr 2024
Cited by 2 | Viewed by 1941
Abstract
Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is necessary to determine its underlying cause, whether it presents acutely or chronically, and to tailor treatment based on its severity. Among [...] Read more.
Hypocalcemia is a common occurrence in pediatric patients, attributed to various causes and presenting with diverse clinical manifestations. A prompt evaluation is necessary to determine its underlying cause, whether it presents acutely or chronically, and to tailor treatment based on its severity. Among the potential causes of chronic hypocalcemia, primary hypoparathyroidism stands out. The case of a seven-year-old male patient with hypocalcemia reported in this article serves as an illustration, wherein targeted next-generation sequencing revealed a homozygous p.R257X mutation in the AIRE gene, indicative of autoimmune polyendocrine syndrome type 1 (APS-1). It poses challenges due to its multisystemic nature and involvement of specific autoantibodies, often leading to underdiagnosis, owing to its rarity, varied manifestations, and incomplete penetrance. A comprehensive review of the APS-1 literature was conducted to provide insights into the clinical manifestations, genetic spectrum, potential immunological mechanisms, and current medical strategies. Additionally, the recognition of AIRE gene mutations is crucial for facilitating genetic diagnosis, prognosis, and potential treatment strategies for APS-1. The management of such cases involves individualized approaches to treatment, regular monitoring, medication adjustments, and the early identification of associated conditions. Full article
(This article belongs to the Special Issue Endocrine Disorders in Children)
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Other

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15 pages, 1576 KiB  
Case Report
Kenny–Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization
by Kyriaki Hatziagapiou, Amalia Sertedaki, Vasiliki Dermentzoglou, Nataša Čurović Popović, George I. Lambrou, Louis Papageorgiou, Trias Thireou, Christina Kanaka-Gantenbein and Sophia D. Sakka
J. Clin. Med. 2025, 14(1), 118; https://doi.org/10.3390/jcm14010118 - 28 Dec 2024
Viewed by 1013
Abstract
Background/Objectives: Kenny–Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the FAM111A gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. Methods: [...] Read more.
Background/Objectives: Kenny–Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the FAM111A gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. Methods: The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. Results: The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years. Biochemical evaluation at several ages revealed persistent hypocalcemia, high normal phosphorous, and inappropriately low normal PTH. To exclude other causes of short stature, the diagnostic approach revealed low levels of IGF-1, and on CNS MRI, small pituitary gland and empty sella. Nocturnal levels of growth hormone were normal. MRI also revealed bilateral symmetrical microphthalmia and torturous optic nerves. Skeletal survey was compatible with cortical thickening and medullary stenosis of the long bones. Genomic data analysis revealed a well-known pathogenic variant of the FAM111A gene (c.1706G>A, p. R569H), which is linked with KCS2 or nanophthalmos. Conclusions: KCS2, although a rare disease, should be included in the differential diagnosis of hypoparathyroidism and short stature. Understanding the association of pathogenic variants with KCS2 phenotypic variability will allow the advancement of clinical genetics and personalized long-term follow-up and will offer insights into the role of the FAM111A gene in the disease pathogenesis and normal embryogenesis of implicated tissues and organs. Full article
(This article belongs to the Special Issue Endocrine Disorders in Children)
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