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Children
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Endocrine Diseases in Pediatrics: Diagnosis and Treatment
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Endocrine Diseases in Pediatrics: Diagnosis and Treatment

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Endocrinology".

Deadline for manuscript submissions: 5 June 2024 | Viewed by 7881

Special Issue Editors

Dr. Marco Fiore

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Guest Editor
Institute of Biochemistry and Cell Biology (IBBC), National Research Council (CNR), Department of Sense Organs, University Sapienza of Rome, Viale del Policlinico, 155 Rome, Italy
Interests: neurobiology; endocrinology; neurotrophins; oxidative stress; cancer; toxicology; addiction; antioxidants; polyphenols; alcohol use disorders
Special Issues, Collections and Topics in MDPI journals
Dr. Carla Petrella

E-Mail Website
Guest Editor
Institute of Biochemistry and Cell Biology (IBBC), National Research Council (CNR), Department of Sense Organs, University Sapienza of Rome, Viale del Policlinico, 155 Rome, Italy
Interests: gut – brain axis; pediatric rare disease; neurophins: BDNF; NGF; anitoxidant and antiinflammatory natural compounds: probiotics and Polyphenols
Special Issues, Collections and Topics in MDPI journals
Dr. Luigi Tarani

E-Mail Website
Guest Editor
Pediatric Department, “Sapienza” University of Rome, 00185 Rome, Italy
Interests: neurodevelopmental disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Endocrine glands are essential for the regulation of intrauterine homeostasis, the appropriate maturation and differentiation of fetal organs, and correct growth during postnatal life. Indeed, hormones have complex functions and they play subtle roles in regulating the development of the cardiovascular, endocrine, digestive, muscle-skeletal, and nervous systems. Furthermore, abnormal functioning of the endocrine glands during the pediatric age may lead to disrupted development and abnormal growth. Indeed, during a child’s development, from birth to adolescence, genetic, epigenetic, and environmental factors can influence the correct functioning of the endocrine system. These stressful factors can determine the onset of problems related to the homeostasis of the organism. The recent scientific literature on newborns, children, and adolescents has disclosed anomalous clinical outcomes that evidence several dysfunctions of the endocrine glands. However, the benefits of hormone replacement therapy or other treatments remain controversial.

Dr. Marco Fiore
Dr. Carla Petrella
Dr. Luigi Tarani
Guest Editors

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. Children is an international peer-reviewed open access monthly 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 2400 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

  • endocrine glands
  • pediatrics
  • disease
  • hormones
  • early disease development
  • therapy and treatment
  • adolescents
  • children
  • newborns
  • fetus

Published Papers (6 papers)

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Research

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10 pages, 5309 KiB  
Communication
Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives
by Tung-Hee Tie, Wei-Han Lin, Ming-Tung Huang, Po-Ting Wu, Meng-Che Tsai, Yen-Yin Chou, Chih-Kai Hong, Chii-Jeng Lin and Chien-An Shih
Children 2024, 11(4), 487; https://doi.org/10.3390/children11040487 - 18 Apr 2024
Viewed by 273
Abstract
This case report sheds light on the management of skeletal deformity in a young child with X-linked hypophosphatemia (XLH), emphasizing the significance of a timely orthotic intervention alongside pharmacological treatment, which is a strategy not frequently highlighted in the XLH literature. The patient, [...] Read more.
This case report sheds light on the management of skeletal deformity in a young child with X-linked hypophosphatemia (XLH), emphasizing the significance of a timely orthotic intervention alongside pharmacological treatment, which is a strategy not frequently highlighted in the XLH literature. The patient, a 2-year-and-7-month-old female, presented with classic XLH symptoms, including short stature, pronounced genu varum, and hypophosphatemia, with deformities observed in both the coronal and sagittal planes of the femur and tibia. Despite initial reliance on pharmacotherapy, which proved insufficient for skeletal realignment, the integration of orthotic treatment at age 3 marked a pivotal turn in the management strategy. By the age of 5 years and 9 months, this combined approach yielded significant improvements: the deformities in the femur and tibia were notably corrected, tibial torsion was addressed, and enhanced limb alignment was achieved, as corroborated by radiographic evidence. This case underscores the effectiveness of orthotic intervention as a critical and underemphasized adjunct to pharmacological therapy in managing XLH in early childhood. It advocates for the early inclusion of orthotic measures to optimize treatment outcomes and expand the range of management strategies for limb deformities. Full article
(This article belongs to the Special Issue Endocrine Diseases in Pediatrics: Diagnosis and Treatment)
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11 pages, 1494 KiB  
Article
Thyroid Disorders Spectrum in Pediatric Endocrine Clinic; Seven-Year Experience of a Teaching Hospital in Saudi Arabia
by Mohammad H. Al-Qahtani, Sufian A. ElYahia, Abdulaziz S. AlQahtani, Abdulrahman J. AlQahtani, Abdulaziz A. Alamer, Sultan M. AlQahtani, Abdullah A. Yousef, Waleed H. Albuali, Bassam H. Awary, Ala’a A. Aldajani and Mohammed A. Al Ghamdi
Children 2023, 10(2), 390; https://doi.org/10.3390/children10020390 - 16 Feb 2023
Cited by 1 | Viewed by 3079
Abstract
Thyroid disorders constitute one of the major endocrine disorders in pediatric service. It includes a range of congenital versus acquired anatomic and/or functional thyroid diseases in growing children that has a spectrum of severity from severe intellectual disability effect to subclinical mild pathologies. [...] Read more.
Thyroid disorders constitute one of the major endocrine disorders in pediatric service. It includes a range of congenital versus acquired anatomic and/or functional thyroid diseases in growing children that has a spectrum of severity from severe intellectual disability effect to subclinical mild pathologies. This study was designed to analyze the demographic characteristics, clinical pattern, and severity of thyroid disorders in the pediatric endocrine clinic patients at the teaching hospital of the university over a 7-year duration. A total number of 148 patients with thyroid disorders were seen in pediatric Endocrine clinic during the time between January 2015 and December 2021. Female patients constitute 64% of them. Acquired Hypothyroidism was the commonest disorder; 34% of the cases followed by the congenital hypothyroidism (CH), then Hashimoto’s thyroiditis, and 5.8% for others. While a very small percentage was acquired hyperthyroidism. The majority of referrals were from dermatology and other service for the screening of thyroid disease as association with other autoimmune diseases with percentage of 28.3%. Next was neck swelling manifestation in 22.6%. Thyroid disorders in children, both congenital and acquired, constitute an important medical issue for pediatricians to be aware of its variable presentations, and its potential serious health consequences on the affected children if not diagnosed and treated earlier. Acquired hypothyroidism constitutes more percentage of the thyroid disorders followed in the pediatric endocrinology outpatient clinics. Congenital hypothyroidism is the second most common thyroid disorder in the outpatient unit, having the most potential complications. These results support the international studies with the female predominance in most of thyroid disorders. Full article
(This article belongs to the Special Issue Endocrine Diseases in Pediatrics: Diagnosis and Treatment)
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9 pages, 1073 KiB  
Article
Evolution of Subclinical Hypothyroidism Diagnosed in the First 3 Months of Life in Newborns Living in North Italy: A Retrospective Cohort Study
by Valentina Mancioppi, Valentina Antoniotti, Arianna Solito, Elisabetta Mingoia, Alice Monzani, Giulia Genoni, Ivana Rabbone, Flavia Prodam and Simonetta Bellone
Children 2023, 10(1), 118; https://doi.org/10.3390/children10010118 - 06 Jan 2023
Viewed by 1640
Abstract
Background: Subclinical hypothyroidism (SH) management in neonatal age opens important questions. We aimed to describe the evolution over time of subclinical hypothyroidism diagnosed in the first three months of life in a population of full-term neonates. Methods: A single-center longitudinal retrospective cohort study [...] Read more.
Background: Subclinical hypothyroidism (SH) management in neonatal age opens important questions. We aimed to describe the evolution over time of subclinical hypothyroidism diagnosed in the first three months of life in a population of full-term neonates. Methods: A single-center longitudinal retrospective cohort study in a tertiary care center was conducted. We recruited 32 subjects with SH diagnosed within the first three months of life. We collected clinical, biochemical, and ultrasound data for every subject at the first examination and every six months until four years of age. Results: A total of 43.8% of subjects showed stimulating thyroid hormone (TSH) levels over the limit of 10 mUI/L and underwent treatment (Group 1). Eleven subjects started therapy at the first visit, while three subjects started it after a period of observation; 15.6% (Group 2A) showed a trend of TSH decrease and were finally discharged from the follow-up, while 40.6% (Group 2B) showed a TSH level slightly increased, changeless over time. Conclusions: We demonstrated that more than half of newborns with hyperthyrotropinemia did not require substitutive therapy showing a positive trend toward normalization or a remaining slight increase compared to normal levels. Moreover, our study suggests the need for a follow-up over time to check the TSH levels course. Full article
(This article belongs to the Special Issue Endocrine Diseases in Pediatrics: Diagnosis and Treatment)
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Review

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14 pages, 490 KiB  
Review
Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children—A Literature Review and Case Report
by Fabiola Panvino, Roberto Paparella, Luisiana Gambuti, Andrea Cerrito, Michela Menghi, Ginevra Micangeli, Carla Petrella, Marco Fiore, Luigi Tarani and Ignazio Ardizzone
Children 2024, 11(5), 509; https://doi.org/10.3390/children11050509 - 24 Apr 2024
Abstract
Klinefelter syndrome (KS), characterized by an additional X-chromosome in males, manifests in a wide range of neuroendocrine and psychiatric symptoms. Individuals with KS often face increased risks of hormonal dysfunction, leading to depression and anxiety, although extended research during pediatric and adolescent age [...] Read more.
Klinefelter syndrome (KS), characterized by an additional X-chromosome in males, manifests in a wide range of neuroendocrine and psychiatric symptoms. Individuals with KS often face increased risks of hormonal dysfunction, leading to depression and anxiety, although extended research during pediatric and adolescent age is still limited. This critical phase, decisive for KS children, is influenced by a combination of genetic, environmental and familial factors, which impact brain plasticity. In this report, we reviewed, in a narrative form, the crucial KS psychopathological hallmarks in children. To better describe neuroendocrine and neuropsychiatric outcomes in children with KS, we presented the case of an 11-year-old prepubertal child with mosaic KS who was referred to our Center of Developmental Psychopathology due to a decline in his academic performance, excessive daytime fatigue and increased distractibility over the past few months. Family history revealed psychiatric conditions among first- and second-degree relatives, including recently divorced parents and a 15-year-old sister. Early-onset persistent depressive disorder and anxious traits were diagnosed. Timely identification of susceptible children, with thorough examination of familial psychiatric history, environmental influences and neurocognitive profile, alongside targeted interventions, could potentially mitigate lifelong psychopathology-related disabilities in pediatric and adolescent KS cases, including those with mosaic KS. Full article
(This article belongs to the Special Issue Endocrine Diseases in Pediatrics: Diagnosis and Treatment)
14 pages, 909 KiB  
Review
Prenatal Alcohol Exposure and Metabolic Disorders in Pediatrics: The Role of the Oxidative Stress—A Review of the Literature
by Martina Derme, Martina Briante, Mauro Ceccanti, Giuseppe Giannini, Mario Vitali, Marisa Patrizia Messina, Maria Grazia Piccioni, Alessandro Mattia, Simona Nicotera and Alba Crognale
Children 2024, 11(3), 269; https://doi.org/10.3390/children11030269 - 21 Feb 2024
Viewed by 984
Abstract
Prenatal alcohol exposure is responsible for increasing chronic disease risk in later life, including obesity and metabolic syndrome. Alcohol drinking may compromise endogenous antioxidant capacity, causing an increase in free radicals and reactive oxygen species in the newborn. Excessive reactive oxygen species could [...] Read more.
Prenatal alcohol exposure is responsible for increasing chronic disease risk in later life, including obesity and metabolic syndrome. Alcohol drinking may compromise endogenous antioxidant capacity, causing an increase in free radicals and reactive oxygen species in the newborn. Excessive reactive oxygen species could attack the cellular proteins, lipids, and nucleic acids, leading to cellular dysfunction. Moreover, oxidative stress could play a crucial role in the altered synthesis and release of neurotrophins and progressive mitochondrial modifications with uncontrolled apoptosis. This narrative review aims to underline the important role of alcohol abuse in oxidative stress events and consequent metabolic and neurocognitive impairments in children exposed to alcohol during gestational life. Full article
(This article belongs to the Special Issue Endocrine Diseases in Pediatrics: Diagnosis and Treatment)
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Other

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13 pages, 6231 KiB  
Case Report
Ultrasound–Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview
by Dominika Januś, Monika Kujdowicz, Konrad Kaleta, Kamil Możdżeń, Jan Radliński, Anna Taczanowska-Niemczuk, Aleksandra Kiszka-Wiłkojć, Marcin Maślanka, Wojciech Górecki and Jerzy B. Starzyk
Children 2024, 11(4), 403; https://doi.org/10.3390/children11040403 - 28 Mar 2024
Viewed by 556
Abstract
Background: DICER1, a cancer predisposition syndrome (CPS), seems to escape timely diagnosis in pediatric patients. Case report 1: A 16-year-old female patient was referred to the endocrinology ward due to a large goiter. Her medical history indicated normal sexual maturation, with menarche occurring [...] Read more.
Background: DICER1, a cancer predisposition syndrome (CPS), seems to escape timely diagnosis in pediatric patients. Case report 1: A 16-year-old female patient was referred to the endocrinology ward due to a large goiter. Her medical history indicated normal sexual maturation, with menarche occurring at 13.5 years. Over the past 2.5 years, she had developed pronounced androgenic symptoms, including a deepened male voice; facial, back, and neckline acne; hirsutism; and menstrual irregularities leading to secondary amenorrhea. A thyroid ultrasound identified a multinodular goiter (MNG) with cystic–solid lesions containing calcifications. An abdominal ultrasound identified a 5.7 × 6.9 cm solid mass in the right adnexal region, displacing the uterus to the left. Histopathological examination confirmed a Sertoli–Leydig cell tumor. The patient was subjected to a total thyroidectomy. Histopathology revealed benign follicular cell-derived neoplasms. Thyroid follicular nodular disease (TFND) was diagnosed bilaterally. DNA analysis using NGS, confirmed via the Sanger method, revealed a pathogenic heterozygotic variant c.2953C>T [p.Gln985*] in exon 18 of the DICER1 gene. Case report 2: A 12-year-old male patient was admitted to the pediatric surgery unit due to a 33 mL goiter. A month prior to his admission, the patient discovered a palpable nodule in his neck, accompanied by hoarseness. An ultrasound revealed MNG. Molecular analysis revealed a pathogenic heterozygotic variant c.2782C>T [p.Gln928*] in exon 17 of the DICER1 gene. Subsequently, a total thyroidectomy was performed, and histopathological examination revealed TFND bilaterally. Conclusions: Recent advances in genetic evaluation and in histological approaches indicate that MNG/TFND, although rare in the pediatric population, when accompanied by characteristic ultrasound and histopathological features, and by additional features such as androgenization, may warrant assessment also of the DICER1 gene within CPS molecular panel screening. Full article
(This article belongs to the Special Issue Endocrine Diseases in Pediatrics: Diagnosis and Treatment)
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