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Children
Special Issues
Clinical Insights into Pediatric Endocrine Disease
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Clinical Insights into Pediatric Endocrine Disease

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

Deadline for manuscript submissions: closed (10 September 2025) | Viewed by 749

Special Issue Editors

Dr. Andreea Bena

E-Mail Website
Guest Editor
Discipline of Endocrinology, Second Department of Internal Medicine, “Victor Babeș” University of Medicine and Pharmacy, 300041 Timisoara, Romania
Interests: thyroid; endocrinology
Prof. Dr. Dana Stoian

E-Mail Website
Guest Editor
Department of Endocrinology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
Interests: elastography; viscosity; contrast-enhanced ultrasound; multiparametric evaluation; thyroid disease; renal disease; liver fibrosis; hyperparathyroidism; endocrinology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pediatric endocrine diseases encompass a broad spectrum of conditions that impact growth, metabolism, and hormonal regulation from infancy through adolescence. Recent advancements in diagnostic imaging, molecular genetics, and novel therapeutic approaches have significantly improved our ability to detect and manage these disorders at earlier stages, leading to better patient outcomes. Despite these developments, challenges remain in optimizing individualized treatment strategies, understanding the long-term effects of pediatric endocrine disorders, and addressing the impact of hormonal imbalances on overall health and development.

This Special Issue will explore the latest clinical insights into pediatric endocrine diseases, emphasizing innovations in diagnosis, treatment, and patient care. Topics of interest include, but are not limited to, congenital and acquired endocrine disorders, growth- and puberty-related abnormalities, metabolic syndromes, thyroid disorders, and the role of emerging technologies in endocrine evaluation. We welcome original research articles, comprehensive reviews, and case reports that contribute to the evolving landscape of pediatric endocrinology.

I look forward to receiving your valuable contributions to this Special Issue.

Dr. Andreea Bena
Prof. Dr. Dana Stoian
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 250 words) can be sent to the Editorial Office for assessment.

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

  • pediatric hormonal disorders
  • thyroid dysfunction
  • growth and puberty abnormalities

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Published Papers (1 paper)

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7 pages, 191 KB  
Case Report
Delayed Diagnosis of X-Linked Adrenal Hypoplasia Congenita in a Boy with a Novel NR0B1 Variant: A Case Report
by Shin-Hee Kim and Kyoung Soon Cho
Children 2025, 12(11), 1469; https://doi.org/10.3390/children12111469 - 31 Oct 2025
Viewed by 371
Abstract
NR0B1 (DAX-1) is an orphan nuclear receptor essential for the development and regulation of the adrenal glands and gonads. Pathogenic variants in NR0B1 cause X-linked adrenal hypoplasia congenita (AHC), which typically presents with adrenal insufficiency and hypogonadotropic hypogonadism (HH) in boys. Delayed diagnosis [...] Read more.
NR0B1 (DAX-1) is an orphan nuclear receptor essential for the development and regulation of the adrenal glands and gonads. Pathogenic variants in NR0B1 cause X-linked adrenal hypoplasia congenita (AHC), which typically presents with adrenal insufficiency and hypogonadotropic hypogonadism (HH) in boys. Delayed diagnosis during adolescence is uncommon but, when it occurs, can lead to preventable adrenal crisis, underscoring the need for early recognition of atypical presentations. We describe a 14-year-old boy who presented with adrenal insufficiency and delayed puberty. Genetic testing revealed a novel hemizygous in-frame duplication variant of NR0B1 (NM_000475.4:c.833_835dup p.(Leu278dup)). This variant has not been previously reported in association with X-linked AHC. The patient received hydrocortisone (10–12 mg/m2/day) and fludrocortisone (0.1 mg/day) as replacement therapy for adrenal insufficiency, along with testosterone supplementation (100–240 mg/day) to induce pubertal progression. Plasma ACTH levels gradually decreased from 10,175 pg/mL at diagnosis to 215 pg/mL during follow-up, accompanied by clinical improvement in skin pigmentation and pubertal development. This case underscores the importance of NR0B1 genetic testing in children with adrenal insufficiency and HH. Early recognition and genetic confirmation are critical for appropriate management and genetic counseling. Identification of novel variants expands the NR0B1 mutational spectrum and enhances our understanding of genotype–phenotype correlations in X-linked AHC. Full article
(This article belongs to the Special Issue Clinical Insights into Pediatric Endocrine Disease)
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