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New Advances and Clinical Outcomes of Pediatric Endocrinology
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New Advances and Clinical Outcomes of Pediatric Endocrinology

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

Deadline for manuscript submissions: 20 August 2026 | Viewed by 3778

Special Issue Editor

Dr. Gerdi Tuli

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Guest Editor
1. Department of Pediatric Endocrinology, Regina Margherita Children’s Hospital, Città della Salute e della Scienza, 10126 Torino, Italy
2. Department of Public Health and Pediatric Sciences, University of Turin, 10126 Torino, Italy
Interests: thyroid; pediatric endocrinology; vitamin D

Special Issue Information

Dear Colleagues,

Recent developments in pediatric endocrinology have significantly advanced the diagnosis and management of endocrine disorders in children. Innovations in genetic testing and molecular diagnostics have enabled earlier and more accurate identification of conditions such as congenital hypothyroidism, growth hormone deficiency, and disorders of sex development. These tools have facilitated the implementation of individualized treatment strategies, improving both short- and long-term clinical outcomes.

Advancements in hormone replacement therapies and delivery systems have enhanced disease control and quality of life for patients with chronic endocrine disorders, including adrenal insufficiency and growth hormone deficiency. Additionally, targeted therapies are emerging as effective options for rare and complex conditions, such as genetic bone disorders.

The management of endocrine sequelae in childhood cancer survivors has underscored the importance of multidisciplinary care models. Collaboration among pediatric endocrinologists, oncologists, and mental health professionals is essential to address the late effects of cancer treatment and optimize long-term health.

Ongoing clinical research continues to inform evidence-based guidelines, fostering safer, more effective treatment approaches. Collectively, these advancements are contributing to improved growth trajectories, metabolic outcomes, and overall quality of life, reflecting a transformative era in pediatric endocrine care.

Dr. Gerdi Tuli
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 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. 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

  • congenital hypothyroidism
  • rare bone diseases
  • growth hormone deficiency
  • endocrine sequelae of cancer treatments
  • disorders of sex development
  • central diabetes insipidus
  • gender dysphoria

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Published Papers (2 papers)

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Research

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11 pages, 252 KB  
Article
Early Risk Stratification in Non-Classical Congenital Adrenal Hyperplasia Based on Newborn 17-OHP Screening Values, Hormonal Findings, and Genotype
by Jessica Munarin, Gerdi Tuli, Enza Pavanello and Luisa De Sanctis
J. Clin. Med. 2026, 15(7), 2631; https://doi.org/10.3390/jcm15072631 - 30 Mar 2026
Viewed by 524
Abstract
Background/Objectives: Non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency represents the mildest form of congenital adrenal hyperplasia and is frequently diagnosed only after the onset of clinical signs in childhood. Newborn screening programs for CAH are primarily designed to detect classical [...] Read more.
Background/Objectives: Non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency represents the mildest form of congenital adrenal hyperplasia and is frequently diagnosed only after the onset of clinical signs in childhood. Newborn screening programs for CAH are primarily designed to detect classical forms and show limited sensitivity for NCCAH. The clinical significance of neonatal 17-hydroxyprogesterone (17-OHP) values below recall thresholds remains incompletely defined. Methods: We retrospectively analyzed clinical, auxological, hormonal, and genetic data from pediatric patients diagnosed with NCCAH between 2018 and 2023 at a tertiary referral center. Neonatal screening 17-OHP concentrations, basal and ACTH-stimulated 17-OHP levels at diagnosis, bone age advancement, pubertal status, and hydrocortisone treatment were evaluated. Correlations between hormonal parameters, age at onset, and treatment dose were assessed. Results: Thirty-five patients (30 females) were included, with a mean age at clinical onset of 7.52 ± 0.36 years for females and 6.25 ± 0.29 years for males. Premature pubarche was the most frequent presenting sign (94.3%), and central precocious puberty was diagnosed in 31.4% of cases. The mean neonatal screening 17-OHP level was 4.53 ± 0.7 ng/mL; only two patients exceeded the screening recall cut-off. At diagnosis, mean basal and ACTH-stimulated 17-OHP levels were 15.1 ± 3.35 and 55.2 ± 11.3 ng/mL, respectively. Age at clinical onset was inversely correlated with both basal and stimulated 17-OHP levels, while hydrocortisone dose correlated positively with biochemical severity. Bone age advancement was observed in all patients. Conclusions: Most children with NCCAH display mildly elevated neonatal 17-OHP values that do not trigger screening recall. Higher biochemical severity is associated with earlier clinical presentation and higher glucocorticoid requirements. Neonatal 17-OHP concentrations, even when below cut-off values, may represent an early indicator of disease severity and warrant further investigation. Full article
(This article belongs to the Special Issue New Advances and Clinical Outcomes of Pediatric Endocrinology)

Other

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15 pages, 1259 KB  
Systematic Review
Comparative Efficacy and Safety of Once-Weekly Pegylated Recombinant Human Growth Hormone Versus Daily Growth Hormone Therapy in Children: A Systematic Review and Meta-Analysis
by Bassam Bin-Abbas and Mosleh Ali Jabari
J. Clin. Med. 2025, 14(24), 8740; https://doi.org/10.3390/jcm14248740 - 10 Dec 2025
Viewed by 1833
Abstract
Background: Childhood growth hormone deficiency (GHD) and idiopathic short stature (ISS) are endocrine disorders characterized by impaired linear growth due to insufficient or ineffective growth hormone (GH) activity. While daily recombinant human GH (rhGH) therapy effectively restores growth, treatment adherence remains suboptimal owing [...] Read more.
Background: Childhood growth hormone deficiency (GHD) and idiopathic short stature (ISS) are endocrine disorders characterized by impaired linear growth due to insufficient or ineffective growth hormone (GH) activity. While daily recombinant human GH (rhGH) therapy effectively restores growth, treatment adherence remains suboptimal owing to the burden of daily injections. Long-acting formulations such as pegylated recombinant human GH (PEG-rhGH) have been developed to improve convenience and compliance while maintaining therapeutic efficacy. This systematic review and meta-analysis aimed to evaluate the comparative effectiveness and safety of once-weekly PEG-rhGH versus daily rhGH and to assess dose–response outcomes between higher- and lower-dose PEG-rhGH regimens in pediatric GHD and ISS. Methods: This study followed PRISMA 2020 guidelines. Comprehensive searches were conducted in PubMed, Web of Science, and Scopus from inception to September 2025 using MeSH terms and free-text keywords for “PEGylated recombinant human growth hormone,” “long-acting growth hormone,” and “growth hormone deficiency.” Eligible studies included randomized controlled trials (RCTs) and cohort studies evaluating PEG-rhGH in children (≤18 years) with GHD or ISS, comparing either once-weekly PEG-rhGH with daily rhGH or different PEG-rhGH doses. Data extraction included study design, participant characteristics, intervention details, and key outcomes (height SDS, height velocity, IGF-1 SDS). Meta-analysis was conducted using Review Manager with a random-effects model, and heterogeneity was quantified using the I2 statistic. Results: Eight studies, comprising 2549 children, met the inclusion criteria. Once-weekly PEG-rhGH demonstrated comparable short-term growth outcomes to daily rhGH at 6 and 12 months, with modest but significant superiority in height SDS (MD = 0.10, 95% CI 0.01–0.19) and height velocity (MD = 0.74 cm/year, 95% CI 0.42–1.05) by 24 months. IGF-1 SDS did not differ significantly at 6 or 12 months. In dose comparisons, 0.2 mg/kg/week PEG-rhGH produced substantially greater gains in height SDS and IGF-1 SDS than 0.1 mg/kg/week, with a time-dependent increase in the magnitude of the effect. Safety analyses revealed no increase in adverse or serious adverse events with PEG-rhGH compared to daily rhGH; reactions were generally mild and transient. Conclusions: Once-weekly PEG-rhGH is as effective as daily rhGH for promoting growth in pediatric GHD and ISS, with possible long-term advantages in growth outcomes and similar safety. The higher PEG-rhGH dose (0.2 mg/kg/week) appears to optimize efficacy without compromising tolerability. Weekly administration may enhance adherence and quality of life, supporting PEG-rhGH as a viable alternative to daily GH therapy. Full article
(This article belongs to the Special Issue New Advances and Clinical Outcomes of Pediatric Endocrinology)
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