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Research Progress in 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 November 2025 | Viewed by 590

Special Issue Editor


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Guest Editor
Department Hospital of Woman and Child, Pediatric Unit, IRCCS AOU di Bologna Policlinico di S.Orsola, 40138 Bologna, Italy
Interests: pediatric thyroid disease; pediatric rickets; adrenal insufficiency in children; diabetes in children; pediatric endocrinology
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Special Issue Information

Dear Colleagues,

Pediatric endocrinology has seen remarkable progress in recent years. New therapies for bone disorders like achondroplasia and XLH, along with the increased use of NGS panels, have enhanced genetic diagnosis for conditions such as short stature, severe obesity, precocious puberty, and congenital hypothyroidism.

However, challenges persist in managing rare endocrine disorders like primary adrenal insufficiency, congenital adrenal hyperplasia (CAH), and certain DSDs. International networks and registries play a crucial role in improving real-world management. Meanwhile, newborn screening and prenatal therapy for CAH remain under debate due to the absence of standardized protocols.

Severe early-onset obesity remains difficult to treat, but the recent introduction of GLP-1 receptor agonists offers new therapeutic potential, though their real-world effectiveness in children is still under evaluation.

Future research must also address:

  • Precision medicine for personalized treatments.
  • Long-term safety of emerging therapies.
  • The gut microbiome’s impact on endocrine health.
  • AI applications in diagnosis and treatment.
  • Endocrine disruptors affecting development.
  • Psychosocial impacts of endocrine disorders.
  • Global healthcare disparities in access to treatment.

This Special Issue aims to explore these critical challenges, fostering scientific discussion to improve patient outcomes.

Dr. Federico Baronio
Guest Editor

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Keywords

  • pediatric endocrinology
  • rare endocrine disorders
  • precision medicine
  • congenital adrenal hyperplasia (CAH)
  • short stature genetics
  • severe childhood obesity
  • glp-1 receptor agonists
  • endocrine disruptors
  • artificial intelligence (AI) in endocrinology
  • newborn screening

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Published Papers (1 paper)

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Research

10 pages, 345 KiB  
Article
Natural History of Hyperphagia in Patients with Pseudohypoparathyroidism
by Jaclyn Tamaroff and Ashley H. Shoemaker
J. Clin. Med. 2025, 14(15), 5345; https://doi.org/10.3390/jcm14155345 - 29 Jul 2025
Viewed by 320
Abstract
Background/Objectives: Pseudohypoparathyroidism (PHP) is a group of genetic disorders characterized by end-organ resistance to multiple hormones, short stature, brachydactyly, subcutaneous ossifications, obesity, and developmental delays. The tissue specific imprinting of GNAS in the hypothalamus may lead to different eating behavior phenotypes in [...] Read more.
Background/Objectives: Pseudohypoparathyroidism (PHP) is a group of genetic disorders characterized by end-organ resistance to multiple hormones, short stature, brachydactyly, subcutaneous ossifications, obesity, and developmental delays. The tissue specific imprinting of GNAS in the hypothalamus may lead to different eating behavior phenotypes in maternally inherited (PHP1A, PHP1B) vs. paternally inherited (PPHP) variants. In this exploratory study, we aimed to evaluate differences in eating behaviors in a cohort of patients with PHP1A, PPHP and PHP1B. Methods: Assessments included caregiver-reported measures (hyperphagia questionnaire, children’s eating behavior questionnaire, child feeding questionnaire) and self-reported measures (three factor eating behavior questionnaire). Results: A total of 58 patients with PHP1A, 13 patients with PPHP and 10 patients with PHP1B contributed data, along with 124 obese pediatric controls. An increased risk of obesity was found in PHP1A vs. PPHP (adult body mass index (BMI) 39.8 ± 8.7 vs. 30.2 ± 7.4 kg/m2, p = 0.03). Parents reported significantly earlier onset of interest in food in children with PHP1A (2.0 ± 2.3 years) and PHP1B (1.1 ± 1.3 years) compared with controls (5.2 ± 3.2 years, p < 0.001). Measures of hyperphagia, satiety and other feeding behaviors were all similar to controls. The highest hyperphagia questionnaire scores were seen prior to adolescence. In a multi-year, longitudinal assessment of 11 pediatric patients with PHP1A, hyperphagia scores were stable and 25% showed an improvement in symptoms. Conclusion: Patients with PHP1A/1B may have hyperphagia symptoms from a young age but they do not worsen over time. Patients may overeat when allowed access to food, but do not usually have disruptive food seeking behaviors. Early diagnosis can give clinicians the opportunity to provide anticipatory diagnosis on the increased risk of obesity in PHP1A/1B and need for scheduled meals and controlled portions. Further studies with larger cohorts are needed to confirm these findings. Full article
(This article belongs to the Special Issue Research Progress in Pediatric Endocrinology)
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