Novel Precision Medicine and Translational Based Approaches, Treatments and Prevention Strategies in Neonatal, Pediatric, Adolescent, and Transition Endocrinology

Dear Colleagues,

Pediatric and adolescent endocrinology are undergoing a rapid transformation driven by breakthroughs in molecular genetics, pharmacogenomics, and translational science. This new era is defined by precision-based diagnostics, targeted therapeutics, and individualized care strategies across the full developmental continuum—from pre-conception, in-utero, and neonates to young adults in transition.

Innovative treatments are reshaping the landscape for previously intractable disorders. Enzyme replacement therapy with bone-targeting recombinant alkaline phosphatase is improving outcomes in hypophosphatasia, while c-type natriuretic peptide analogues offer hope for growth enhancement possibly beyond achondroplasia. Drug repurposing efforts are gaining traction, and novel compounds are being evaluated for monogenic neurodegenerative fatal diseases, such as Wolfram syndrome. Hormone replacement protocols are also evolving. The clinical use of recombinant parathyroid hormone (rPTH) in hypoparathyroidism and rLH/rFSH combinations in hypogonadotropic hypogonadism reflects a shift toward physiologic, individualized regimens. Long-acting growth hormone preparations are advancing through clinical pipelines, promising enhanced adherence and quality of life. Similarly, modified-release hydrocortisone formulations are redefining care in congenital adrenal hyperplasia and Addison’s disease. Technological innovations are transforming diagnostics. Non-invasive prenatal testing using cell-free fetal DNA now enables early detection of congenital adrenal hyperplasia as early as six weeks’ gestation. Genomic technologies, including whole-exome and genome sequencing are increasingly utilized for diagnosing rare endocrine and gynaecological conditions, as well as for reproductive counselling and prenatal risk stratification. In adolescent reproductive health, aromatase inhibitors are being applied beyond growth optimization—emerging as tools to manage fertility and hormonal disorders in both sexes. Advances in understanding the genetic and epigenetic architecture of neuroendocrine tumors and inherited neurometabolic diseases are paving the way for novel therapies including gene therapies. Preventive strategies are gaining prominence, including immunoprevention for gynecological cancers and immune modulation in type 1 diabetes. The broad immunoregulatory potential of vitamin D and calcitriol analogues is under active investigation in autoimmune endocrinopathies. Finally, the complexity of pubertal development, gender identity, hypothalamic amenorrhea, endometriosis, and polycystic ovary syndrome calls for age-sensitive, multidisciplinary approaches. While a deeper understanding of endocrine disruptive mechanisms arises, emerging therapies and diagnostic frameworks aim to ensure timely and appropriate interventions throughout the transition from pediatric to adult endocrine care.

This topical collection welcomes original research, reviews, and clinical reports that highlight state-of-the-art approaches, from molecular mechanisms to bedside applications, in this dynamic and evolving field. We invite you to share your expertise as well as the results of your research with articles (original research manuscripts), reviews and case reports addressing the above challenges.

Assoc. Prof. Dr. Dimitris T. Papadimitriou
Dr. George Paltoglou
Prof. Dr. Antonis Voutetakis
Prof. Dr. George Mastorakos
Prof. Dr. Constantine A. Stratakis
Guest Editors

Manuscript Submission Information

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• pediatric endocrinology
• novel treatments
• hormonal replacement therapy
• innovative diagnostics
• immune modulation
• bone diseases
• growth disorders
• neurometabolic disorders
• adolescent endocrinology
• transition to adulthood
• precision medicine