Pediatric Pituitary Dysfunction: Diagnosis, Genetics, and Long-Term Outcomes

Pediatric pituitary dysfunction encompasses a broad spectrum of congenital and acquired disorders affecting the hypothalamic–pituitary axis, including combined pituitary hormone deficiency, isolated hormone deficiencies, pituitary stalk interruption syndrome, septo-optic dysplasia, and tumor-related hypopituitarism. These conditions often present during infancy or childhood with growth failure, hypoglycemia, pubertal delay, or evolving endocrine deficits, and may be associated with complex structural, developmental, and genetic abnormalities. Advances in neuroimaging, molecular diagnostics, and genomic sequencing have significantly improved the recognition of these disorders, yet substantial challenges remain in achieving early diagnosis, understanding genotype–phenotype variability, predicting disease progression, and optimizing long-term management strategies.

This Research Topic aims to bring together mechanistic, clinical, and translational research addressing the diagnosis, genetics, and lifelong consequences of pediatric pituitary dysfunction. We welcome studies exploring developmental biology of the hypothalamic–pituitary axis, novel genetic and epigenetic causes of pituitary disorders, and emerging diagnostic approaches integrating imaging, genomics, and endocrine profiling. Particular emphasis will be placed on longitudinal outcomes, including growth, pubertal development, metabolic health, fertility, neurodevelopment, psychosocial well-being, and transition from pediatric to adult endocrine care. Contributions focusing on both congenital and acquired hypopituitarism are encouraged, especially studies addressing hypothalamic–pituitary tumors, survivorship, and evolving endocrine phenotypes over time.

We welcome papers focusing on, but not limited to:

• Developmental biology and molecular regulation of the hypothalamic–pituitary axis

• Genetic and genomic causes of congenital hypopituitarism and pituitary developmental disorders

• Genotype–phenotype correlations and variability in clinical presentation

• Advances in neuroimaging and integrated diagnostic approaches

• Combined pituitary hormone deficiency, isolated hormone deficiencies, and evolving endocrine deficits

• Septo-optic dysplasia, pituitary stalk interruption syndrome, and other midline developmental abnormalities

• Acquired hypopituitarism associated with tumors, irradiation, trauma, or inflammatory conditions

• Long-term endocrine, metabolic, reproductive, neurocognitive, and psychosocial outcomes

• Transition to adult endocrine services and multidisciplinary models of care

• Precision medicine, biomarkers, artificial intelligence, and emerging therapeutic strategies in pediatric pituitary disorders