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38 Diseases of the Hypothalamic-Pituitary System in Children
Bugubaeva Makhabat Mitalipovna, (HOD) Teacher of «Hospital Pediatrics» Department. International Medical Faculty of Osh State University
Raghuraman Oviya (Year 4th),student of International Medical Faculty of Osh State University
Email: oviyaraghuraman@gmail.com
Telephone:+91-9566215755
Abstract
Diseases of the hypothalamic-pituitary system in children encompass a range of congenital and acquired disorders that affect hormonal regulation, growth, and development. These conditions often present with nonspecific symptoms, making early diagnosis challenging. Common disorders include growth hormone deficiency, central diabetes insipidus, hypopituitarism, precocious puberty, and craniopharyngioma. This study aims to analyze the etiopathogenesis, clinical presentation, diagnostic approaches, and management strategies of hypothalamic-pituitary diseases in pediatric patients. Methods include literature review, clinical data analysis, and evaluation of diagnostic imaging and laboratory investigations. The findings emphasize the importance of early detection and multidisciplinary management to prevent long-term complications.
Keywords: Hypothalamic-pituitary disorders, children, endocrine dysfunction, growth hormone deficiency, hypopituitarism, diabetes insipidus, craniopharyngioma, puberty disorders.
Introduction
The hypothalamic-pituitary axis (HPA) plays a critical role in regulating growth, metabolism, reproduction, and stress responses. In children, diseases of this system can have profound effects on physical and neurocognitive development. The hypothalamus and pituitary gland act as the central regulators of the endocrine system, coordinating hormonal signals to peripheral glands.
Disorders may be congenital (e.g., pituitary hypoplasia, septo-optic dysplasia) or acquired (e.g., tumors, trauma, infection, radiation, autoimmune processes). The prevalence of these disorders is relatively low, but their impact is significant due to long-term consequences on growth and hormonal balance.
The increasing availability of advanced imaging techniques (MRI, CT) and sensitive hormonal assays has improved early diagnosis and outcomes. However, many cases still remain undiagnosed until symptoms become pronounced. Understanding the pathophysiology and clinical manifestations is essential for timely intervention and optimal patient care.
Objectives
1. To analyze the etiopathogenesis of hypothalamic-pituitary diseases in children.
2. To describe the clinical manifestations and classify major disorders of the hypothalamic-pituitary axis.
3. To evaluate diagnostic tools (imaging, hormonal assays, genetic studies) for early identification.
4. To review current treatment modalities including hormonal replacement, surgery, and radiotherapy.
5. To assess long-term outcomes and complications in children with hypothalamic-pituitary disorders.
6. To propose recommendations for early screening and multidisciplinary management.
Methods
• Study Design: Descriptive and analytical review based on clinical case studies and current literature.
• Data Sources: PubMed, Scopus, WHO, and Endocrine Society journals from 2015–2025.
• Inclusion Criteria: Studies and reviews focusing on pediatric hypothalamic-pituitary diseases, including endocrine tumors, hormonal deficiencies, and pubertal disorders.
• Diagnostic Evaluation:
• Hormonal profiling (GH, ACTH, TSH, LH, FSH, ADH, cortisol).
• Neuroimaging (MRI preferred for pituitary-hypothalamic visualization).
• Genetic and immunologic testing where applicable.
• Treatment Review: Hormone replacement therapies, neurosurgical interventions, and emerging gene therapy approaches.
Figure 1. The gut-brain axis (GBA) involves bidirectional communication via neural, immune, and endocrine pathways. The neural pathway operates through the vagus nerve and enteric nervous system, influencing brain function via neurotransmitters like serotonin and GABA. The immune pathway involves cytokine signaling from gut microbiota interactions with immune cells. The endocrine pathway includes hormones like ghrelin, leptin, and SCFAs (short-chain fatty acids) affecting mood and cognition. External factors such as diet, stress, and antibiotics modulate these pathways by altering gut microbiota composition
Outcome Measures: Growth parameters, metabolic control, puberty regulation, quality of life, and neurodevelopmental outcomes.
Figure 2. Bidirectional interaction between the HPA axis and the gut-brain axis (GBA). The HPA axis responds to stress by releasing glucocorticoids, such as cortisol, which modulate the intestinal barrier, IgA production, and gut microbiota. The intestinal barrier, composed of epithelial cells and tight junctions, is crucial to preventing the translocation of pathogens and toxins. Microbiota can influence the HPA axis through immune molecules, hormones and neurotransmitters
Results
Findings from reviewed studies indicate that:
• Etiopathogenesis: Congenital malformations (e.g., pituitary hypoplasia) account for 30–40% of cases; acquired lesions (tumors like craniopharyngioma) represent 25–30%.
• Clinical manifestations: Growth retardation, delayed or precocious puberty, polyuria–polydipsia (diabetes insipidus), obesity, and neuro-ophthalmologic symptoms are common.
• Diagnosis: MRI remains the gold standard for anatomical evaluation; dynamic hormonal tests confirm functional deficits.
Treatment outcomes: Combined endocrinological and neurosurgical management significantly improves prognosis. Growth hormone replacement and hormone substitution therapies show high efficacy when started early.
Complications: Chronic hormone deficiency, visual impairment, and metabolic disturbances persist in some patients despite treatment.
Discussion
The hypothalamic-pituitary system orchestrates multiple hormonal pathways essential for normal growth and development. Disruption at any level—hypothalamic or pituitary—can lead to systemic manifestations. Early diagnosis is often hindered by nonspecific presentations such as fatigue or slow growth.
Advancements in neuroimaging and endocrinological assays have revolutionized diagnostic accuracy, allowing for earlier and more precise interventions. Treatment requires an interdisciplinary approach, involving pediatric endocrinologists, neurosurgeons, ophthalmologists, and psychologists.
Long-term management must focus on continuous hormonal monitoring, psychosocial support, and regular reassessment during growth phases and puberty. Emerging therapies, including stem cell and gene-based interventions, hold promise for future management.
Early detection and comprehensive care are vital to minimize complications and improve the child’s developmental and metabolic outcomes.
References
1. Maghnie M, et al. Hypothalamic–pituitary disorders in childhood: Pathophysiology and management. Endocrine Reviews. 2022.
2. Wass JAH, Stewart PM. Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2021.
3. Kelberman D, et al. Genetic causes of hypothalamic and pituitary dysfunction. Nature Reviews Endocrinology. 2020.
4. Saveanu A, et al. Diagnosis and management of pituitary disorders in children. Hormone Research in Paediatrics. 2023.
5. Molitch ME. Disorders of the Pituitary Gland. New England Journal of Medicine. 2019.
6. Bornstein SR, et al. Management of endocrine diseases in childhood. The Lancet Diabetes & Endocrinology. 2024.
7. WHO Endocrine Disorders in Children: Clinical Guidelines. Geneva, 2023.
