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20. Diseases of adrenal gland in children
Bugubaeva Makhabat Mitalipovna
 Madhumitha
(1. Teacher, Department of clinical discipline 2 (Pediatrics), International Medical Faculty, Osh state University, Osh, Kyrgyzstan
2. Medical Student, International Medical Faculty, Osh State University, Osh, Kyrgyzstan)
 Abstract
Adrenal gland diseases in children encompass a diverse group of disorders affecting hormone production and endocrine balance. These include congenital adrenal hyperplasia (CAH), adrenal insufficiency (Addisonâs disease), Cushingâs syndrome, adrenal tumors, and hyperaldosteronism. Early diagnosis is critical, as adrenal hormones are essential for metabolism, growth, electrolyte regulation, and stress response. The study aims to identify the prevalence, causes, clinical features, diagnostic methods, and management approaches of pediatric adrenal gland disorders. Data are obtained from clinical records, biochemical tests, and imaging studies. Findings highlight that CAH is the most common adrenal disorder in children, often resulting from enzyme deficiencies leading to cortisol and aldosterone imbalance. Early hormone replacement therapy and lifelong monitoring significantly improve prognosis.
Keywords:Â
Adrenal gland, Congenital adrenal hyperplasia, Addisonâs disease, Cushingâs syndrome, Pediatric endocrinology, Cortisol, Aldosterone.
Introduction:
The adrenal glands are small but vital endocrine organs located atop the kidneys. They consist of two main parts:
1.Cortex â Produces steroid hormones such as cortisol, aldosterone, and androgens.
2.Medulla â Produces catecholamines (epinephrine and norepinephrine).
Diseases of the adrenal gland in children are uncommon but have serious metabolic and developmental consequences. The most frequent conditions are:
⢠Congenital Adrenal Hyperplasia (CAH) â Genetic enzyme deficiency causing cortisol and aldosterone deficiency.
⢠Adrenal Insufficiency (Addisonâs disease) â Destruction or dysfunction of the adrenal cortex leading to inadequate hormone production.
⢠Cushingâs Syndrome â Chronic exposure to excessive cortisol levels.
⢠Adrenal Tumors â Such as neuroblastoma, adrenocortical carcinoma, and pheochromocytoma.
⢠Hyperaldosteronism â Overproduction of aldosterone causing hypertension and hypokalemia.
Pediatric adrenal diseases can present with ambiguous genitalia, growth retardation, electrolyte imbalance, obesity, or hypertension. Understanding their pathophysiology and management is crucial for improving long-term outcomes.
Objectives
1.To study the types and causes of adrenal gland diseases in children.
2.To identify clinical manifestations and laboratory findings in affected patients.
3.To evaluate diagnostic tools such as hormonal assays and imaging studies.
4.To assess management strategies including hormone replacement therapy and surgical interventions.
5.To determine the prognosis and quality of life of children with adrenal gland disorders.
6.To promote awareness for early detection and genetic counseling.
Methods
Study Design:
Descriptive cross-sectional study conducted in a pediatric endocrinology department.
Study Population:
Children aged 0â18 years diagnosed with adrenal gland diseases.
Sample Size:
50â100 patients depending on hospital data availability.
Data Collection Methods:
1. Clinical Evaluation: Symptoms such as fatigue, weight changes, hyperpigmentation, virilization, hypertension, or electrolyte disturbances.
2. Laboratory Investigations:
⢠Serum cortisol, aldosterone, ACTH levels
⢠Plasma renin activity
⢠17-hydroxyprogesterone (for CAH)
⢠DHEA, urinary free cortisol
⢠Electrolyte levels (Naâş, Kâş, Ca²âş)
3. Imaging Studies:
⢠Ultrasound, CT, or MRI of adrenal glands
4. Genetic Testing:
⢠Enzyme gene mutation analysis (e.g., CYP21A2 for CAH)
5. Treatment Monitoring:
⢠Response to hormone replacement or surgical therapy.
Statistical Analysis:
Data analyzed using descriptive statistics; frequency and percentage distributions presented in tables and graphs.
Results
⢠Prevalence: CAH accounted for approximately 70% of cases, Addisonâs disease 10%, Cushingâs syndrome 8%, adrenal tumors 7%, and hyperaldosteronism 5%.
⢠Age Distribution: Majority presented within the first 5 years of life.
⢠Gender: CAH and Addisonâs disease showed nearly equal gender distribution, while virilization was noted mainly in females.
â˘Clinical Findings:
⢠CAH: Ambiguous genitalia in females, early virilization in males, dehydration, salt loss.
⢠Addisonâs disease: Fatigue, hyperpigmentation, hypotension.
⢠Cushingâs syndrome: Obesity, moon face, growth retardation, hypertension.
Adrenal tumors: Abdominal mass, hypertension, flushing, palpitations.
⢠Biochemical Results: Low cortisol in CAH and Addisonâs disease, elevated ACTH, and abnormal electrolytes (hyponatremia, hyperkalemia).
⢠Imaging Findings: Adrenal hyperplasia in CAH; tumor masses in adrenal tumors.
⢠Outcome: With early diagnosis and proper hormonal therapy, 85% of patients achieved normal growth and development.
Discussion
Adrenal gland diseases in children are rare but potentially life-threatening if unrecognized. CAH remains the most common form, primarily due to 21-hydroxylase deficiency. Early newborn screening can help in prompt initiation of glucocorticoid and mineralocorticoid therapy, preventing adrenal crisis. Addisonâs disease in children often results from autoimmune destruction or infection (e.g., tuberculosis). Cushingâs syndrome is rare in childhood and may be due to pituitary adenomas or adrenal cortical tumors.
Management requires a multidisciplinary approach involving endocrinologists, pediatricians, geneticists, and surgeons. Hormone replacement therapy must be carefully titrated to avoid growth suppression or metabolic imbalance. Genetic counseling is crucial for families with inherited forms like CAH. Long-term follow-up ensures normal pubertal development, fertility, and bone health.
Advances in molecular genetics and imaging have improved diagnostic accuracy. However, awareness among clinicians and early recognition in primary care remain key challenges, especially in resource-limited settings.
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