Pediatric Endocrine and Metabolic Diseases is a medical specialty that focuses on disorders that affect the hormonal and metabolic systems during childhood. Hormones play a critical role in regulating body functions such as growth, development, energy production and sexual maturation. Any disruption in these systems can affect the health, growth, and development of children.
Common Pediatric Endocrine Disorders
Growth Hormone Deficiency: Growth retardation in children due to insufficient secretion of growth hormone.
Overgrowth (Gigantism): Excessive growth in height in children as a result of excessive secretion of growth hormone.
Hypothyroidism: Insufficient secretion of thyroid hormones leads to stunted growth and mental retardation. Newborn screening can help detect the condition at an early stage.
Hyperthyroidism: Symptoms such as heart palpitations, weight loss, and irritability occur because the thyroid gland secretes excessive amounts of thyroid hormones.
Precocious Puberty (Puberty Precox): The onset of pubertal symptoms before the age of 8 in girls, and before the age of 9 in boys.
Delayed puberty: This is the later than normal onset of puberty symptoms, and may be caused by hormonal disorders.
Differences in Sex Development (DSD): Differences in the development of sex organs and hormones.
Type 1 diabetes: It develops as a result of inadequate insulin production by the pancreas. It is the most common type of childhood diabetes.
Type 2 diabetes: Associated with insulin resistance and obesity, it is increasingly common in children.
Congenital adrenal hyperplasia (CAH): In this congenital disorder, the production of the hormone cortisol is impaired and sex hormones are secreted irregularly.
Common Pediatric Metabolic Disorders
Phenylketonuria (PKU): It causes mental retardation as a result of the inability to metabolize the amino acid phenylalanine found in high-protein foods. Key to successful treatment is early detection.
Galactosemia: The body's inability to metabolize milk sugar (galactose) may lead to liver, brain, and kidney damage.
Lipid (Fat) Metabolism Disorders: Failure to properly metabolize fats in the body can lead to high cholesterol and heart disease.
Diagnosis and Treatment
Diagnosis: Blood tests, hormone measurements, genetic tests and imaging techniques are used to make the diagnosis.
Treatment: Hormone replacement therapy, dietary changes, and some metabolic disorders require lifelong specific treatment.
Early detection and appropriate treatment can significantly reduce the impact of these diseases on children's quality of life.
Pediatric Endocrinology and Metabolic Diseases