Pediatric endocrine diseases encompass a variety of hormone disorders that present in infancy through adolescence. Hormones are essential chemicals secreted by the endocrine glands to regulate functions in specific body tissues. Pediatric endocrine diseases may be inherited or acquired. Treatment focuses on achieving normal hormone levels, thereby restoring essential target organ functions.
Type 1 Diabetes Mellitus
Type 1 diabetes mellitus develops when the insulin-producing cells of the pancreas, the beta cells, undergo destruction by the immune system. Without sufficient beta cells, the body remains chronically insulin deficient. Insulin serves as the facilitator of sugar, or glucose, transport into the body tissues. Without insulin, glucose cannot enter the tissues. High blood glucose levels and cellular energy deprivation characterize type 1 diabetes mellitus.
Type 1 diabetes is most commonly diagnosed in children and adolescents. The Agency for Healthcare Research and Quality reports that type 1 diabetes occurs in one out of every 400 to 600 children and adolescents in the United States. The cornerstone of type 1 diabetes management is insulin replacement therapy. Tight blood sugar control proves essential in staving off long-term complications of type 1 diabetes.
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia is an inherited disorder of the adrenal glands, which make several important steroid hormones. Aldosterone controls water and salt balance in the body. Cortisol aids in the regulation of protein, fat and sugar metabolism. Additionally, the adrenals produce small amounts of androgens, or male sex hormones.
The defective genes of congenital adrenal hyperplasia prevent the normal formation of cortisol and aldosterone. The building blocks for these hormones accumulate in the adrenals. By default, the precursors are processed into androgens, explains The Merck Manual for Healthcare Professionals. Excess androgens can interfere with the normal development of the female genitals in the womb, causing malformations. Male and female infants and children with congenital adrenal hyperplasia may exhibit signs and symptoms of cortisol and aldosterone deficiency, including diarrhea, vomiting, low blood pressure and low blood sodium. Excess androgens can lead to the growth of pubic and body hair and accelerated growth at an early age. Treatment for congenital adrenal hyperplasia involves cortisol and aldosterone replacement. Females may require reconstructive surgery to correct malformations of the external genitals.
Congenital Hypothyroidism
Congenital hypothyroidism occurs when the thyroid gland fails to develop normally in the womb or functions abnormally, causing a thyroid hormone deficiency. Newborns are routinely screened for congenital hypothyroidism to ensure early detection and treatment, as adequate levels of thyroid hormones are essential to normal growth and development of the brain and body, notes the University of Utah Genetic Science Learning Center. Congenital hypothyroidism is treated with daily thyroid hormone replacement.
References
- Agency for Healthcare Research and Quality: Diabetes Education for Children With Type 1 Diabetes Mellitus and Their Families
- MayoClinic.com: Type 1 Diabetes in Children
- Merck Manual for Healthcare Professionals: Congenital Adrenal Hyperplasia
- National Institute of Child Health and Human Development: Congenital Adrenal Hyperplasia
- The University of Utah Genetic Science Learning Center: Hypothyroidism
