Chapter 19: Caring for the Child With an Endocrinological or Metabolic Condition

The endocrine system regulates critical functions including growth, development, energy metabolism, stress response, and sexual maturation through the coordinated action of hormones as chemical messengers. Growth hormone deficiency presents with short stature below the fifth percentile and requires bone age assessment and stimulation testing, with treatment involving recombinant human growth hormone administered by subcutaneous injection. Precocious puberty, characterized by early secondary sexual characteristic development before age eight in girls or nine in boys, responds to gonadotropin-releasing hormone agonist therapy. Posterior pituitary dysfunction manifests as diabetes insipidus, where either central deficiency of antidiuretic hormone or nephrogenic kidney insensitivity causes polyuria and polydipsia, managed respectively through desmopressin replacement or dietary modification. Syndrome of inappropriate antidiuretic hormone secretion represents the opposite pathology, causing water retention, hyponatremia, and potential neurological complications requiring fluid restriction. Thyroid disorders include congenital and acquired hypothyroidism treated with lifelong levothyroxine supplementation, and Graves disease characterized by autoimmune hyperthyroidism with goiter and exophthalmos, complicated potentially by thyroid storm. Parathyroid imbalances alter calcium homeostasis, producing muscle spasms and seizures in hypoparathyroidism or bone demineralization in hyperparathyroidism. Adrenal conditions encompass Addison disease with cortisol and aldosterone deficiency, Cushing syndrome from glucocorticoid excess causing characteristic moon facies and growth plateau, and congenital adrenal hyperplasia from enzymatic deficiency affecting cortisol synthesis. Pancreatic metabolic disorders include type one diabetes from autoimmune beta cell destruction requiring insulin therapy, type two diabetes from insulin resistance increasingly prevalent in youth, and diabetic ketoacidosis as a life-threatening emergency presenting with Kussmaul respiration and acetone breath, demanding rapid fluid and electrolyte management alongside continuous insulin infusion.