Hormones drive growth, puberty, and metabolism, so endocrine disease in children often shows first as abnormal growth or development. Plotting height and weight on a growth chart at every visit is one of the most useful endocrine screening tools.
| Disorder | Key mechanism |
|---|
| Type 1 diabetes (T1D) | Autoimmune destruction of beta cells → absolute insulin deficiency. Develops in stages: stage 1 (two or more islet autoantibodies, normal glucose), stage 2 (autoantibodies with abnormal glucose, no symptoms), stage 3 (clinical diabetes) |
| Type 2 diabetes in youth | Insulin resistance with obesity; acanthosis nigricans; increasingly common in adolescents |
| Congenital hypothyroidism | Absent or underdeveloped thyroid, or defective hormone synthesis. Untreated → permanent intellectual disability and growth failure; early treatment gives normal development |
| Hyperthyroidism | Usually Graves disease in adolescent girls |
| Growth hormone (GH) deficiency | Low GH → slow growth velocity, short stature with normal proportions, delayed bone age |
| Central precocious puberty | Early activation of the hypothalamic-pituitary-gonadal axis: puberty signs before age 8 in girls or 9 in boys; early bone maturation shortens final height |
| Central diabetes insipidus (DI) | Deficient antidiuretic hormone (ADH) → large volumes of dilute urine; seen after brain tumors, surgery, or head injury |
| Congenital adrenal hyperplasia (CAH) | Most often 21-hydroxylase deficiency → low cortisol and often aldosterone, excess androgens; salt-wasting crisis in the first weeks of life |
| Cushing syndrome | In children most often from long-term corticosteroid therapy |
Type 1 diabetes
- Polyuria, polydipsia, polyphagia, weight loss, fatigue; new bedwetting in a toilet-trained child; candidal diaper rash in toddlers
- Many children are diagnosed in diabetic ketoacidosis (DKA): vomiting, abdominal pain, dehydration, Kussmaul respirations, fruity breath, drowsiness
Hypoglycemia in children — shakiness, sweating, pallor, hunger, headache, irritability, behavior change or sudden crying, poor concentration, confusion, seizures. Toddlers cannot report symptoms.
Thyroid
| Hypothyroidism | Hyperthyroidism |
|---|
| Infant: prolonged jaundice, large tongue, umbilical hernia, poor feeding, constipation, hypotonia, large fontanels | Weight loss despite appetite, heat intolerance, sweating |
| Child: slow growth, weight gain, fatigue, cold intolerance, dry skin, constipation, delayed puberty, school decline | Tachycardia, palpitations, tremor, anxiety, poor sleep, exophthalmos (Graves), goiter |
Other endocrine findings
- GH deficiency: height falling across percentiles, young facial appearance, increased abdominal fat, hypoglycemia in infants
- Precocious puberty: breast development, pubic hair, growth spurt, acne, body odor; in boys testicular enlargement
- DI: polyuria with pale, dilute urine, intense thirst (craves water), nocturia, dehydration, hypernatremia if the child cannot drink
- CAH: ambiguous genitalia in female newborns; salt-wasting crisis at about 1–4 weeks — vomiting, poor feeding, weight loss, dehydration, hyponatremia, hyperkalemia, hypoglycemia, shock
- Cushing: central obesity, moon face, dorsocervical fat pad, striae, growth failure despite weight gain
Diabetes — same diagnostic criteria as adults (A1C ≥ 6.5%; fasting glucose ≥ 126 mg/dL (7.0 mmol/L); 2-hour OGTT or random glucose with symptoms ≥ 200 mg/dL (11.1 mmol/L)). Islet autoantibodies distinguish T1D from type 2.
Pediatric DKA
| Criterion | Value |
|---|
| Glucose | Above 200 mg/dL (11.1 mmol/L) |
| Acidosis | Venous pH below 7.3 or bicarbonate below 18 mmol/L |
| Ketones | Blood β-hydroxybutyrate 3 mmol/L or more (or moderate/large ketonuria) |
| Severity | Mild pH < 7.3 or HCO₃⁻ < 18 · moderate pH < 7.2 or HCO₃⁻ < 10 · severe pH < 7.1 or HCO₃⁻ < 5 mmol/L |
Other tests
- Newborn screening (heel-stick) for congenital hypothyroidism (TSH and/or T4) and CAH (17-hydroxyprogesterone)
- Thyroid: high TSH with low free T4 = primary hypothyroidism; low TSH with high free T4/T3 = hyperthyroidism
- GH: growth velocity, bone age X-ray, IGF-1, GH stimulation tests (performed fasting; insulin or other agents provoke GH release — frequent glucose checks, IV dextrose available)
- Precocious puberty: bone age, LH response to GnRH stimulation, brain MRI
- DI: serum sodium and osmolality high, urine osmolality low; supervised water deprivation test (weigh hourly, stop if weight loss exceeds about 3–5%); response to desmopressin
Type 1 diabetes
- Insulin is required for life: basal-bolus injections or an insulin pump; continuous glucose monitoring (CGM) and automated insulin delivery systems are standard where available
- A1C target for most children: below 7% (53 mmol/mol) — below 6.5% where achievable without problematic hypoglycemia — individualized to avoid hypoglycemia
- Carbohydrate counting matched to insulin; no forbidden foods — balanced meals for growth
- Teplizumab (age 8 and older with stage 2 T1D) can delay progression to stage 3: watch for cytokine release syndrome, lymphopenia, rash, and infection; give recommended vaccines beforehand
Pediatric DKA (differs from adults)
- Fluids: 10–20 mL/kg isotonic saline over 20–30 minutes if perfusion is poor, then deficit replacement evenly over 24–48 hours
- Insulin infusion 0.05–0.1 units/kg/h, started at least 1 hour after fluid replacement begins — no IV insulin bolus
- Potassium added once the level is known and the child is voiding; replace before insulin if low
- Add dextrose as glucose falls toward about 250–300 mg/dL (14–17 mmol/L) so insulin can continue until acidosis resolves
- Bicarbonate is avoided (except rare life-threatening hyperkalemia)
- Hourly glucose and neuro checks; electrolytes every 2–4 hours
Type 2 diabetes in youth — lifestyle plus metformin (GI upset; hold for dehydration or contrast per protocol); insulin if A1C is high or ketotic; GLP-1 receptor agonists approved for adolescents (contraindicated with personal or family history of medullary thyroid carcinoma or MEN2).
Congenital hypothyroidism — levothyroxine started as soon as possible (within the first 2 weeks), about 10–15 mcg/kg/day initially; frequent TSH and free T4 checks during infancy.
Hyperthyroidism — methimazole (report fever or sore throat — agranulocytosis; rash; liver injury); propylthiouracil is avoided in children (severe liver injury); propranolol for symptoms (avoid in asthma); radioactive iodine or thyroidectomy if needed.
GH deficiency — somatropin subcutaneous injection daily at bedtime (weekly long-acting forms also exist). Report headache or vision changes (intracranial hypertension), limp or hip/knee pain (SCFE), scoliosis progression; monitor glucose and thyroid.
Central precocious puberty — GnRH agonists (leuprolide injection every 1–3 months, triptorelin, or histrelin implant). The first weeks may show a temporary flare of pubertal signs; injection site reactions; report headache or vision changes (pseudotumor cerebri warning). Goal: slow bone maturation to preserve adult height and allow age-appropriate development; puberty resumes after stopping.
Central DI — desmopressin (oral, sublingual, intranasal, or injection). Main risk is water intoxication and hyponatremia (headache, nausea, weight gain, confusion, seizures).
CAH — lifelong hydrocortisone (children: preferred glucocorticoid for growth), fludrocortisone and salt supplements for salt-wasting forms; stress doses during illness, injury, or surgery; salt-wasting crisis → IV saline, dextrose, IV hydrocortisone.
Listed in priority order.
- Hypoglycemia (below 70 mg/dL (3.9 mmol/L))
- Conscious: about 0.3 g/kg of fast-acting carbohydrate (commonly 5–10 g for small children; the adult "rule of 15" — 15 g — applies to adolescents and adult-sized children), recheck in 15 minutes, repeat if still low, then a snack if the next meal is not soon
- Unconscious or unable to swallow: glucagon (IM/SC, intranasal, or ready-to-use forms, dosed by weight or age per label) or IV dextrose; place on the side
- DKA — watch for cerebral edema (most often 4–12 hours after treatment starts): headache, vomiting after initial improvement, decreasing consciousness, irritability, bradycardia, rising BP, age-inappropriate incontinence. Raise the head of bed, notify immediately, prepare mannitol or hypertonic (3%) saline, reduce fluid rate as ordered. Strict intake and output, hourly glucose, cardiac monitoring for potassium changes
- Insulin safety — weight-based doses double-checked; rotate sites systematically (abdomen, thigh, arm, buttock) to prevent lipohypertrophy; do not massage the site
- Endocrine emergencies — adrenal crisis in CAH (IV hydrocortisone, fluids, glucose); thyroid storm (fever, tachycardia, agitation); dehydration and hypernatremia in DI
- Water-balance disorders — daily weight, intake and output, urine specific gravity, serum sodium; allow free access to water in DI unless ordered otherwise
- Growth monitoring — accurate height (stadiometer) and weight plotted on growth charts; growth velocity is the key outcome of GH therapy
- Psychosocial support — body image (precocious puberty, short stature, Cushingoid features), school adjustment, adolescent adherence, screening for disordered eating and insulin omission
- Sick-day rules (T1D)
- Never stop insulin, even if not eating — illness raises glucose
- Check glucose every 2–4 hours and ketones when glucose is above 240 mg/dL (13.3 mmol/L) or when the child is ill; extra rapid-acting insulin per the plan
- Fluids frequently; sugar-containing fluids if glucose is low and the child cannot eat
- Call for vomiting, moderate or large ketones, fast breathing, drowsiness, or glucose that stays high
- Insulin pump: a blocked set or pump failure causes rapid DKA because there is no long-acting insulin — check ketones with unexplained high glucose, change the infusion set every 2–3 days (or per product), carry backup pens or syringes
- School: written diabetes plan (in the US often a Section 504 plan); staff trained to recognize hypoglycemia and give juice or glucose immediately and glucagon; the child may check glucose and eat snacks in class; sports allowed with planning; a hypoglycemic child is never sent alone to the health office
- Exercise: check glucose before, during long activity, and after; carry fast carbohydrate; delayed lows can occur overnight
- Levothyroxine for infants: crush the tablet and mix with a small amount of water, breast milk, or formula given by spoon or syringe — not in a full bottle; separate from soy, iron, and calcium; give every day at the same time; sleepiness is not a side effect — report fast heartbeat, irritability, poor sleep, sweating (overdose)
- GH injections: rotate sites, keep refrigerated as labeled, report limp, hip or knee pain, headache
- Desmopressin: drink only to thirst, avoid excessive fluids, weigh daily; report headache, vomiting, swelling (too much) or return of heavy urination (too little)
- CAH and adrenal insufficiency: increase hydrocortisone for fever, vomiting, or injury as instructed; give emergency IM hydrocortisone if the child cannot keep medicine down and go to the hospital; medical alert identification; never stop suddenly
- Medical identification for all children on insulin, steroids, or desmopressin
| Red flag | Concern |
|---|
| Headache, bradycardia, rising BP, falling consciousness during DKA treatment | Cerebral edema |
| Seizure or unresponsiveness in a child on insulin | Severe hypoglycemia |
| Vomiting, lethargy, low sodium, high potassium in a newborn | Salt-wasting adrenal crisis |
| High fever, tachycardia, agitation in Graves disease | Thyroid storm |
| Fever or sore throat on methimazole | Agranulocytosis |
| Hyponatremia with headache or seizures on desmopressin | Water intoxication |
| Limp or knee pain on GH therapy | SCFE |
| Unexplained high glucose with pump | Infusion failure — impending DKA |
- T1D presents with polyuria, polydipsia, weight loss, new bedwetting; many present in DKA
- Pediatric DKA: fluids first over 24–48 hours, insulin 0.05–0.1 units/kg/h without bolus, add dextrose as glucose falls, watch for cerebral edema
- Hypoglycemia < 70 mg/dL (3.9 mmol/L): fast carbs, recheck in 15 minutes; glucagon if unable to swallow
- Sick day: never omit insulin; check ketones
- Rotate injection sites to prevent lipohypertrophy and lipoatrophy
- Congenital hypothyroidism: newborn screening; start levothyroxine early to prevent intellectual disability; separate from soy, iron, calcium
- High TSH + low free T4 = hypothyroidism; exophthalmos and anxiety = hyperthyroidism
- GH testing requires fasting; GH therapy success = improved growth velocity
- Precocious puberty: GnRH agonist, temporary flare at start, goal = preserve adult height
- DI desmopressin: risk of hyponatremia — drink to thirst only
- CAH: stress-dose hydrocortisone during illness
Country Notes
United States
- Glucose is reported in mg/dL; newborn screening panels, including congenital hypothyroidism and CAH, are state-run and nearly universal.
- Section 504 of the Rehabilitation Act supports diabetes care plans in public schools.
Philippines
- Congenital hypothyroidism and CAH are included in newborn screening under the Newborn Screening Act (RA 9288); results are followed up through newborn screening centers.
- Glucose may be reported in mg/dL, mmol/L, or both (mmol/L × 18 ≈ mg/dL); confirm the unit before acting.
- Insulin pumps and CGM are expensive and less available; multiple daily injections with a glucose meter remain common, so hypoglycemia teaching and supplies are essential.