Referral Guidelines are peer reviewed guidelines developed to assist referring providers in their approach to a patient presenting with common signs or symptoms suggestive of an endocrine condition, and when to refer to Pediatric Endocrinology.
- Fatigue
- Weight loss
- Nausea, vomiting
- Abdominal pain
- Weakness
- Salt craving
- Morning headaches
- Hyperpigmentation of gums, palmar creases, scars, elbows, areolae, scrotum, sun unexposed areas
- Dizziness
- Dehydration
- Hypoglycemia: pallor seizures/LOC, moodiness
- Orthostatic hypotension
Family History:
Autoimmune diseases
Adrenal disease
Blood tests:
• Sodium
• Potassium
• Glucose
• Cortisol (7-8 am)
• ACTH
• Renin
Other tests to consider after consultation with Pediatric Endocrinologist
- Adrenal autoantibodies
o Anti-CYP11 (21-
hydroxylase Ab)
o Anti-cortex
adrenal Ab - ACTH stimulation test
- Very long chain fatty
acids
Previous growth data/growth charts
Pertinent medical records
Recent laboratory and radiologic studies
Autoimmune
- Isolate
- Autoimmune Polyglandular
Acquired
- Hemorrhage, infection, infiltration, drugs
Hypopituitarism/ ACTH deficiency
Defects of steroid biosynthesis
- Congenital adrenal hyperplasia
- Congenital lipoid adrenal hyperplasia
Adrenal Dysgenesis
- Adrenal Hypoplasia Congenita
- SF-1 deficiency
- Pallister - Hall syndrome
Metabolic and cholesterol disorders
- X-linked adrenoleukodystrophy o Wolman disease
- Smith-Lemli Opitz o Kearns-Sayre
Familial glucocorticoid deficiency/ ACTH resistance
Allgrove syndrome: alacrima-achalasia-adrenal insufficiency neurologic (ALADIN) disorder
- Children with primary adrenal insufficiency can present with hyponatremia, hyperkalemia and hypoglycemia
- Children with secondary adrenal insufficiency can present with mild hyponatremia and hypoglycemia
- Need to consider adrenal insufficiency in an infant presenting with ambiguous genitalia
- In acute adrenal insufficiency, child will need intravenous sodium
- Hydrocortisone and fludrocortisone
- Patients and caregivers must be carefully and repeatedly trained on how and when to administer stress dose steroids to prevent an adrenal crisis.
- Hsieh, S. and P. C. White (2011). "Presentation of primary adrenal insufficiency in childhood." J Clin Endocrinol Metab 96(6): E925-928.
- Malikova, J. and C. E. Fluck (2014). "Novel insight into etiology, diagnosis and management of primary adrenal insufficiency." Horm Res Paediatr 82(3): 145-157.
- Charmandari, E., N. C. Nicolaides, et al. (2014). "Adrenal insufficiency." Lancet 383(9935): 2152-2167. Author: Emily Walvoord
Emily Walvoord
May 1, 2020