Adrenal Crisis

A 12-day-old male presents to the emergency department with poor feeding, vomiting, and lethargy. 

History
The patient was born full term via vaginal delivery without complications. Newborn screening results have not yet returned. Over the past 48 hours, he has had progressively worsening feeding difficulties, frequent non-bloody, non-bilious emesis, and decreased number of wet diapers. His parents report that he has been sleepier than usual and less responsive. There is no known family history of endocrine disorders or sudden infant death. He has not had a fever or diarrhea. 

Physical Exam
Vitals: T 36.5°C, HR 180 bpm, RR 50/min, BP 65/38 mmHg, SpO₂ 98% on room air. 
General: Ill-appearing, lethargic, minimally responsive. 
HEENT: Sunken fontanelle, dry mucous membranes. 
Lungs: Clear to auscultation, mild tachypnea. Cardiovascular: Tachycardic, weak distal pulses, capillary refill 4 seconds. 
Abdomen: Soft, mildly distended, hypoactive bowel sounds. 
Genitourinary: Normal-appearing male genitalia, testes descended. 
Neurologic: Hypotonic, does not fix or follow, withdraws to pain. 

• Salt-wasting congenital adrenal hyperplasia (CAH) – Most likely diagnosis in a 1–2-week-old male with hypovolemia, vomiting, lethargy, and poor feeding. Electrolyte derangements (once labs are obtained) are characteristic and life-threatening if not promptly treated. 
• Sepsis – Any ill-appearing neonate must be evaluated for sepsis, although absence of fever, leukocytosis, or infectious source makes CAH more likely in this case. 
• Pyloric stenosis – Presents with non-bilious projectile vomiting in weeks 2–8 of life, but typically without hypotension or lethargy. 
• Inborn error of metabolism – Can cause vomiting, poor feeding, and lethargy but typically with additional findings such as seizures or abnormal odors. 
• Dehydration from poor intake – May coexist but would not typically explain the severity of hypotension or lethargy in a previously healthy term infant. 

In any neonate presenting with vomiting, lethargy, poor feeding, dehydration, and hypotension, congenital adrenal hyperplasia (CAH) must be high on the differential—especially when laboratory testing reveals electrolyte abnormalities or hypoglycemia. CAH refers to a family of autosomal recessive enzymatic deficiencies that impair the adrenal glands’ ability to synthesize cortisol, aldosterone, and sometimes sex steroids. The most common form, 21-hydroxylase deficiency, results in impaired cortisol and aldosterone production and increased androgen levels due to diversion of precursors into the androgen pathway. 

In a salt-wasting CAH, aldosterone deficiency leads to renal sodium loss, resulting in hyponatremia, hyperkalemia, and hypovolemia. Cortisol deficiency contributes to hypoglycemia, poor stress response, and worsening cardiovascular instability. Together, these deficiencies can rapidly lead to adrenal crisis—a life-threatening form of shock. 

Initial Evaluation

• Laboratory evaluation: 

• • Basic metabolic panel to assess for hyponatremia, hyperkalemia, metabolic acidosis. 

• • Point-of-care glucose as cortisol deficiency characteristically leads to hypoglycemia.  

• • Venous blood gas to assess acid-base status.  

• • CBC to assess for signs of infection.  

• • Blood culture and urine culture if sepsis is a consideration. 

• • Serum cortisol and ACTH levels, which may support diagnosis. However, treatment should not be delayed while awaiting the results. 

• • 17-hydroxyprogesterone which is elevated in classic CAH (confirmatory if newborn screen pending). 

• • EKG to evaluated for hyperkalemia-related changes such as peaked T-waves.  

• Imaging: 

• • Renal ultrasound. Not required emergently but can assess adrenal glands and kidneys if concern for congenital anomaly. 

Management

• Obtain IV access urgently; consider intraosseous (IO) access if IV access is difficult.  

• Fluid resuscitation with 20 mL/kg isotonic crystalloid fluid bolus (normal saline or lactated ringers) with frequent reassessment of perfusion. 

• Administer IV hydrocortisone immediately — this provides both glucocorticoid and some mineralocorticoid effect. 

• Correct hypoglycemia with dextrose bolus. 

• Treat electrolyte abnormalities: 

• • If potassium is dangerously elevated, administer calcium gluconate, insulin + dextrose, albuterol, and/or sodium bicarbonate as needed. 

• Begin empiric antibiotics only if sepsis remains on differential. 

• Contact endocrinology for guidance and long-term management. 

• CAH may not be diagnosed until a life-threatening adrenal crisis develops. This is particularly true in males who lack genital ambiguity at birth, which may prompt early evaluation shortly after birth. Furthermore, adrenal crisis can often develop before the infant’s newborn screen results.
• Hyponatremia, hyperkalemia, and hypoglycemia in a neonate is CAH until proven otherwise — even before lab confirmation, treat presumptively.
• Newborn screening for CAH may not return for 2–3 weeks, meaning infants can present critically ill before diagnosis.
• Hydrocortisone is the treatment of choice in the acute setting.
• 21-hydroxylase deficiency is the most common cause of CAH. 

Answers

Q1. False. Male infants with CAH typically have normal-appearing genitalia; females are more often diagnosed early due to virilization. 

Q2. True. CAH often presents with a classic pattern of salt-wasting: low sodium, high potassium. 

Q3. A. This child is in adrenal crisis. Immediate stabilization with IV fluids and stress-dose steroids is lifesaving. 

• StatPearls – Congenital Adrenal Hyperplasia.
• Pediatrics In Review – CAH.