A 5-week-old white boy presented to the emergency department after referral from his primary care physician with concerns for failure to thrive.The patient's birth weight was 2892 g at 37 weeks of gestation (10th percentile). He was 2665 g at 5 weeks of age (Ͻsecond percentile). He had been exclusively breastfed for the first 3 weeks of his life. At 3 weeks of age, he was introduced to a bottle with expressed breast milk but showed little interest in the bottle. At a well-child checkup at 4 weeks of age, his weight was down, and formula supplementation was recommended. In the last 3 days before the admission, he had been lethargic and had difficulty feeding. He had 2 episodes of projectile vomiting during that week. There was a noticeable reduction in the amount of stool and urine output during the last 2 days before admission, without fever or diarrhea.The patient was born at 37 weeks of gestation by spontaneous vaginal delivery. Mother was found to be group B Streptococcus (GBS) 5 positive but was not treated before delivery, so the patient was monitored for 48 h in the hospital before being discharged home. Mother also had a history of bilateral vesicoureteral reflux and reimplantation surgery. There was no other history of genital, urinary, or kidney abnormalities.On exam, the patient was cachectic and lethargic but did have warm extremities, brisk capillary refill (Ͻ2 s), and good distal pulses. No skin hyperpigmentation was seen and the genitalia were normal. Laboratory tests were significant for potassium 10.2 mmol/L, sodium 116 mmol/L, chloride 91 mmol/L, blood urea nitrogen (BUN)64 mg/dL (22.9 mmol/L), creatinine 0.7 mg/dL (61.9 mol/L), glucose 88 mg/dL (4.9 mmol/L), pH 7.29, CO 2 pressure (PCO 2 ) 29 mmHg, and total CO 2 15.0 mmol/L ( Table 1). The specimen was not hemolyzed. Contamination of the sample with potassium was originally suspected by the medical technologist. Communication with clinical staff confirmed the quality of the sample. Electrocardiogram showed no electrolyterelated changes. The patient's blood pressure was 75/41 mmHg (normal interval 65-85/45-55 mmHg). The patient received normal saline boluses to supplement sodium, kayexalate to chelate potassium, and calcium gluconate to antagonize the membrane actions of hyperkalemia. Although he had 2 normal newborn screens, the possibility of congenital adrenal hyperplasia (CAH) was still in the differential diagnoses owing to such high potassium and low sodium. The patient was started on stress-dose steroids after measurement of baseline adrenocorticotropic hormone (ACTH), renin, aldosterone, 17-hydroxyprogesterone (17-OHP), and cortisol. Urinalysis for the possibility of urinary tract infection (UTI) was also performed. One hour later, sodium increased to 125 mmol/L and potassium decreased to 7.9 mmol/L. The patient was admitted to the neonatal intensive care unit for further evaluation and management. CASE RESOLUTIONOn the second day of admission, cortisol was increased at 38.3 g/dL (1057 nmol/L), and 17-OHP was 29 ng/dL (0.88 nmol/L) (Tab...
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