Case history
Case history #1
A 10-day-old infant is brought into the hospital with vomiting and poor feeding. The infant is dehydrated and tachycardic with signs of shock. Electrolytes reveal hyponatremia and hyperkalemia. On genital exam, a phallic structure is noted with hyperpigmentation of the scrotum, but no testes are palpated. The clinical presentation and electrolyte abnormalities of this case raise concern for adrenal crisis associated with salt-wasting and 21-hydroxylase deficiency is suspected. The infant is managed with stress doses of hydrocortisone and fluid resuscitation. An ultrasound reveals mullerian structures and abdominal gonads. Karyotype result is 46,XX and serum 17-hydroxyprogesterone (17-OHP) concentrations are markedly elevated at 25,000 ng/dL. The infant is started on daily glucocorticoid replacement and discharged on hydrocortisone, fludrocortisone, and salt.
Case history #2
A 16-year-old, previously healthy female presents with acne, hirsutism, and irregular menses. Her pubertal history reveals breast development at 9 years of age and pubic hair development at 7 years of age, and she reported 1 episode of vaginal spotting at approximately 11.5 years of age. A family history includes female relatives with irregular menses with a diagnosis of polycystic ovary syndrome, challenges conceiving, as well as concern for alopecia. The patient is significantly shorter than her target height. In addition to other screening for causes of secondary amenorrhea, a 17-OHP measurement is obtained which is reported as 750 ng/dL. Subsequently, an adrenocorticotropic hormone stimulation test is reported as significant for a normal cortisol response (peak cortisol of 20 mcg/dL) and she has an elevated 17-OHP level at 9,500 ng/dL. This is plotted on a nomogram and confirms nonclassical congenital adrenal hyperplasia.
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