Adrenal Crisis Secondary to Congenital Adrenal Hyperplasia in a Young Infant: A Case report and Literature Review
DOI:
https://doi.org/10.31191/afrijcmr.v9i2.189Keywords:
Adrenal hyperplasia, CAH, adrenal crisis, ambiguous genitaliaAbstract
This case highlights the importance of performing a comprehensive newborn examination, including genital examination, before discharging a newborn after delivery. This is particularly crucial in settings where screening for metabolic diseases is not routinely done. We report the case of a 46, XX infant with ambiguous genitalia who was delivered and subsequently admitted to a tertiary hospital facility, but genital ambiguity was not detected until she was re-admitted later at age 5-weeks with adrenal crisis. Clinical assessment on re-admission revealed a lethargic, tachypnoeic and tachycardic infant with hypotension. The genitalia looked ambiguous. Blood investigations showed high levels of 17- hydroxyprogesterone with hyperkalemia, hyponatraemia and severe metabolic acidosis. The karyotype was 46, XX and abdominopelvic ultrasound revealed a uterus and ovaries. She was managed as a 46, XX infant with Adrenal crisis secondary to Salt Losing Congenital Adrenal Hyperplasia and Sepsis. Supplemental oxygen, isotonic intravenous fluids, stress doses of hydrocortisone and antibiotics were given. Oral fludrocortisone and salt supplements were later added, and the patient was followed up after discharge by the Paediatric endocrinologist. Genitoplasty was done at age 6 months by the Paediatric Urology team.
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Copyright (c) 2026 Serwah Bonsu Asafo-Agyei, Emmanuel Ameyaw, Boateng Nimako, Naana Ayiwa Wireko Brobby, Adwoa Pokuaa Boakye-Yiadom (Author)
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