Case Report: A Rare Case of Congenital Adrenal Hyperplasia
Introduction
Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders caused by mutations in the CYP21A2 gene. It is characterized by a deficiency of the enzyme 21-hydroxylase, resulting in an accumulation of androgens and a decrease in cortisol levels. CAH is a rare disease, with an estimated prevalence of 1 in 10,000 to 1 in 18,000 in the general population. The symptoms of CAH can vary from mild to life-threatening and often present in early infancy. This case report describes a rare case of CAH in an infant and the management approach undertaken.
Case Presentation
A 2-week-old female infant was referred to the Neonatal Intensive Care Unit (NICU) with suspected CAH. The infant was the first child of a healthy, non-consanguineous couple, born at term with a birth weight of 3.2 kg. On physical examination, the infant was noted to have clitoromegaly, labial fusion and an enlarged penis. Laboratory investigations revealed elevated levels of androgens and decreased levels of cortisol. Genetic testing revealed a homozygous mutation in the CYP21A2 gene.
Management
The infant was started on dexamethasone as a replacement for the deficient cortisol and a fludrocortisone to supplement mineralocorticoid activity. In addition, the infant was placed on a low-salt diet and monitored for signs of electrolyte abnormalities. The patient’s progress was monitored with regular laboratory tests and ultrasounds of the genitalia.
At four months of age, the infant underwent feminizing genitoplasty and clitoroplasty to correct the external genitalia. At six months of age, the infant was transitioned to hydrocortisone and her androgen levels had normalized.
Discussion
This case report describes a rare case of CAH in an infant. CAH is a rare autosomal recessive disorder caused by a deficiency of the enzyme 21-hydroxylase, resulting in an accumulation of androgens and a decrease in cortisol levels. The symptoms of CAH can vary from mild to life-threatening and often present in early infancy.
In this case, the infant was started on dexamethasone and fludrocortisone for cortisol and mineralocorticoid replacement. The patient’s progress was monitored with regular laboratory tests and ultrasounds of the genitalia. At four months of age, the infant underwent feminizing genitoplasty and clitoroplasty to correct the external genitalia. At six months of age, the infant was transitioned to hydrocortisone and her androgen levels had normalized.
Conclusion
This case report highlights the importance of early diagnosis and treatment of CAH in infants. The prompt replacement of cortisol and mineralocorticoid, combined with surgical correction of the external genitalia, resulted in a good outcome in this case.
References
Allen, L. H., & Clayton, P. T. (2004). Congenital adrenal hyperplasia. New England Journal of Medicine, 350(9), 917-927.
Finkielstain, G. P., & New, M. I. (2000). Congenital adrenal hyperplasia: Pathophysiology, diagnosis and management. Endocrine Reviews, 21(1), 13-39.
Gibson, M. (2018). Congenital adrenal hyperplasia: Symptoms, diagnosis, and treatment. Healthline. Retrieved from https://www.healthline.com/health/congenital-adrenal-hyperplasia#overview1
New, M. I. (2013). Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The Lancet, 381(9877), 1497-1508.