Congenital Adrenal Hyperplasia

Diagnosis

Typically occurs at birth due to neonatal screening. In addition, many female infants with CAH are typically born with atypical genitalia. (Merke & Auchus, 2022). Screening for Congenital Adrenal Hyperplasia includes:

1. Initial screening for 21-hydroxylase deficiency (21OHD)

2. Liquid chromatography-tandem mass spectrometry due to other enzyme defects such as 11-beta-hydroxylase

3. Cosyntropin (ACTH) stimulation test is indicated to rule out rare disorders of steroidogenesis. The Cosyntropin stimulation test is the gold standard to diagnose all forms of congenital adrenal hyperplasia (CAH) (Merke & Auchus, 2022)

Differential Diagnosis

CAH should be differentiated from other disorders of steroidogenesis such as Oxidoreductase Deficiency, 3β-Hydroxysteroid Dehydrogenase/Isomerase Type 2 Deficiency, 11β-Hydroxylase Deficiency, Lipoid Congenital Adrenal Hyperplasia, Cholesterol Desmolase Deficiency, and 17α-Hydroxylase/17,20-Lyase Deficiency (Witchel, 2017). In addition, the following disorders should also be considered Adrenal hypoplasia, Androgen insensitivity syndrome, Bilateral Adrenal Hemorrhage, Defects in testosterone synthesis, Denys-Dash syndrome, Disorders of sex development, Familial glucocorticoid deficiency, and Fluid and electrolyte management. (Momodu, Lee, & Singh, 2022)

Genetic Counseling

Prenatal genetic counseling can help families to determine the appropriateness of amniocentesis or chorionic villus sampling for diagnosis. In addition, maternal cell-free DNA can also be analyzed (Simpson & Rechitsky 2019).

Antenatal Diagnosis: CAH can be diagnosed during pregnancy by doing genetic testing for pathogenic CYP21A2 gene mutations and other gene mutations associated with CAH. This would require an amniocentesis or chorionic villus sampling to diagnose. NIPS has also successfully diagnosed patients with CAH (Leger, 2022).

Management/treatment YB modified

Management and treatment are focused on the efficient production of corticosteroids. Treatment with hydrocortisone is suggested for confirmed or suspected CAH. Additional treatment after confirmed diagnosis includes sodium chloride supplements and mineralocorticoids such as fludrocortisone (Merke & Auchus, 2022). Urgency medical therapy will be necessary if infants are in an adrenal crisis (Merke & Auchus, 2022). In addition support groups such as, Living with CAH can serve as a good resource. Living with CAH has a good explanation video on their website, https://www.livingwithcah.com/

Prognosis

The best prognosis involves early diagnosis and treatment with hydrocortisone (Momodu, Lee, & Singh, 2022). Mental health treatment due to the emotional strain of ambiguous genitalia may be warranted (Momodu, Lee, & Singh, 2022). In adulthood, hormone replacement therapy and fertility treatment may be needed. In addition, treatment for decreases in bone mineral density or Osteopenia may also be indicated (Varacallo et al).

References

Leger, J (2022). Orphanet: Congenital adrenal hyperplasia. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN

Merke, D. P., MD, MS, & Auchus, R. J., MD, PhD. (2022, October 14). Clinical manifestations and diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in infants and children (M. E. Geffner MD & K. A. Martin MD, Eds.). Retrieved November 11, 2022, from https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-infants-and-children?csi=ccfdd3b7-3816-435d-a178-cba06551ac2d&source=contentShare

Momodu II, Lee B, Singh G. Congenital Adrenal Hyperplasia. [Updated 2022 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK448098/

Simpson, J. L., & Rechitsky, S. (2019). Prenatal genetic testing and treatment for congenital adrenal hyperplasia. Fertility and sterility, 111(1), 21–23. https://doi.org/10.1016/j.fertnstert.2018.11.041

Varacallo M, Seaman TJ, Jandu JS, et al. Osteopenia. [Updated 2022 Sep 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK499878/?report=classic

Witchel, S. F. (2017). Congenital adrenal hyperplasia. Journal of Pediatric and Adolescent Gynecology, 30(5), 520-534. doi:10.1016/j.jpag.2017.04.001