Congenital adrenal hyperplasia
Citation, DOI & article data
Congenital adrenal hyperplasia, previously known as adrenogenital syndrome, is a group of seven autosomal recessive disorders relating to an enzyme deficiency affecting adrenal steroidogenesis.
The incidence is highly variable depending on the enzyme deficiency ranging from 1 in 200-1000 for non-classic 21-alpha-hydroxylase deficiency, 1 in 10,000-20,000 for classic 21-alpha-hydroxylase deficiency through to very rare (<30 cases reported of P450 cholesterol side-chain cleavage enzyme deficiency) 8.
There are a variety of phenotypes depending on the production or lack thereof of glucocorticoid, mineralocorticoid and/or sex steroids. Common clinical presentations include 8:
virilization / atypical genitalia in females (due to androgen excess)
precocious puberty, hirsutism, oligomenorrhea/amenorrhea, female infertility
electrolyte imbalance related to a salt-losing crisis (neonatal salt wasting)
Neonatal screening for 21-alpha-hydroxylase deficiency is present in many countries 8.
Congenital adrenal hyperplasia is a group of seven autosomal recessive disorders of congenital cortisol synthesis involving a deficiency of one of the following enzymes 8:
~90-95% of cases 5,8
mutation in the CYP21A2 gene 10
3-beta-hydroxysteroid dehydrogenase type 2
steroidogenic acute regulatory protein
P450 cholesterol side-chain cleavage enzyme
20-30% of patients with congenital adrenal hyperplasia have adrenal tumors 10:
adenoma (usually non-functional)
myelolipoma (often associated with late diagnosis or poor control)
Features of adrenal hyperplasia may be present 9 and the presence of any adrenal tumor should be sought 10.
Testicular masses may be identified representing testicular adrenal rest tumors (most but not all males 9).
Enlarged loops of adrenal gland or "cerebriform pattern" is highly specific 3.
Treatment and prognosis
Management relies on replacing the deficient glucocorticoid, mineralocorticoid, and/or sex steroid as well as anti-hypertensive treatment 8.
normal neonatal adrenal: can be differentiated from congenital adrenal hyperplasia (CAH) by the characteristic cerebriform appearance on sonography in CAH
- 1. Chambrier E, Heinrichs C, Avni F. Sonographic Appearance of Congenital Adrenal Hyperplasia in Utero. J Ultrasound Med. 2002;21(1):97-100. doi:10.7863/jum.2002.21.1.97 - Pubmed
- 2. Sivit C, Hung W, Taylor G, Catena L, Brown-Jones C, Kushner D. Sonography in Neonatal Congenital Adrenal Hyperplasia. AJR Am J Roentgenol. 1991;156(1):141-3. doi:10.2214/ajr.156.1.1898548 - Pubmed
- 3. Hernanz-Schulman M, Brock J, Russell W. Sonographic Findings in Infants with Congenital Adrenal Hyperplasia. Pediatr Radiol. 2002;32(2):130-7. doi:10.1007/s00247-001-0592-4 - Pubmed
- 4. Bryan P, Caldamone A, Morrison S, Yulish B, Owens R. Ultrasound Findings in the Adreno-Genital Syndrome (Congenital Adrenal Hyperplasia). J Ultrasound Med. 1988;7(12):675-9. doi:10.7863/jum.19220.127.116.115 - Pubmed
- 5. Carlson A, Obeid J, Kanellopoulou N, Wilson R, New M. Congenital Adrenal Hyperplasia: Update on Prenatal Diagnosis and Treatment. J Steroid Biochem Mol Biol. 1999;69(1-6):19-29. doi:10.1016/s0960-0760(99)00059-x - Pubmed
- 6. New M. An Update of Congenital Adrenal Hyperplasia. Ann N Y Acad Sci. 2004;1038(1):14-43. doi:10.1196/annals.1315.009 - Pubmed
- 7. Teixeira S, Elias P, Andrade M, Melo A, Elias Junior J. The Role of Imaging in Congenital Adrenal Hyperplasia. Arq Bras Endocrinol Metabol. 2014;58(7):701-8. doi:10.1590/0004-2730000003371 - Pubmed
- 8. El-Maouche D, Arlt W, Merke D. Congenital Adrenal Hyperplasia. The Lancet. 2017;390(10108):2194-210. doi:10.1016/s0140-6736(17)31431-9
- 9. Morani A, Jensen C, Habra M et al. Adrenocortical Hyperplasia: A Review of Clinical Presentation and Imaging. Abdom Radiol. 2019;45(4):917-27. doi:10.1007/s00261-019-02048-6 - Pubmed
- 10. Nermoen I & Falhammar H. Prevalence and Characteristics of Adrenal Tumors and Myelolipomas in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. Endocrine Practice. 2020;26(11):1351-65. doi:10.4158/ep-2020-0058 - Pubmed