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Congenital Adrenal Gland Disorder

MedGen UID:
272506
•Concept ID:
C1333142
•
Disease or Syndrome

Definition

A genetic disorder that affects the adrenal gland. It includes adrenal gland hyperplasia and adrenal gland hypoplasia. [from NCI]

Professional guidelines

PubMed

Management challenges and therapeutic advances in congenital adrenal hyperplasia.
Mallappa A, Merke DP
Nat Rev Endocrinol 2022 Jun;18(6):337-352. Epub 2022 Apr 11 doi: 10.1038/s41574-022-00655-w. PMID: 35411073Free PMC Article
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, Flück CE, Guasti L, Huebner A, Kortmann BBM, Krone N, Merke DP, Miller WL, Nordenström A, Reisch N, Sandberg DE, Stikkelbroeck NMML, Touraine P, Utari A, Wudy SA, White PC
Endocr Rev 2022 Jan 12;43(1):91-159. doi: 10.1210/endrev/bnab016. PMID: 33961029Free PMC Article
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC
J Clin Endocrinol Metab 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865. PMID: 30272171Free PMC Article

Recent clinical studies

Etiology

Congenital adrenal hyperplasia.
Auer MK, Nordenström A, Lajic S, Reisch N
Lancet 2023 Jan 21;401(10372):227-244. Epub 2022 Dec 8 doi: 10.1016/S0140-6736(22)01330-7. PMID: 36502822
Adrenal myelolipomas.
Calissendorff J, Juhlin CC, Sundin A, Bancos I, Falhammar H
Lancet Diabetes Endocrinol 2021 Nov;9(11):767-775. Epub 2021 Aug 24 doi: 10.1016/S2213-8587(21)00178-9. PMID: 34450092Free PMC Article
Normal and Premature Adrenarche.
Rosenfield RL
Endocr Rev 2021 Nov 16;42(6):783-814. doi: 10.1210/endrev/bnab009. PMID: 33788946Free PMC Article
Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?
Jha S, Turcu AF
Endocrinol Metab Clin North Am 2021 Mar;50(1):151-165. Epub 2021 Jan 9 doi: 10.1016/j.ecl.2020.10.008. PMID: 33518183Free PMC Article
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284

Diagnosis

Adrenal myelolipomas.
Calissendorff J, Juhlin CC, Sundin A, Bancos I, Falhammar H
Lancet Diabetes Endocrinol 2021 Nov;9(11):767-775. Epub 2021 Aug 24 doi: 10.1016/S2213-8587(21)00178-9. PMID: 34450092Free PMC Article
Normal and Premature Adrenarche.
Rosenfield RL
Endocr Rev 2021 Nov 16;42(6):783-814. doi: 10.1210/endrev/bnab009. PMID: 33788946Free PMC Article
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F, Achermann JC
Clin Endocrinol (Oxf) 2020 Jan;92(1):11-20. Epub 2019 Oct 30 doi: 10.1111/cen.14109. PMID: 31610036Free PMC Article
Cushing's syndrome.
Lacroix A, Feelders RA, Stratakis CA, Nieman LK
Lancet 2015 Aug 29;386(9996):913-27. Epub 2015 May 21 doi: 10.1016/S0140-6736(14)61375-1. PMID: 26004339
Adrenal insufficiency.
Auron M, Raissouni N
Pediatr Rev 2015 Mar;36(3):92-102; quiz 103, 129. doi: 10.1542/pir.36-3-92. PMID: 25733761

Therapy

Congenital adrenal hyperplasia.
Auer MK, Nordenström A, Lajic S, Reisch N
Lancet 2023 Jan 21;401(10372):227-244. Epub 2022 Dec 8 doi: 10.1016/S0140-6736(22)01330-7. PMID: 36502822
Management challenges and therapeutic advances in congenital adrenal hyperplasia.
Mallappa A, Merke DP
Nat Rev Endocrinol 2022 Jun;18(6):337-352. Epub 2022 Apr 11 doi: 10.1038/s41574-022-00655-w. PMID: 35411073Free PMC Article
Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. PMID: 33527139Free PMC Article
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284

Prognosis

Adrenal myelolipomas.
Calissendorff J, Juhlin CC, Sundin A, Bancos I, Falhammar H
Lancet Diabetes Endocrinol 2021 Nov;9(11):767-775. Epub 2021 Aug 24 doi: 10.1016/S2213-8587(21)00178-9. PMID: 34450092Free PMC Article
Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. PMID: 33527139Free PMC Article
Congenital Adrenal Hyperplasia.
Török D
Exp Suppl 2019;111:245-260. doi: 10.1007/978-3-030-25905-1_12. PMID: 31588535
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
Cushing's syndrome.
Lacroix A, Feelders RA, Stratakis CA, Nieman LK
Lancet 2015 Aug 29;386(9996):913-27. Epub 2015 May 21 doi: 10.1016/S0140-6736(14)61375-1. PMID: 26004339

Clinical prediction guides

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. PMID: 33527139Free PMC Article
Hirsutism in Women.
Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105
Adrenal myelolipoma: a comprehensive review.
Decmann Á, Perge P, Tóth M, Igaz P
Endocrine 2018 Jan;59(1):7-15. Epub 2017 Nov 21 doi: 10.1007/s12020-017-1473-4. PMID: 29164520
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T
Proc Natl Acad Sci U S A 2013 Feb 12;110(7):2611-6. Epub 2013 Jan 28 doi: 10.1073/pnas.1300057110. PMID: 23359698Free PMC Article
Adrenal vein sampling.
Kahn SL, Angle JF
Tech Vasc Interv Radiol 2010 Jun;13(2):110-25. doi: 10.1053/j.tvir.2010.02.006. PMID: 20540920

Recent systematic reviews

Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.
Gusmano C, Cannarella R, Crafa A, Barbagallo F, La Vignera S, Condorelli RA, Calogero AE
J Endocrinol Invest 2023 Jan;46(1):1-14. Epub 2022 Jul 17 doi: 10.1007/s40618-022-01849-9. PMID: 35842891Free PMC Article
Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis.
Guo X, Zhang Y, Yu Y, Zhang L, Ullah K, Ji M, Jin B, Shu J
Front Endocrinol (Lausanne) 2022;13:982953. Epub 2022 Aug 31 doi: 10.3389/fendo.2022.982953. PMID: 36120452Free PMC Article
Congenital Adrenal Hyperplasia and Brain Health: A Systematic Review of Structural, Functional, and Diffusion Magnetic Resonance Imaging (MRI) Investigations.
Khalifeh N, Omary A, Cotter DL, Kim MS, Geffner ME, Herting MM
J Child Neurol 2022 Aug;37(8-9):758-783. Epub 2022 Jun 23 doi: 10.1177/08830738221100886. PMID: 35746874Free PMC Article
Digit ratio (2D:4D) and congenital adrenal hyperplasia (CAH): Systematic literature review and meta-analysis.
Richards G, Browne WV, Aydin E, Constantinescu M, Nave G, Kim MS, Watson SJ
Horm Behav 2020 Nov;126:104867. Epub 2020 Oct 6 doi: 10.1016/j.yhbeh.2020.104867. PMID: 32998030
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Carmina E, Dewailly D, Escobar-Morreale HF, Kelestimur F, Moran C, Oberfield S, Witchel SF, Azziz R
Hum Reprod Update 2017 Sep 1;23(5):580-599. doi: 10.1093/humupd/dmx014. PMID: 28582566

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