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Congenital adrenal hyperplasia(CAH)

MedGen UID:
7900
Concept ID:
C0001627
Disease or Syndrome
Synonym: CAH
SNOMED CT: Congenital adrenogenital syndrome (237751000); Congenital adrenal hyperplasia (237751000); CAH - Congenital adrenal hyperplasia (237751000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: STAR, HSD3B2, CYP21A2, CYP17A1, CYP11B1
 
HPO: HP:0008258
Monarch Initiative: MONDO:0018479
Orphanet: ORPHA418

Definition

A type of adrenal hyperplasia with congenital onset. [from HPO]

Term Hierarchy

Conditions with this feature

Deficiency of steroid 11-beta-monooxygenase
MedGen UID:
82783
Concept ID:
C0268292
Disease or Syndrome
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991).
Congenital lipoid adrenal hyperplasia due to STAR deficency
MedGen UID:
83341
Concept ID:
C0342474
Disease or Syndrome
Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996).
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
MedGen UID:
348008
Concept ID:
C1860042
Disease or Syndrome
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.

Professional guidelines

PubMed

Maher JY, Gomez-Lobo V, Merke DP
Rev Endocr Metab Disord 2023 Feb;24(1):71-83. Epub 2022 Nov 18 doi: 10.1007/s11154-022-09770-5. PMID: 36399318Free PMC Article
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
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

Curated

American College of Medical Genetics ACT SHEET, Transition to Adult Health Care ACT Sheet, Congenital Adrenal Hyperplasia (CAH)

American College of Medical Genetics and Genomics, Algorithm, Congenital Adrenal Hyperplasia (Elevated 17-OHP), 2009

Recent clinical studies

Therapy

Fraga NR, Minaeian N, Kim MS
Pediatr Rev 2024 Feb 1;45(2):74-84. doi: 10.1542/pir.2022-005617. PMID: 38296783
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
Maher JY, Gomez-Lobo V, Merke DP
Rev Endocr Metab Disord 2023 Feb;24(1):71-83. Epub 2022 Nov 18 doi: 10.1007/s11154-022-09770-5. PMID: 36399318Free PMC Article
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
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

Glazova O, Bastrich A, Deviatkin A, Onyanov N, Kaziakhmedova S, Shevkova L, Sakr N, Petrova D, Vorontsova MV, Volchkov P
Int J Mol Sci 2023 Mar 10;24(6) doi: 10.3390/ijms24065365. PMID: 36982440Free PMC Article
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
Livadas S, Stratakis CA, Macut D
Front Endocrinol (Lausanne) 2020;11:170. Epub 2020 Mar 31 doi: 10.3389/fendo.2020.00170. PMID: 32296393Free PMC Article
Török D
Exp Suppl 2019;111:245-260. doi: 10.1007/978-3-030-25905-1_12. PMID: 31588535
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

Clinical prediction guides

Matheson E, Bain J
Am Fam Physician 2019 Aug 1;100(3):168-175. PMID: 31361105
Novello L, Speiser PW
Pediatr Ann 2018 Jan 1;47(1):e7-e11. doi: 10.3928/19382359-20171214-04. PMID: 29323690
Pappachan JM, Buch HN
Adv Exp Med Biol 2017;956:215-237. doi: 10.1007/5584_2016_26. PMID: 27864805
Kahn SL, Angle JF
Tech Vasc Interv Radiol 2010 Jun;13(2):110-25. doi: 10.1053/j.tvir.2010.02.006. PMID: 20540920
Pang S
Endocrinol Metab Clin North Am 1997 Dec;26(4):853-91. doi: 10.1016/s0889-8529(05)70285-1. PMID: 9429863

Recent systematic reviews

Hosomi SS, Salles IC, Bachega TASS
Arch Endocrinol Metab 2023 Mar 30;67(3):427-441. doi: 10.20945/2359-3997000000593. PMID: 37011374Free PMC Article
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
Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831
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
Muthusamy K, Elamin MB, Smushkin G, Murad MH, Lampropulos JF, Elamin KB, Abu Elnour NO, Gallegos-Orozco JF, Fatourechi MM, Agrwal N, Lane MA, Albuquerque FN, Erwin PJ, Montori VM
J Clin Endocrinol Metab 2010 Sep;95(9):4161-72. doi: 10.1210/jc.2009-2616. PMID: 20823467

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2018
      American College of Medical Genetics ACT SHEET, Transition to Adult Health Care ACT Sheet, Congenital Adrenal Hyperplasia (CAH)
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Congenital Adrenal Hyperplasia (Elevated 17-OHP), 2009

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