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Adrenal Gland Hyperplasia II

MedGen UID:
925006
Concept ID:
C4284917
Disease or Syndrome
Synonyms: 3-Beta-Hydroxysteroid Dehydrogenase Deficiency; Adrenal Gland Hyperplasia, Congenital, due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency

Definition

Decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD3B2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdrenal Gland Hyperplasia II

Professional guidelines

PubMed

Minnetti M, Caiulo S, Ferrigno R, Baldini-Ferroli B, Bottaro G, Gianfrilli D, Sbardella E, De Martino MC, Savage MO
Clin Endocrinol (Oxf) 2020 Feb;92(2):98-108. Epub 2019 Dec 5 doi: 10.1111/cen.14131. PMID: 31747461
Dundar A, Bayramov R, Onal MG, Akkus M, Dogan ME, Kenanoglu S, Cerrah Gunes M, Kazimli U, Ozbek MN, Ercan O, Yildirim R, Celmeli G, Parlak M, Dundar I, Hatipoglu N, Unluhizarci K, Akalin H, Ozkul Y, Saatci C, Dundar M
Mol Biol Rep 2019 Aug;46(4):3677-3690. Epub 2019 Apr 20 doi: 10.1007/s11033-019-04809-4. PMID: 31006099
Rossi GP, Seccia TM, Pessina AC
J Nephrol 2008 Jul-Aug;21(4):455-62. PMID: 18651533

Recent clinical studies

Etiology

Lochner RH, Delfin L, Nezami BG, Cohen ML, Asa SL, Burguera B, Couce ME
Endocr Pract 2023 Jun;29(6):471-477. Epub 2023 Mar 31 doi: 10.1016/j.eprac.2023.03.274. PMID: 37004872
Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M, Chan L, De Martino MC, Savage MO
Rev Endocr Metab Disord 2023 Apr;24(2):345-363. Epub 2023 Feb 10 doi: 10.1007/s11154-023-09784-7. PMID: 36763264Free PMC Article
Ladurner R, Sommerey S, Buechner S, Dietz A, Degenhart C, Hallfeldt K, Gallwas J
Eur J Clin Invest 2017 May;47(5):372-377. Epub 2017 Apr 7 doi: 10.1111/eci.12746. PMID: 28299775
Bloem LM, Storbeck KH, Swart P, du Toit T, Schloms L, Swart AC
J Steroid Biochem Mol Biol 2015 Sep;153:80-92. Epub 2015 Apr 11 doi: 10.1016/j.jsbmb.2015.04.009. PMID: 25869556
Mantero F, Armanini D, Boscaro M, Carpenè G, Fallo F, Opocher G, Rocco S, Scaroni C, Sonino N
J Steroid Biochem Mol Biol 1991;40(1-3):35-44. doi: 10.1016/0960-0760(91)90165-2. PMID: 1958539

Diagnosis

Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M, Chan L, De Martino MC, Savage MO
Rev Endocr Metab Disord 2023 Apr;24(2):345-363. Epub 2023 Feb 10 doi: 10.1007/s11154-023-09784-7. PMID: 36763264Free PMC Article
Minnetti M, Caiulo S, Ferrigno R, Baldini-Ferroli B, Bottaro G, Gianfrilli D, Sbardella E, De Martino MC, Savage MO
Clin Endocrinol (Oxf) 2020 Feb;92(2):98-108. Epub 2019 Dec 5 doi: 10.1111/cen.14131. PMID: 31747461
Meyer LS, Reincke M, Williams TA
Exp Suppl 2019;111:213-243. doi: 10.1007/978-3-030-25905-1_11. PMID: 31588534
Asbach E, Williams TA, Reincke M
Exp Clin Endocrinol Diabetes 2016 Jun;124(6):335-41. Epub 2016 May 24 doi: 10.1055/s-0042-105278. PMID: 27219889
Mantero F, Armanini D, Boscaro M, Carpenè G, Fallo F, Opocher G, Rocco S, Scaroni C, Sonino N
J Steroid Biochem Mol Biol 1991;40(1-3):35-44. doi: 10.1016/0960-0760(91)90165-2. PMID: 1958539

Therapy

Lenzini L, Prisco S, Vanderriele PE, Lerco S, Torresan F, Maiolino G, Seccia TM, Iacobone M, Rossi GP
J Clin Endocrinol Metab 2019 Sep 1;104(9):3726-3734. doi: 10.1210/jc.2019-00143. PMID: 30865228
Rossi GP, Seccia TM, Pessina AC
J Nephrol 2008 Jul-Aug;21(4):455-62. PMID: 18651533
Sonino N, Boscaro M, Fallo F
Treat Endocrinol 2005;4(2):87-94. doi: 10.2165/00024677-200504020-00003. PMID: 15783246
Drury PL
Clin Endocrinol Metab 1985 Feb;14(1):175-202. doi: 10.1016/s0300-595x(85)80069-4. PMID: 3893808
Pagliara AS, Karl IE, Haymond M, Kipnis DM
J Pediatr 1973 Apr;82(4):558-77. doi: 10.1016/s0022-3476(73)80581-5. PMID: 4349061

Prognosis

Lenzini L, Prisco S, Vanderriele PE, Lerco S, Torresan F, Maiolino G, Seccia TM, Iacobone M, Rossi GP
J Clin Endocrinol Metab 2019 Sep 1;104(9):3726-3734. doi: 10.1210/jc.2019-00143. PMID: 30865228
Ladurner R, Sommerey S, Buechner S, Dietz A, Degenhart C, Hallfeldt K, Gallwas J
Eur J Clin Invest 2017 May;47(5):372-377. Epub 2017 Apr 7 doi: 10.1111/eci.12746. PMID: 28299775
Bloem LM, Storbeck KH, Swart P, du Toit T, Schloms L, Swart AC
J Steroid Biochem Mol Biol 2015 Sep;153:80-92. Epub 2015 Apr 11 doi: 10.1016/j.jsbmb.2015.04.009. PMID: 25869556
Heaton JH, Wood MA, Kim AC, Lima LO, Barlaskar FM, Almeida MQ, Fragoso MC, Kuick R, Lerario AM, Simon DP, Soares IC, Starnes E, Thomas DG, Latronico AC, Giordano TJ, Hammer GD
Am J Pathol 2012 Sep;181(3):1017-33. Epub 2012 Jul 15 doi: 10.1016/j.ajpath.2012.05.026. PMID: 22800756Free PMC Article
Gordon RD, Stowasser M, Klemm SA, Tunny TJ
Steroids 1995 Jan;60(1):35-41. doi: 10.1016/0039-128x(94)00013-3. PMID: 7792813

Clinical prediction guides

Komarowska H, Rucinski M, Tyczewska M, Sawicka-Gutaj N, Szyszka M, Hernik A, Klimont A, Milecka P, Migasiuk L, Biczysko M, Idasiak-Piechocka I, Karczewski M, Ruchala M
Clin Endocrinol (Oxf) 2018 Jul;89(1):36-45. Epub 2018 May 17 doi: 10.1111/cen.13725. PMID: 29682767
Ladurner R, Sommerey S, Buechner S, Dietz A, Degenhart C, Hallfeldt K, Gallwas J
Eur J Clin Invest 2017 May;47(5):372-377. Epub 2017 Apr 7 doi: 10.1111/eci.12746. PMID: 28299775
Bloem LM, Storbeck KH, Swart P, du Toit T, Schloms L, Swart AC
J Steroid Biochem Mol Biol 2015 Sep;153:80-92. Epub 2015 Apr 11 doi: 10.1016/j.jsbmb.2015.04.009. PMID: 25869556
Lefebvre H, Prévost G, Louiset E
Eur J Endocrinol 2013 Nov;169(5):R115-38. Epub 2013 Oct 4 doi: 10.1530/EJE-13-0308. PMID: 23956298
Virdis R
J Endocrinol Invest 2005 Nov;28(10):944-8. doi: 10.1007/BF03345329. PMID: 16419500

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