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46,XY disorder of sex development due to a cholesterol synthesis defect

MedGen UID:
1842827
•Concept ID:
C5679868
•
Disease or Syndrome
Synonym: 46,XY DSD due to a cholesterol synthesis defect
 
Orphanet: ORPHA325511

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY disorder of sex development due to a cholesterol synthesis defect

Recent clinical studies

Etiology

Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome.
Bouhouche A, Albaroudi N, El Alaoui MA, Askander O, Habbadi Z, El Hassani A, Iraqi H, El Fahime E, Belmekki M
Exp Eye Res 2021 Aug;209:108671. Epub 2021 Jun 13 doi: 10.1016/j.exer.2021.108671. PMID: 34133966
Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.
Ullah A, Bibi F, Haider N, Shahid G, Abdullah, Mustajab T, Khaliq T, Ahmad W
Clin Dysmorphol 2020 Oct;29(4):173-176. doi: 10.1097/MCD.0000000000000340. PMID: 32858544
Lipoid congenital adrenal hyperplasia due to steroid acute regulatory protein (STAR) variants in Three Chinese patients.
Chen H, Zhang Q, Chen R, Yuan X, Lin X, Yang X, Zhang Y
J Steroid Biochem Mol Biol 2020 Jun;200:105635. Epub 2020 Feb 14 doi: 10.1016/j.jsbmb.2020.105635. PMID: 32068072

Diagnosis

Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome.
Bouhouche A, Albaroudi N, El Alaoui MA, Askander O, Habbadi Z, El Hassani A, Iraqi H, El Fahime E, Belmekki M
Exp Eye Res 2021 Aug;209:108671. Epub 2021 Jun 13 doi: 10.1016/j.exer.2021.108671. PMID: 34133966
Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.
Ullah A, Bibi F, Haider N, Shahid G, Abdullah, Mustajab T, Khaliq T, Ahmad W
Clin Dysmorphol 2020 Oct;29(4):173-176. doi: 10.1097/MCD.0000000000000340. PMID: 32858544
Consanguinity and disorders of sex development.
Bashamboo A, McElreavey K
Hum Hered 2014;77(1-4):108-17. Epub 2014 Jul 29 doi: 10.1159/000360763. PMID: 25060274
Genetic defects in pregnenolone synthesis.
Katsumata N
Pediatr Endocrinol Rev 2012 Oct;10 Suppl 1:98-109. PMID: 23330251
46,XY DSD due to impaired androgen production.
Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. PMID: 20541150

Therapy

46,XY DSD due to impaired androgen production.
Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. PMID: 20541150

Prognosis

Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome.
Bouhouche A, Albaroudi N, El Alaoui MA, Askander O, Habbadi Z, El Hassani A, Iraqi H, El Fahime E, Belmekki M
Exp Eye Res 2021 Aug;209:108671. Epub 2021 Jun 13 doi: 10.1016/j.exer.2021.108671. PMID: 34133966
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D
J Clin Endocrinol Metab 2005 Jan;90(1):538-41. Epub 2004 Oct 26 doi: 10.1210/jc.2004-1059. PMID: 15507506

Clinical prediction guides

Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome.
Bouhouche A, Albaroudi N, El Alaoui MA, Askander O, Habbadi Z, El Hassani A, Iraqi H, El Fahime E, Belmekki M
Exp Eye Res 2021 Aug;209:108671. Epub 2021 Jun 13 doi: 10.1016/j.exer.2021.108671. PMID: 34133966
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S
PLoS Genet 2014 May;10(5):e1004340. Epub 2014 May 1 doi: 10.1371/journal.pgen.1004340. PMID: 24784881Free PMC Article
Defects in androgen biosynthesis causing 46,XY disorders of sexual development.
Auchus RJ, Miller WL
Semin Reprod Med 2012 Oct;30(5):417-26. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324726. PMID: 23044879
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D
J Clin Endocrinol Metab 2005 Jan;90(1):538-41. Epub 2004 Oct 26 doi: 10.1210/jc.2004-1059. PMID: 15507506

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