Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGV46,XY disorder of sex development due to a cholesterol synthesis defect

46,XY disorder of sex development due to a cholesterol synthesis defect
- Smith-Lemli-Opitz syndrome

Recent clinical studies

Etiology

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

Vanishing testes syndrome-related osteoporosis and high cardio-metabolic risk in an adult male with long term untreated hypergonadotropic hypogonadism.

Carsote M, Capatina C, Valea A, Dumitrascu A
Arch Endocrinol Metab 2016 Feb;60(1):79-84. doi: 10.1590/2359-3997000000127. PMID: 26909487 Free PMC Article

See all (3)

Diagnosis

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

Alu Sx repeat-induced homozygous deletion of the StAR gene causes lipoid congenital adrenal hyperplasia.

Eiden-Plach A, Nguyen HH, Schneider U, Hartmann MF, Bernhardt R, Hannemann F, Wudy SA
J Steroid Biochem Mol Biol 2012 May;130(1-2):1-6. Epub 2012 Jan 11 doi: 10.1016/j.jsbmb.2011.12.016. PMID: 22249004

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

See all (6)

Therapy

Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.

Sahakitrungruang T, Tee MK, Blackett PR, Miller WL
J Clin Endocrinol Metab 2011 Mar;96(3):792-8. Epub 2010 Dec 15 doi: 10.1210/jc.2010-1828. PMID: 21159840 Free PMC Article

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

See all (2)

Clinical prediction guides

Vanishing testes syndrome-related osteoporosis and high cardio-metabolic risk in an adult male with long term untreated hypergonadotropic hypogonadism.

Carsote M, Capatina C, Valea A, Dumitrascu A
Arch Endocrinol Metab 2016 Feb;60(1):79-84. doi: 10.1590/2359-3997000000127. PMID: 26909487 Free PMC Article

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: 24784881 Free 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

See all (3)

MedGen

National Center for Biotechnology Information

Send to:

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

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

Recent activity