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46,XY disorder of sex development of endocrine origin

MedGen UID:
1842509
•Concept ID:
C5679872
•
Disease or Syndrome
Synonym: 46,XY DSD of endocrine origin
 
Orphanet: ORPHA325351

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV46,XY disorder of sex development of endocrine origin

Recent clinical studies

Etiology

Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.
Looijenga LHJ, Kao CS, Idrees MT
Int J Mol Sci 2019 Oct 10;20(20) doi: 10.3390/ijms20205017. PMID: 31658757Free PMC Article
Mutations in FEZF1 cause Kallmann syndrome.
Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK
Am J Hum Genet 2014 Sep 4;95(3):326-31. doi: 10.1016/j.ajhg.2014.08.006. PMID: 25192046Free PMC Article
Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
Lourenço D, Brauner R, Rybczynska M, Nihoul-Fékété C, McElreavey K, Bashamboo A
Proc Natl Acad Sci U S A 2011 Jan 25;108(4):1597-602. Epub 2011 Jan 10 doi: 10.1073/pnas.1010257108. PMID: 21220346Free PMC Article
L-hydroxytryptophan amplifies pulsatile secretion of LH in the follicular phase of normal women.
Lado-Abeal J, Rey C, Cabezas-Agricola JM, Rodriguez A, Camarero E, Cabezas-Cerrato J
Clin Endocrinol (Oxf) 1997 Nov;47(5):555-63. doi: 10.1046/j.1365-2265.1997.3211126.x. PMID: 9425395
Brief historical note: the concept of "gonadal dysgenesis".
Opitz JM, Pallister PD
Am J Med Genet 1979;4(4):333-43. doi: 10.1002/ajmg.1320040404. PMID: 395846

Diagnosis

A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination.
Cheng D, Lu CF, Gong F, Du J, Yuan S, Luo KL, Tan YQ, Lu GX, Lin G
Hum Reprod 2024 Apr 3;39(4):849-855. doi: 10.1093/humrep/deae026. PMID: 38420683
Molecular insights into the divergence and diversity of post-testicular maturation strategies.
Nixon B, Cafe SL, Eamens AL, De Iuliis GN, Bromfield EG, Martin JH, Skerrett-Byrne DA, Dun MD
Mol Cell Endocrinol 2020 Nov 1;517:110955. Epub 2020 Aug 9 doi: 10.1016/j.mce.2020.110955. PMID: 32783903
Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.
Looijenga LHJ, Kao CS, Idrees MT
Int J Mol Sci 2019 Oct 10;20(20) doi: 10.3390/ijms20205017. PMID: 31658757Free PMC Article
Molecular analysis in Turner syndrome.
ALvarez-Nava F, Soto M, Sánchez MA, Fernández E, Lanes R
J Pediatr 2003 Mar;142(3):336-40. doi: 10.1067/mpd.2003.95. PMID: 12640385
Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia.
Stuchi-Perez EG, Lukas-Croisier C, De Castro M, Baptista MT, Ribeiro Scolfaro M, Marques-De-Faria AP, Hackel C, Maciel-Guerra AT, Guerra Júnior G
J Pediatr Endocrinol Metab 2000 Jun;13(6):605-12. doi: 10.1515/jpem.2000.13.6.605. PMID: 10905384

Therapy

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N
J Clin Endocrinol Metab 2012 Apr;97(4):E694-9. Epub 2012 Feb 8 doi: 10.1210/jc.2011-2938. PMID: 22319038Free PMC Article
The embryologic development of the human vagina.
Ulfelder H, Robboy SJ
Am J Obstet Gynecol 1976 Dec 1;126(7):769-76. doi: 10.1016/0002-9378(76)90666-9. PMID: 1033667
Acquired hyperstrogenism of testicular origin without evidence of neoplasia.
Smith SR
J Clin Endocrinol Metab 1971 Jan;32(1):77-82. doi: 10.1210/jcem-32-1-77. PMID: 4321498

Prognosis

Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.
Looijenga LHJ, Kao CS, Idrees MT
Int J Mol Sci 2019 Oct 10;20(20) doi: 10.3390/ijms20205017. PMID: 31658757Free PMC Article
Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells.
Winge SB, Dalgaard MD, Belling KG, Jensen JM, Nielsen JE, Aksglaede L, Schierup MH, Brunak S, Skakkebæk NE, Juul A, Rajpert-De Meyts E, Almstrup K
Cell Death Dis 2018 May 22;9(6):586. doi: 10.1038/s41419-018-0671-1. PMID: 29789566Free PMC Article
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N
J Clin Endocrinol Metab 2012 Apr;97(4):E694-9. Epub 2012 Feb 8 doi: 10.1210/jc.2011-2938. PMID: 22319038Free PMC Article
Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
Lourenço D, Brauner R, Rybczynska M, Nihoul-Fékété C, McElreavey K, Bashamboo A
Proc Natl Acad Sci U S A 2011 Jan 25;108(4):1597-602. Epub 2011 Jan 10 doi: 10.1073/pnas.1010257108. PMID: 21220346Free PMC Article
The embryologic development of the human vagina.
Ulfelder H, Robboy SJ
Am J Obstet Gynecol 1976 Dec 1;126(7):769-76. doi: 10.1016/0002-9378(76)90666-9. PMID: 1033667

Clinical prediction guides

Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13.
Livermore C, Simon M, Reeves R, Stévant I, Nef S, Pope M, Mallon AM, Wells S, Warr N, Greenfield A
Genetics 2020 Feb;214(2):467-477. Epub 2019 Dec 13 doi: 10.1534/genetics.119.302786. PMID: 31836612Free PMC Article
Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.
Looijenga LHJ, Kao CS, Idrees MT
Int J Mol Sci 2019 Oct 10;20(20) doi: 10.3390/ijms20205017. PMID: 31658757Free PMC Article
Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells.
Winge SB, Dalgaard MD, Belling KG, Jensen JM, Nielsen JE, Aksglaede L, Schierup MH, Brunak S, Skakkebæk NE, Juul A, Rajpert-De Meyts E, Almstrup K
Cell Death Dis 2018 May 22;9(6):586. doi: 10.1038/s41419-018-0671-1. PMID: 29789566Free PMC Article
Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect.
Shammas C, Neocleous V, Toumba M, Costi C, Phedonos AA, Efstathiou E, Kyriakou A, Phylactou LA, Skordis N
Genet Test Mol Biomarkers 2012 Sep;16(9):1073-9. Epub 2012 Aug 2 doi: 10.1089/gtmb.2011.0381. PMID: 22857144
Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
Lourenço D, Brauner R, Rybczynska M, Nihoul-Fékété C, McElreavey K, Bashamboo A
Proc Natl Acad Sci U S A 2011 Jan 25;108(4):1597-602. Epub 2011 Jan 10 doi: 10.1073/pnas.1010257108. PMID: 21220346Free PMC Article

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