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Idiopathic 46,XY Differences of Sex Development

MedGen UID:
1383408
•Concept ID:
C4331901
•
Congenital Abnormality

Definition

Conditions affecting individuals whose karyotype is 46,XY that is characterized by atypical development of the internal or external sex structures, or the gonads, and in whom no genetic, environmental, or biochemical causation can be established. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIdiopathic 46,XY Differences of Sex Development

Professional guidelines

PubMed

Testing for genetic contributions to infertility: potential clinical impact.
Krausz C, Cioppi F, Riera-Escamilla A
Expert Rev Mol Diagn 2018 Apr;18(4):331-346. Epub 2018 Mar 22 doi: 10.1080/14737159.2018.1453358. PMID: 29540081
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.
Kim HG, Pedersen-White J, Bhagavath B, Layman LC
Front Horm Res 2010;39:94-110. Epub 2010 Apr 8 doi: 10.1159/000312696. PMID: 20389088Free PMC Article

Recent clinical studies

Etiology

46,XY disorders of sex development: the use of NGS for prevalent variants.
Xie QG, Luo P, Xia K, Li ZQ, Xu Z, Su C, Deng CH
Hum Genet 2022 Dec;141(12):1863-1873. Epub 2022 Jun 21 doi: 10.1007/s00439-022-02465-6. PMID: 35729303
Pattern of Male Hypogonadism and Outcome of Treatment in South Rajasthan.
Sharma KR, Sharma H, Vishnoi J, Sharma RK, Goel S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443335
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.
Welch BA, Cho HJ, Ucakturk SA, Farmer SM, Cetinkaya S, Abaci A, Akkus G, Simsek E, Kotan LD, Turan I, Gurbuz F, Yuksel B, Wray S, Topaloglu AK
J Neuroendocrinol 2022 Apr;34(4):e13103. Epub 2022 Feb 16 doi: 10.1111/jne.13103. PMID: 35170806
Testing for genetic contributions to infertility: potential clinical impact.
Krausz C, Cioppi F, Riera-Escamilla A
Expert Rev Mol Diagn 2018 Apr;18(4):331-346. Epub 2018 Mar 22 doi: 10.1080/14737159.2018.1453358. PMID: 29540081
New understandings of the genetic basis of isolated idiopathic central hypogonadism.
Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L; Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes
Asian J Androl 2012 Jan;14(1):49-56. Epub 2011 Dec 5 doi: 10.1038/aja.2011.68. PMID: 22138902Free PMC Article

Diagnosis

46,XY disorders of sex development: the use of NGS for prevalent variants.
Xie QG, Luo P, Xia K, Li ZQ, Xu Z, Su C, Deng CH
Hum Genet 2022 Dec;141(12):1863-1873. Epub 2022 Jun 21 doi: 10.1007/s00439-022-02465-6. PMID: 35729303
Genetic mutations contributing to non-obstructive azoospermia.
Peña VN, Kohn TP, Herati AS
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101479. Epub 2020 Dec 15 doi: 10.1016/j.beem.2020.101479. PMID: 33390350
Testing for genetic contributions to infertility: potential clinical impact.
Krausz C, Cioppi F, Riera-Escamilla A
Expert Rev Mol Diagn 2018 Apr;18(4):331-346. Epub 2018 Mar 22 doi: 10.1080/14737159.2018.1453358. PMID: 29540081
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Genetics of Hypogonadotropic Hypogonadism.
Topaloglu AK, Kotan LD
Endocr Dev 2016;29:36-49. Epub 2015 Dec 17 doi: 10.1159/000438841. PMID: 26680571

Therapy

Pattern of Male Hypogonadism and Outcome of Treatment in South Rajasthan.
Sharma KR, Sharma H, Vishnoi J, Sharma RK, Goel S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443335
Successful pregnancy in a Swyer syndrome patient with preexisting hypertension.
Creatsas G, Deligeoroglou E, Tsimaris P, Pantos K, Kreatsa M
Fertil Steril 2011 Aug;96(2):e83-5. doi: 10.1016/j.fertnstert.2011.05.061. PMID: 21782051
Complex genetics in idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Durrani S, Raivio T, Sykiotis GP
Front Horm Res 2010;39:142-153. Epub 2010 Apr 8 doi: 10.1159/000312700. PMID: 20389092
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.
Sykiotis GP, Hoang XH, Avbelj M, Hayes FJ, Thambundit A, Dwyer A, Au M, Plummer L, Crowley WF Jr, Pitteloud N
J Clin Endocrinol Metab 2010 Jun;95(6):3019-27. Epub 2010 Apr 9 doi: 10.1210/jc.2009-2582. PMID: 20382682Free PMC Article
Developmental and genetic disorders in spermatogenesis.
Diemer T, Desjardins C
Hum Reprod Update 1999 Mar-Apr;5(2):120-40. doi: 10.1093/humupd/5.2.120. PMID: 10336017

Prognosis

Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.
Chu G, Li P, Zhao Q, He R, Zhao Y
Reprod Biol Endocrinol 2023 Mar 1;21(1):23. doi: 10.1186/s12958-023-01074-w. PMID: 36859276Free PMC Article
Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.
Wang SS, Zhao WY, Wu HX, Shu M, Yuan JX, Fang L, Xu C
Yi Chuan 2022 Oct 20;44(10):937-949. doi: 10.16288/j.yczz.22-196. PMID: 36384729
Testing for genetic contributions to infertility: potential clinical impact.
Krausz C, Cioppi F, Riera-Escamilla A
Expert Rev Mol Diagn 2018 Apr;18(4):331-346. Epub 2018 Mar 22 doi: 10.1080/14737159.2018.1453358. PMID: 29540081
Complex genetics in idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Durrani S, Raivio T, Sykiotis GP
Front Horm Res 2010;39:142-153. Epub 2010 Apr 8 doi: 10.1159/000312700. PMID: 20389092
Reversal of idiopathic hypogonadotropic hypogonadism.
Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr, Pitteloud N
N Engl J Med 2007 Aug 30;357(9):863-73. doi: 10.1056/NEJMoa066494. PMID: 17761590

Clinical prediction guides

Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.
Chu G, Li P, Zhao Q, He R, Zhao Y
Reprod Biol Endocrinol 2023 Mar 1;21(1):23. doi: 10.1186/s12958-023-01074-w. PMID: 36859276Free PMC Article
Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.
Wang SS, Zhao WY, Wu HX, Shu M, Yuan JX, Fang L, Xu C
Yi Chuan 2022 Oct 20;44(10):937-949. doi: 10.16288/j.yczz.22-196. PMID: 36384729
Pattern of Male Hypogonadism and Outcome of Treatment in South Rajasthan.
Sharma KR, Sharma H, Vishnoi J, Sharma RK, Goel S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443335
Testing for genetic contributions to infertility: potential clinical impact.
Krausz C, Cioppi F, Riera-Escamilla A
Expert Rev Mol Diagn 2018 Apr;18(4):331-346. Epub 2018 Mar 22 doi: 10.1080/14737159.2018.1453358. PMID: 29540081
New understandings of the genetic basis of isolated idiopathic central hypogonadism.
Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L; Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes
Asian J Androl 2012 Jan;14(1):49-56. Epub 2011 Dec 5 doi: 10.1038/aja.2011.68. PMID: 22138902Free PMC Article

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