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46,XY disorder of sex development

MedGen UID:: 414114
•Concept ID:: C2751824
•: Disease or Syndrome

Synonym:	46, XY disorder of sex development (DSD)
SNOMED CT:	46,XY disorder of sex development (880094008)

Monarch Initiative:	MONDO:0020040
Orphanet:	ORPHA98085

Definition

Differences of sex development in individuals with 46,XY karyotype. [from NCI]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGV46,XY disorder of sex development

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Abnormality of the genitourinary system
      - Congenital Reproductive System Abnormality
        Disorder of sexual differentiation
        46,XY disorder of sex development
        11p partial monosomy syndrome
        46,XY sex reversal 1
        46,XY sex reversal 4
        Androgen resistance syndrome
        Androgen insensitivity syndrome, mild
        Complete androgen insensitivity syndrome
        Partial androgen insensitivity syndrome
        Drash syndrome
        Denys-Drash Syndrome, Incomplete
        Frasier syndrome
        Gonadal dysgenesis, male
        Gonadoblastoma
        Ovarian gonadoblastoma
        Testicular gonadoblastoma
        Hypogonadism with anosmia
        Hypogonadotropic hypogonadism 1 with or without anosmia
        Hypogonadotropic hypogonadism 2 with or without anosmia
        Hypogonadotropic hypogonadism 3 with or without anosmia
        Hypogonadotropic hypogonadism 4 with or without anosmia
        Hypogonadotropic hypogonadism 5 with or without anosmia
        Hypogonadotropic hypogonadism 6 with or without anosmia
        Penile agenesis

Follow this link to review classifications for 46,XY disorder of sex development in Orphanet.

Professional guidelines

PubMed

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

Altinkilic EM, Augsburger P, Pandey AV, Flück CE
J Endocrinol 2024 Sep 1;262(3) Epub 2024 Jul 18 doi: 10.1530/JOE-24-0078. PMID: 38913505

Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.

Alswailem MM, Alzahrani OS, Alghofaili L, Qasem E, Almohanaa M, Alsagheir A, Bin Abbas B, Attia NA, Al Shaikh A, Alzahrani AS
Endocrine 2019 Feb;63(2):361-368. Epub 2018 Sep 29 doi: 10.1007/s12020-018-1767-1. PMID: 30269266

See all (2)

Recent clinical studies

Etiology

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.

Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Dénes FT, Domenice S, Mendonca BB
Endocr Rev 2019 Dec 1;40(6):1547-1572. doi: 10.1210/er.2019-00049. PMID: 31365064

Genetic testing of XY newborns with a suspected disorder of sex development.

Alimussina M, Diver LA, McGowan R, Ahmed SF
Curr Opin Pediatr 2018 Aug;30(4):548-557. doi: 10.1097/MOP.0000000000000644. PMID: 29782383

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):79-85. Epub 2016 May 6 doi: 10.1016/j.jsbmb.2016.05.002. PMID: 27163392

Steroid 5α-reductase 2 deficiency.

Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD
J Steroid Biochem Mol Biol 2016 Oct;163:206-11. Epub 2016 May 22 doi: 10.1016/j.jsbmb.2016.05.020. PMID: 27224879

A model of delivering multi-disciplinary care to people with 46 XY DSD.

Palmer BW, Wisniewski AB, Schaeffer TL, Mallappa A, Tryggestad JB, Krishnan S, Chalmers LJ, Copeland K, Chernausek SD, Reiner WG, Kropp BP
J Pediatr Urol 2012 Feb;8(1):7-16. Epub 2011 Nov 9 doi: 10.1016/j.jpurol.2011.08.013. PMID: 22078657

See all (150)

Diagnosis

Genetic control of typical and atypical sex development.

Reyes AP, León NY, Frost ER, Harley VR
Nat Rev Urol 2023 Jul;20(7):434-451. Epub 2023 Apr 5 doi: 10.1038/s41585-023-00754-x. PMID: 37020056

Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.

Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.

Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Dénes FT, Domenice S, Mendonca BB
Endocr Rev 2019 Dec 1;40(6):1547-1572. doi: 10.1210/er.2019-00049. PMID: 31365064

Genetic testing of XY newborns with a suspected disorder of sex development.

Alimussina M, Diver LA, McGowan R, Ahmed SF
Curr Opin Pediatr 2018 Aug;30(4):548-557. doi: 10.1097/MOP.0000000000000644. PMID: 29782383

Review and management of 46,XY disorders of sex development.

Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP
J Pediatr Urol 2013 Jun;9(3):368-79. Epub 2012 Dec 29 doi: 10.1016/j.jpurol.2012.12.002. PMID: 23276787

See all (274)

Therapy

Testosterone Therapy and Its Monitoring in Adolescent Boys with Hypogonadism: Results of an International Survey from the I-DSD Registry.

Stancampiano MR, Lucas-Herald AK, Bryce J, Russo G, Barera G, Balsamo A, Baronio F, Bertelloni S, Valiani M, Cools M, Tack LJW, Darendeliler F, Poyrazoglu S, Globa E, Grinspon R, Hannema SE, Hughes IA, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Mladenov V, Konrad D, Mazen I, Niedziela M, Kolesinska Z, Nordenström A, Ahmed SF
Sex Dev 2021;15(4):236-243. Epub 2021 Jul 7 doi: 10.1159/000516784. PMID: 34350903

Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development.

Loch Batista R, Inácio M, Prado Arnhold IJ, Gomes NL, Diniz Faria JA, Rodrigues de Moraes D, Frade Costa EM, Domenice S, Bilharinho Mendonça B
J Clin Endocrinol Metab 2019 Apr 1;104(4):1160-1170. doi: 10.1210/jc.2018-01866. PMID: 30388241

Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.

Fu XH, Zhang WQ, Qu XS
Genet Mol Res 2016 Mar 31;15(1):15018232. doi: 10.4238/gmr.15018232. PMID: 27051040

Impaired testicular function after an ifosfamide-containing regimen for pediatric osteosarcoma: a case series and review of the literature.

Kenney LB, Duffey-Lind E, Ebb D, Sklar CA, Grier H, Diller L
J Pediatr Hematol Oncol 2014 Apr;36(3):237-40. doi: 10.1097/MPH.0b013e3182a27c39. PMID: 24667129

Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A
Horm Res Paediatr 2012;78(2):119-26. Epub 2012 Aug 14 doi: 10.1159/000338346. PMID: 22907560

See all (23)

Prognosis

Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.

Kouri C, Sommer G, Flück CE
Horm Res Paediatr 2023;96(2):169-179. Epub 2021 Sep 17 doi: 10.1159/000519691. PMID: 34537773

Heterogeneity of human WT1 gene.

Bielińska E, Matiakowska K, Haus O
Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. PMID: 28791954

Understanding the genetic aetiology in patients with XY DSD.

Ahmed SF, Bashamboo A, Lucas-Herald A, McElreavey K
Br Med Bull 2013;106:67-89. Epub 2013 Mar 25 doi: 10.1093/bmb/ldt008. PMID: 23529942

MAMLD1 and 46,XY disorders of sex development.

Ogata T, Sano S, Nagata E, Kato F, Fukami M
Semin Reprod Med 2012 Oct;30(5):410-6. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324725. PMID: 23044878

A model of delivering multi-disciplinary care to people with 46 XY DSD.

See all (79)

Clinical prediction guides

Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.

Kouri C, Sommer G, Flück CE
Horm Res Paediatr 2023;96(2):169-179. Epub 2021 Sep 17 doi: 10.1159/000519691. PMID: 34537773

5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.

Avendaño A, Paradisi I, Cammarata-Scalisi F, Callea M
Hormones (Athens) 2018 Jun;17(2):197-204. Epub 2018 Apr 20 doi: 10.1007/s42000-018-0013-9. PMID: 29858846

Heterogeneity of human WT1 gene.

Bielińska E, Matiakowska K, Haus O
Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. PMID: 28791954

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

MAMLD1 and 46,XY disorders of sex development.

Ogata T, Sano S, Nagata E, Kato F, Fukami M
Semin Reprod Med 2012 Oct;30(5):410-6. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324725. PMID: 23044878

See all (101)

Recent systematic reviews

17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.

Krishnappa B, Arya S, Lila AR, Sarathi V, Memon SS, Barnabas R, Kumbhar BV, Bhandare VV, Patil V, Shah NS, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2022 Jul;97(1):43-51. Epub 2022 Feb 27 doi: 10.1111/cen.14694. PMID: 35170787

Clinical Utility of Anti-Mullerian Hormone in Pediatrics.

Kanakatti Shankar R, Dowlut-McElroy T, Dauber A, Gomez-Lobo V
J Clin Endocrinol Metab 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687. PMID: 34537849 Free PMC Article

Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.

Babu R, Shah U
J Pediatr Urol 2021 Feb;17(1):39-47. Epub 2020 Nov 12 doi: 10.1016/j.jpurol.2020.11.017. PMID: 33246831

Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review.

Godfrey LM
J Health Psychol 2021 Jan;26(1):40-59. Epub 2020 Mar 5 doi: 10.1177/1359105320909863. PMID: 32133887

17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review.

Yang Z, Ye L, Wang W, Zhao Y, Wang W, Jia H, Dong Z, Chen Y, Wang W, Ning G, Sun S
J Steroid Biochem Mol Biol 2017 Nov;174:141-145. Epub 2017 Aug 25 doi: 10.1016/j.jsbmb.2017.08.012. PMID: 28847746

See all (7)

MedGen

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46,XY disorder of sex development

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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