U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

46,XX disorder of sex development

MedGen UID:
424728
•Concept ID:
C2936403
•
Disease or Syndrome
Synonyms: 46, XX Disorders of Sex Development; 46, XX DSD; 46,XX Disorders of Sex Development; 46,XX DSD
SNOMED CT: 46,XX disorder of sex development (890460004)
 
Monarch Initiative: MONDO:0017576
Orphanet: ORPHA2982

Definition

Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. [from NCI]

Professional guidelines

PubMed

Lifestyle management in polycystic ovary syndrome - beyond diet and physical activity.
Cowan S, Lim S, Alycia C, Pirotta S, Thomson R, Gibson-Helm M, Blackmore R, Naderpoor N, Bennett C, Ee C, Rao V, Mousa A, Alesi S, Moran L
BMC Endocr Disord 2023 Jan 16;23(1):14. doi: 10.1186/s12902-022-01208-y. PMID: 36647089Free PMC Article
Polycystic Ovary Syndrome: A Comprehensive Review of Pathogenesis, Management, and Drug Repurposing.
Sadeghi HM, Adeli I, Calina D, Docea AO, Mousavi T, Daniali M, Nikfar S, Tsatsakis A, Abdollahi M
Int J Mol Sci 2022 Jan 6;23(2) doi: 10.3390/ijms23020583. PMID: 35054768Free PMC Article
Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment.
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621

Recent clinical studies

Etiology

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development.
Bertini V, Baldinotti F, Parma P, Tyutyusheva N, Sepich M, Bertolucci G, Rosano C, Caligo MA, Peroni D, Valetto A, Bertelloni S
Genes (Basel) 2023 Nov 12;14(11) doi: 10.3390/genes14112067. PMID: 38003010Free PMC Article
Ovotesticular Disorder of Sex Development in Korean Children: A Single-Center Analysis over a 30-Year Period.
Kim HI, Lee I, Kim SH, Lee YS, Han SW, Yun BH
J Pediatr Adolesc Gynecol 2021 Oct;34(5):626-630. Epub 2021 Mar 2 doi: 10.1016/j.jpag.2021.02.105. PMID: 33667640
The crucial role of SRY gene in the determination of human genetic sex: 46,XX disorder of sex development.
Albu CC, Albu DF, Muşat AR, Stancu IG, Albu ŞD, Pătraşcu A, Gogănău AM
Rom J Morphol Embryol 2019;60(4):1311-1316. PMID: 32239110
Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency.
Agrawal SS, Chakraborty PP, Sinha A, Maiti A
BMJ Case Rep 2019 Dec 3;12(12) doi: 10.1136/bcr-2019-232575. PMID: 31801784Free PMC Article
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G
J Med Genet 2015 Apr;52(4):240-7. Epub 2015 Jan 20 doi: 10.1136/jmedgenet-2014-102864. PMID: 25604083

Diagnosis

Ovotesticular Disorder of Sex Development in Korean Children: A Single-Center Analysis over a 30-Year Period.
Kim HI, Lee I, Kim SH, Lee YS, Han SW, Yun BH
J Pediatr Adolesc Gynecol 2021 Oct;34(5):626-630. Epub 2021 Mar 2 doi: 10.1016/j.jpag.2021.02.105. PMID: 33667640
Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature.
Fan L, Zhang B, Li L, Gong C
Clin Endocrinol (Oxf) 2020 Dec;93(6):687-695. Epub 2020 Jul 27 doi: 10.1111/cen.14277. PMID: 32623730
Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency.
Agrawal SS, Chakraborty PP, Sinha A, Maiti A
BMJ Case Rep 2019 Dec 3;12(12) doi: 10.1136/bcr-2019-232575. PMID: 31801784Free PMC Article
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Tallapaka K, Venugopal V, Dalal A, Aggarwal S
Am J Med Genet A 2018 Apr;176(4):1006-1010. doi: 10.1002/ajmg.a.38646. PMID: 29575617
Laparoscopic surgery in 46,XX disorder of sex development: hysterosalpingectomy with gonadectomy.
de Lima GR, de Cerqueira JB, da Silveira RA, de Moura Reis PH, Rocha MF, Regadas RP, Leitão AS, Gonzaga-Silva LF
J Endourol 2010 Jan;24(1):27-9. doi: 10.1089/end.2009.0082. PMID: 20001739

Clinical prediction guides

A rare case of 46, XX (SRY positive) testicular disorder of sex development with growth hormone deficiency: Case report.
Li H, He J, Leong I
Medicine (Baltimore) 2021 Feb 12;100(6):e24641. doi: 10.1097/MD.0000000000024641. PMID: 33578586Free PMC Article

Recent systematic reviews

Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature.
Fan L, Zhang B, Li L, Gong C
Clin Endocrinol (Oxf) 2020 Dec;93(6):687-695. Epub 2020 Jul 27 doi: 10.1111/cen.14277. PMID: 32623730

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...