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Gonadal tissue inappropriate for external genitalia or chromosomal sex

MedGen UID:
348064
•Concept ID:
C1860268
•
Finding
HPO: HP:0003248

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Gonadal tissue inappropriate for external genitalia or chromosomal sex

Conditions with this feature

Drash syndrome
MedGen UID:
181980
•Concept ID:
C0950121
•
Disease or Syndrome
WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.
See: Condition Record
Drash syndrome

Professional guidelines

PubMed

The Biological Basis of Sex Differences in Athletic Performance: Consensus Statement for the American College of Sports Medicine.
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Epidemiology, Staging, and Management of Multiple Myeloma.
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Recent clinical studies

Etiology

PSRs: Selfish chromosomes that manipulate reproductive development.
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Diagnosis

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Therapy

Xist ribonucleoproteins promote female sex-biased autoimmunity.
Dou DR, Zhao Y, Belk JA, Zhao Y, Casey KM, Chen DC, Li R, Yu B, Srinivasan S, Abe BT, Kraft K, Hellström C, Sjöberg R, Chang S, Feng A, Goldman DW, Shah AA, Petri M, Chung LS, Fiorentino DF, Lundberg EK, Wutz A, Utz PJ, Chang HY
Cell 2024 Feb 1;187(3):733-749.e16. doi: 10.1016/j.cell.2023.12.037. PMID: 38306984Free PMC Article
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Prognosis

Crossover Interference, Crossover Maturation, and Human Aneuploidy.
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Clinical prediction guides

Sex chromosome abnormalities and psychiatric diseases.
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Spinner NB, Eunpu DL, Schmickel RD, Zackai EH, McEldrew D, Bunin GR, McDermid H, Emanuel BS
Am J Hum Genet 1989 May;44(5):631-8. PMID: 2523191Free PMC Article
The prognostic implications of chromosomal findings in acute lymphoblastic leukemia.
Secker-Walker LM
Cancer Genet Cytogenet 1984 Feb;11(2):233-48. doi: 10.1016/0165-4608(84)90119-5. PMID: 6362843

Recent systematic reviews

Global prevalence of Rett syndrome: systematic review and meta-analysis.
Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S
Syst Rev 2023 Jan 16;12(1):5. doi: 10.1186/s13643-023-02169-6. PMID: 36642718Free PMC Article
A systematic review of analytical methods used in genetic association analysis of the X-chromosome.
Keur N, Ricaño-Ponce I, Kumar V, Matzaraki V
Brief Bioinform 2022 Sep 20;23(5) doi: 10.1093/bib/bbac287. PMID: 35901513Free 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
Discordant non-invasive prenatal testing (NIPT) - a systematic review.
Hartwig TS, Ambye L, Sørensen S, Jørgensen FS
Prenat Diagn 2017 Jun;37(6):527-539. Epub 2017 Jun 1 doi: 10.1002/pd.5049. PMID: 28382695
Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review.
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Fertil Steril 2004 Oct;82(4):775-9. doi: 10.1016/j.fertnstert.2003.09.085. PMID: 15482743

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