46,xy Sex Reversal 4; Srxy4

Description

Sex reversal in an individual associated with a 9p24.3 deletion.

Clinical Features

Phenotypes and symptoms related to 46,xy Sex Reversal 4; Srxy4

  • Cryptorchidism
  • Hypogonadism
  • Decreased testicular size
  • Ambiguous genitalia
  • Hypergonadotropic hypogonadism
  • Malnutrition
  • Gonadal dysgenesis
  • Sex reversal

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

46,xy Sex Reversal 4; Srxy4 Is also known as 46,xy gonadal dysgenesis, partial or complete, with 9p24.3 deletion, chromosome 9p24.3 deletion syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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46,xy Sex Reversal 4; Srxy4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
Ambiguous Genitalia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

ROR2, SOX3, SOX9, SRD5A2, SRY, STAR, CEP41, TSPYL1, WNT4, WT1, CBX2, ZFPM2, ARX, GRIP1, FRAS1, RSPO1, WDR60, B9D1, TCTN3, FREM2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
DMRT1.

By Fulgent Genetics Fulgent Genetics (United States).

DMRT1
Specificity
100 %
Genes
100 %

We have -1 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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