46,xy Sex Reversal 10; Srxy10

Description

46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see {163950}) (summary by Mann et al., 1983).For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to 46,xy Sex Reversal 10; Srxy10

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Micropenis
  • Decreased testicular size
  • Ambiguous genitalia
  • Gonadal dysgenesis
  • Sex reversal
  • Gonadoblastoma
  • Teratoma

And another 3 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 10; Srxy10 Is also known as chromosome 17q24 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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XERODERMA PIGMENTOSUM RENAL GLUCOSURIA; GLYS MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23 BARDET-BIEDL SYNDROME 7; BBS7

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more