Paula and Bobby
Parents of Lillie
Adrenal Insufficiency, Congenital, with 46,XY Sex Reversal, Partialor Complete
What is Adrenal Insufficiency, Congenital, with 46,XY Sex Reversal, Partialor Complete?
Adrenal Insufficiency, Congenital, with 46,XY Sex Reversal, Partialor Complete is a rare disease. It is also known as P450scc Deficiency.
* This information is courtesy of the L M D.
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What gene changes cause Adrenal Insufficiency, Congenital, with 46,XY Sex Reversal, Partialor Complete?
The syndrome is inherited in the following inheritance pattern/s:
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 613743 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
CYP11A1 - 15q24.1
What are the main symptoms of Adrenal Insufficiency, Congenital, with 46,XY Sex Reversal, Partialor Complete?
The typical symptoms of the syndrome are:
Hyperaldosteronism, Adrenal insufficiency, Hyperpigmentation of the skin, Sex reversal, Adrenocorticotropic hormone excess, Renal salt wasting
How does someone get tested for Adrenal Insufficiency, Congenital, with 46,XY Sex Reversal, Partialor Complete?
The initial testing for Adrenal Insufficiency, Congenital, with 46,XY Sex Reversal, Partialor Complete can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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