46,XX SEX REVERSAL 1; SRXX1

What is 46,XX SEX REVERSAL 1; SRXX1?

46,XX SEX REVERSAL 1; SRXX1 is a rare disease. It is also known as 46,xx Sex Reversal, Sry-positive 46,xx Testicular Disorder Of Sex Development DSD Sex reversal in males (complete/partial) Xx Male, Sry-positive.

This condition is characterized by individuals whose phenotype does not match that determined by their sex chromosome genotype, such 46,XX individuals with a male phenotype or ambiguous genitalia.
There have, however, been at least four sibling pairs with this condition, and these are summarized in the Armendares et al., (1975) paper. Three of the sibling pairs have been males with bilateral ovotestes and palpable nodules in the gonads, but without a uterus. The penis is often normal and the scrotum might be hypoplastic or bifid. Bilateral gynaecomastia is common. The three males in the Armendares report had a 46,XX karyotype but this is not always true for familial cases.
Lowry et al., (1975) reported affected first cousins with an XY karyotype whose fathers were cousins.
Kuhnle et al., (1993) reported a family where a brother and sister both had a 46,XX karyotype. The boy was apparently normal apart from small testes. The girl had clitoromegaly and a urogenital sinus, but otherwise the genitalia appeared normal and there was normal menstruation. The mother's brother had an XX daughter with ambiguous genitalia who was shown to be a true hermaphrodite (coexistence of testicular and ovarian tissue).
Most cases of true hermaphroditism are sporadic (Krob et al., 1994).
Hadjiathanasiou et al., (1994) reviewed 22 patients. Seventeen had a 46,XX karyotype, one 47,XXY, two cases 46,XX/46,XY and two cases 46,XX/47,XXY. One case had a 46,XX/46,XY karyotype on fibroblast culture only.
Similar families from the literature were reviewed (Kasdan et al., 1973; Berger et al., 1970; Skordis et al., 1987). A two generation family was reported by Ramos et al., (1996). Slaney et al., (1998) reported a similar family and provide a good review of the literature.
Aleck et al., (1999) reported a case with true hermaphroditism where an inverted duplication of 22q13.1->ter was found. There was a urogenital sinus, a vagina, a small uterus and one fallopian tube on the left side. External genitalia were ambiguous. The left gonad had features of an ovary and the right that of a testis with a vas deferens and epididymis.
Jarrah et al., (2000) reported a large, apparently dominant pedigree, in which seven individuals had an XX karyotype but with a phenotype ranging from a male through to hermaphroditism with a prominence of female characteristics.
Maragarit et al., (2000) reported an XX individual with true hermaphroditism. The SRY gene was found to be translocated to the long arm of the X chromosome. The coexistence of testicular and ovarian tissue was postulated to have arisen by differential inactivation of the Y-bearing X chromosome.
Seeherunvong et al., (2004) also reported a case with partial duplication of 22q. External genitalia were almost normal, but he was dysmorphic (no photos) and mentally handicapped. These authors suggest that overexpression of SOX10 might be the cause.

Read More

* This information is courtesy of the L M D.

If you find a mistake or would like to contribute additional information, please email us at: [email protected]

What gene changes cause 46,XX SEX REVERSAL 1; SRXX1?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.


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 - 400045 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
SOX9 - 17q24.3
SRY - Yp11.2
NR5A1 - 9q33.3
SOX9 - 17q24.3
SRY - Yp11.2
NR5A1 - 9q33.3

What are the main symptoms of 46,XX SEX REVERSAL 1; SRXX1?

The typical symptoms of the syndrome are:
N/A

How does someone get tested for 46,XX SEX REVERSAL 1; SRXX1?

The initial testing for 46,XX SEX REVERSAL 1; SRXX1 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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

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.

Benefits of FDNA Telehealth

FDNA icon

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!