Paula and Bobby
Parents of Lillie
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
What is 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs?
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs is a rare disease. It is also known as Serkal Syndrome.
Mandel et al., (2008) reported a consanguineous family in which there were 3 fetuses with bilateral renal agenesis, initially diagnosed as Potter syndrome. All 3 had hypoplastic lungs and 2 had either small or absent adrenals. There was female (46XX) sex reversal (sex reversal SER, kidneys K, adrenals A and lungs L = SERKAL. The urinary bladder was small in 2. One had male genetalia, one had a distorted penis and hypospadias and the other (not examined) was said to have had female genitalia. Homozygous mutations were found in WNT4 the same gene responsible for, among others, Rokitansky-Mayer (see elsewhere). A similar situation was reported by Biason-Lauber et al., (2004) and by Biason-Lauber et al., (2007).
* This information is courtesy of the L M D.
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What gene changes cause 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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 - 611812 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
WNT4 - 1p36.12
What are the main symptoms of 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs?
The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Renal agenesis, Sex reversal, Adrenal gland agenesis, Bilateral lung agenesis
How does someone get tested for 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs?
The initial testing for 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 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.
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