Alopecia Universalis - Xy Gonadal Dysgenesis - Laryngomalacia

What is Alopecia Universalis - Xy Gonadal Dysgenesis - Laryngomalacia?

Alopecia Universalis - Xy Gonadal Dysgenesis - Laryngomalacia is a rare disease. It is also known as El-Shanti syndrome..

El-Shanti et al., (2003) reported two inbred Jordanian kindreds where five individuals showed the combination of alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia persisting beyond infancy. Development appeared to be normal. Genital abnormalities could range from female with Mullerian structures, to male with ambiguous genitalia. Two individuals appeared to have growth hormone deficiency. A further patient, whose parents were first cousins, was reported by Teebi et al., (2004). The patient had an IQ in the borderline range and had little hair. Her height was -2SD and her head circumference -3SD. She had normal female genetalia and her karyotype was XY. An ultrasound revealed no uterus, ovaries or testicular tissue.
Laporoscopy did showed developed spermatic cords. Limited sequencing of the SRY gene revealed no mutations.

* This information is courtesy of the L M D.

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What gene changes cause Alopecia Universalis - Xy Gonadal Dysgenesis - Laryngomalacia?

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.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Alopecia Universalis - Xy Gonadal Dysgenesis - Laryngomalacia?

The typical symptoms of the syndrome are:

How does someone get tested for Alopecia Universalis - Xy Gonadal Dysgenesis - Laryngomalacia?

The initial testing for Alopecia Universalis - Xy Gonadal Dysgenesis - Laryngomalacia 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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