Paula and Bobby
Parents of Lillie
46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy
What is 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy?
46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy is a rare disease. It is also known as Minifascicular Neuropathy with 46xy Partial Gonadal Dysgenesis..
The patient reported by Umehara et al., (1999), was a 27 year-old female who had immature female genitalia, including the uterus and a blind-ending vagina. She came to attention because of primary amenorrhea and her chromosomes were 46 XY. She had an IQ of 43 and her nails were black. She had a glove and stocking motor and sensory neuropathy. At operation there was a streak testis on one side and a sural nerve biopsy showed minifascicle formation. Her parents were first cousins.
The authors thought that desert hedgehog gene might be a good candidate, and a homozygous missense mutation was indeed found (Umehara et al., 2000). Note that Malandrini et al., (2005) reported a normal 46XX female, with normal genitalia, but with a minifascicle motor-sensory neuropathy. Malandrini et al., (2008) reported a 36-year old female with 46XY pure gonadal dysgenesis and a progressive neuropathy. Sural nerve biopsy showed a pure axonal neuropathy. No mutations were found in SRY, DHH or in PMP22, PO or EGR2.
* This information is courtesy of the L M D.
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What gene changes cause 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy?
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 - 607080 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
DHH - 12q13.12
What are the main symptoms of 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy?
The typical symptoms of the syndrome are:
Gonadal dysgenesis, male, Gonadal dysgenesis, Polyneuropathy, Decreased number of peripheral myelinated nerve fibers
How does someone get tested for 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy?
The initial testing for 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 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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