Paula and Bobby
Parents of Lillie
Adrenal Hypoplasia - Gonadotrophin Deficiency - Deafness
What is Adrenal Hypoplasia - Gonadotrophin Deficiency - Deafness?
Adrenal Hypoplasia - Gonadotrophin Deficiency - Deafness is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Several males have been reported with congenital adrenal hypoplasia and gonadotrophin deficiency. Zachmann et al., (1992) review the literature and also report the development of a progressive, high frequency hearing loss, starting at about 14 years of age, in their original cases. Zanaria et al., (1994) and Muscatelli et al., (1994) demonstrated mutations in the DAX-1 gene. This encodes a member of the nuclear hormone receptor superfamily. Further mutations were reported by Yanase et al., (1996), Hamaguchi et al., (1998), Zhang et al., (1998), Zhang et al., (2001), Phelan and McCabe (2001), and Balsamo et al., (2005).
It should be noted that Lalwani et al., (1994) reported a non-syndromic form of X-linked sensorineural hearing loss mapping to Xp21.2. Muroya et al., (1999) carried out deletion mapping in two families with Xp microdeletions involving the DAX-1 gene.
Tabarin et al., (2000) reported a 28 year old man with delayed-onset of adrenal insufficiency and incomplete hypogonadatropic hypogonadism who was shown to have a missense mutations of the DAX1 gene. Intermediate levels of repressor activity of DAX-1 were demonstrated.
* This information is courtesy of the L M D.
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What gene changes cause Adrenal Hypoplasia - Gonadotrophin Deficiency - Deafness?
The syndrome is inherited in the following inheritance pattern/s:
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
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 Adrenal Hypoplasia - Gonadotrophin Deficiency - Deafness?
The typical symptoms of the syndrome are:
How does someone get tested for Adrenal Hypoplasia - Gonadotrophin Deficiency - Deafness?
The initial testing for Adrenal Hypoplasia - Gonadotrophin Deficiency - Deafness 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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