Paula and Bobby
Parents of Lillie
Adrenal Hypoplasia - Gonadotrophin Deficiency - Hyperpigmentation
What is Adrenal Hypoplasia - Gonadotrophin Deficiency - Hyperpigmentation?
Adrenal Hypoplasia - Gonadotrophin Deficiency - Hyperpigmentation is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Three brothers were reported by Balikcioglu et al., (2013) with congenital adrenal hypoplasia and extensive freckling including axillary freckling. There was a deletion including NROB1 and the MAGE-B cluster but no mutations in the NF1 gene and the gene involved in Legius syndrome. A mild scoliosis occurred in two.
* This information is courtesy of the L M D.
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What gene changes cause Adrenal Hypoplasia - Gonadotrophin Deficiency - Hyperpigmentation?
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 - Hyperpigmentation?
The typical symptoms of the syndrome are:
How does someone get tested for Adrenal Hypoplasia - Gonadotrophin Deficiency - Hyperpigmentation?
The initial testing for Adrenal Hypoplasia - Gonadotrophin Deficiency - Hyperpigmentation 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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