Paula and Bobby
Parents of Lillie
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
What is Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency?
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency is a rare disease. It is also known as 21-hydroxylase Deficiency Adrenal Hyperplasia Iii Congenital Adrenal Hyperplasia 1; Cah1 Cyp21 Deficiency.
This condition results from a deficiency of one of the enzymes of cortisol biosynthesis and in >90% of cases it is 21-hydroxylase. There are 4 forms. Salt wasting, simple virilizing, non-classic and a late-onset mild form. In females the external genitalia are masculinized and there is clitoral andin males penile enlargement. Primary infertility, hirsutism are common, but the reason for including this condition here, is the report by Incorvaia et al., (2003) of a pair od dizygotic twins, both with this condition, who had keratoconus.
* This information is courtesy of the L M D.
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What gene changes cause Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency?
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 - 201910 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
CYP21A2 - 6p21.33
What are the main symptoms of Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency?
The typical symptoms of the syndrome are:
Adrenal hyperplasia, Fever, Hypospadias, Hypertension, Gynecomastia, Growth abnormality, Hypoglycemia, Adrenogenital syndrome, Abnormality of the thorax, Renal salt wasting, Autosomal recessive inheritance
How does someone get tested for Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency?
The initial testing for Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency 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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