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WHAT IS THE DISEASE - QUESTIONS AND ANSWERS

Patient Question: What is the definition of 11 Beta Hydroxylase Deficiency?

The MD Doctor Answer For The
Disease / Case - Definition:

It is important to understand what congenital adrenal hyperplasia (CAH) is before the nature of 11 beta hydroxylase deficiency can be fully explained. CAH refers to any one of the many autosomal recessive illnesses that result from flaws in cortisol synthesis steps done by the adrenal glands. All of the types of CAH have either overproduction or malfunctioning of sex steroids. 11 beta hydroxylase deficiency is just one of the types of CAH and is a result of mutation in the gene called CYP11B1. This type is next only to 21-hydroxylase deficiency when it comes to its prevalence, comprising only 5-8% of the entire number of cases...Read about:

11 Beta Hydroxylase Deficiency definition

and other related information for 11 Beta Hydroxylase Deficiency


Patient Question: What is the definition of 11 beta hydroxysteroid dehydrogenase type 2 deficiency?

The MD Doctor Answer For The
Disease / Case - Definition:

11Beta-hydroxysteroid dehydrogenase type 2 deficiency also known as (11beta-HSD2) is one of the most common causes of retention of sodium and serious cases of hypertension. This happens when glucocorticoids are admitted to the mineralocorticosteroid receptors which are non-selective...Read about:

11 beta hydroxysteroid dehydrogenase type 2 deficiency definition

and other related information for 11 beta hydroxysteroid dehydrogenase type 2 deficiency


Patient Question: What is the definition of 17 alpha hydroxylase deficiency?

The MD Doctor Answer For The
Disease / Case - Definition:

17 Alpha hydroxylase deficiency syndrome is a very rare disorder of the genes (specifically on steroid biosynthesis) which causes reduced production of sex steroids and glucocorticoids while the mineralocorticoid precursors are observed to have increased synthesis. It is, therefore, an autosomal recessive condition. The absence or deficiency of 17 hydroxylase results into many sexual malformations and illnesses...Read about:

17 alpha hydroxylase deficiency definition

and other related information for 17 alpha hydroxylase deficiency


Patient Question: What is the definition of 17-beta-hydroxysteroid dehydrogenase deficiency?

The MD Doctor Answer For The
Disease / Case - Definition:

The hormones estrogen and androgen play critical roles in the development of sexual organs. 17b-hydroxysteroid dehydrogenase isozyme (17▀-HSD) acts as a catalyst between the biologically inactive and active types of hormones. Any deviation from this normal process results into various abnormal conditions...Read about:

17-beta-hydroxysteroid dehydrogenase deficiency definition

and other related information for 17-beta-hydroxysteroid dehydrogenase deficiency


Patient Question: What is the definition of 1p36 Deletion Syndrome, rare (NIH)?

The MD Doctor Answer For The
Disease / Case - Definition:

1p36 deletion syndrome also known as monosomy 1p36 is a disorder of the chromosomes in which chromosome 1 loses the end part of its short arm. This disorder was first depicted during the late 90's and the early parts of 2000's. FISH testing is often required to be able to confirm a diagnosis. This condition can occur as a 'pure' case or it can occur together with other imbalances of the chromosome...Read about:

1p36 Deletion Syndrome, rare (NIH) definition

and other related information for 1p36 Deletion Syndrome, rare (NIH)


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