Search results
Results from the WOW.Com Content Network
[citation needed] In women with mild cases, elevated blood pressure and/or infertility is the presenting clinical problem. 17α-hydroxylase deficiency in genetic males results in moderate to severe reduction of fetal testosterone production by adrenal glands and testes. Undervirilization is variable and sometimes complete.
ADAM17 is an 824-amino acid polypeptide.[5] [6]ADAM17 has multidomain structure that includes a pro-domain, a metallo-protease domain, a disintegrin domain, a cysteine-rich domain, an EGF-like domain, a transmembrane domain, and a cytoplasmic tail.
This is a list of primary immunodeficiencies (PID), which are immune deficiencies that are not secondary to another condition.. The International Union of Immunological Societies recognizes nine classes of primary immunodeficiencies, totaling approximately 430 conditions.
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...
17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder of sex development (46,XY DSD). The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III (17β-HSD III), [ 6 ] [ 7 ] presents as atypical genitalia in affected males.
Late onset CAH was originally characterized in 1957 by French biochemist Jacques Decourt, [126] but the association with mild 21-hydroxylase deficiency called nonclassical 21-hydroxylase deficiency, which is characterized by diverse hyperandrogenic symptoms appearing postnatally in males and females, was first described in 1979 by Maria New. [127]
With appropriate treatment, the overall outcome is generally favorable, [10] and most people are able to lead a reasonably normal life. [11] Without treatment, an adrenal crisis can result in death. [1] Addison's disease affects about 9 to 14 per 100,000 people in the developed world. [1] [3] It occurs most frequently in middle-aged females. [1]
Common symptoms include hypertension, hypokalemia, metabolic alkalosis, and low plasma renin activity. [1] DOC excess syndrome is an excessive secretion of 21-hydroxyprogesterone also called 11-Deoxycorticosterone from adrenal glands and may cause mineralocorticoid hypertension. [4] [5] [6]