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Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. [1] [2] [3] As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are exposed to significant amounts of testosterone at some point in their lives. [1]
Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. [ 1 ] It affects 1 in 20,000 to 64,000 XY ( karyotypically male) births.
Adults with partial androgen insensitivity syndrome include Australian-Maltese advocate Tony Briffa, considered to be the world's first openly intersex mayor and public office-bearer. [91] Briffa served as Deputy Mayor of the City of Hobsons Bay, Victoria, between 2009 and 2011, and Mayor between 2011 and 2012.
Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond to androgens. [1] [2] [3] The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development.
Androgen deficiency most commonly affects women, and is also called Female androgen insufficiency syndrome (FAIS), although it can happen in both sexes. [ 2 ] [ 3 ] Androgenic activity is mediated by androgens (a class of steroid hormones with varying affinities for the androgen receptor ), and is dependent on various factors including androgen ...
An androgen-dependent condition, disease, disorder, or syndrome, is a medical condition that is, in part or full, dependent on, or is sensitive to, the presence of androgenic activity in the body. [ citation needed ]
Abnormal gonads (due to gonadal dysgenesis and androgen insensitivity syndrome) have a high risk [3] of developing a dysgerminoma. Most dysgerminomas are associated with elevated serum lactic dehydrogenase (LDH), which is sometimes used as a tumor marker.
MRKH syndrome is typically the first diagnosis given, but upon extensive genetic testing and imaging analysis, WNT4 deficiency is the correct diagnosis. Additionally, complete androgen insensitivity syndrome is a rare disorder in which individuals are genetically male (46, XY) but they do not respond to androgens.