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A woman with hirsutism from increased androgen exposure. Hyperandrogenism affects 5–10% of women of reproductive age. [11] Hyperandrogenism can affect both men and women but is more noticeable in women since elevated levels of androgens in women may facilitate virilization.
Women with hyperthecosis often have more markedly elevated testosterone, more hirsutism, and are much more likely to be virilized. [4] While elevated androgens in postmenopausal women is rare, [5] hyperthecosis can present in both premenopausal or postmenopausal women. Women with hyperthecosis may or may not have always had underlying PCOS.
A study has revealed that serum progesterone concentrations in boys (10 days to 18 years old) with 21-hydroxylase deficiency reached levels up to 10.14 ng/mL, i.e. similar to female luteal values, while in the control group of boys average level was 0.07 ng/mL (0.22 nmol/L), with values ranging from 0.05 to 0.40 ng/mL. [38]
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]
According to a recent review, estrone levels have been elevated in 17 of 18 patients (94%), while estradiol levels have been elevated only in 13 of 27 patients (48%). [1] As such, estrone is the main estrogen elevated in the condition. [1] In more than half of patients, circulating androstenedione and testosterone levels are low to subnormal. [1]
Anabolic steroid use – people whose testosterone levels are high, including athletes who abuse steroids, people on testosterone replacement for hypogonadism or transgender hormone replacement therapy. [18] Blood doping – Athletes who take erythropoietin-stimulating agents or receive blood transfusions to increase their red blood cell mass. [29]
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Two different genes, each with five exons and four introns, designated as SRD5A1 and SDR5A2, encode two different 5α-reductases. The human 5α-reductase-2 gene (SRD5A2) is located on the short arm of chromosome 2 at band 23 and encodes a 254 amino acid protein, called 5α-reductase type 2.