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XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas , [ 1 ] the person has underdeveloped gonads, fibrous tissue termed " streak gonads ", and if left untreated, will not experience puberty .
Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. [1]
The dysgenic testis can have an amount of functional tissue which can produce a level of testosterone, which causes masculinisation. [22] [23] Mixed gonadal dysgenesis is poorly understood at the molecular level. [23] The loss of the Y chromosome can occur from deletions, translocations, or migration diffenernce of paired chromosomes during ...
Men with low serum testosterone levels should have other hormones checked, particularly luteinizing hormone to help determine why their testosterone levels are low and help choose the most appropriate treatment (most notably, testosterone is usually not appropriate for secondary or tertiary forms of male hypogonadism, in which the LH levels are ...
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
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Testosterone levels in males and females ; Total testosterone Stage Age range Male Female Values SI units Values SI units ; Infant: Premature (26–28 weeks) 59–125 ng/dL: 2.047–4.337 nmol/L
Swyer syndrome. A form of complete gonadal dysgenesis, mostly due to mutations in the first step of sex determination; the SRY genes. A 5-alpha-reductase deficiency results in atypical development characterized by female phenotype or undervirilized male phenotype with development of the epididymis , vas deferens , seminal vesicle , and ...
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