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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 .
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 ...
Meanwhile, XY gonadal dysgenesis is known as PGD, 46,XY or Swyer syndrome. Patients with PGD have a normal chromosomal constellation but may have localized genetic alterations. XX gonadal dysgenesis is related to Swyer syndrome, since both conditions have the same phenotype and clinical issues; however in Swyer syndrome the karyotype is 46,XY ...
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]
A person with androgen insensitivity syndrome produces androgens and testosterone but their body does not recognize it, either partially or completely. Mild androgen insensitivity syndrome generally causes no developmental issues and people with this form are raised as males. [ 24 ]
Normal total testosterone levels depend on the man's age but generally range from 240 to 950 ng/dL (nanograms per deciliter) or 8.3–32.9 nmol/L (nanomoles per liter). [11] According to American Urological Association, the diagnosis of low testosterone can be supported when the total testosterone level is below 300 ng/dl. [12]
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
XY differences of sex development – Atypical androgen production or inadequate androgen response, which can cause incomplete masculinization in XY males. Varies from mild failure of masculinization with undescended testes to complete sex reversal and female phenotype (Androgen insensitivity syndrome) Swyer syndrome.