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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.
Turner syndrome was first described independently by Otto Ulrich in 1930 and Henry Turner in 1938. [ 29 ] 46,XX pure gonadal dysgenesis was first reported in 1960. [ 29 ] 46,XY pure gonadal dysgenesis, also known as Swyer syndrome, was first described by Gim Swyer in 1955.
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 ...
Swyer syndrome (Pure Gonadal Dysgenesis or XY gonadal dysgenesis) – a type of hypogonadism in a person whose karyotype is 46,XY. The person is externally female with streak gonads , and left untreated, will not experience puberty .
Swyer–James syndrome (SJS), also called Swyer–James–MacLeod syndrome, is a rare disease of the lungs, characterized by a small lung or part of lung. [1] Typical symptoms are of recurrent respiratory tract infections , but some have no symptoms.
Some intersex variations are associated with an increased risk of cancer. Men with Klinefelter syndrome, especially, those with mosaicism, are at a higher risk of breast cancer mortality than endosex men. [36] Those with Swyer syndrome are at an increased risk of developing cancer, specifically germ cell tumors, if atypical gonads are not removed.
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 ...
People with XX male syndrome have a XX Karyotype but are male. [22] Individuals with either of these syndromes can experience delayed puberty, infertility, and growth features of the opposite sex they identify with. XX male syndrome expressers may develop breasts, and those with Swyer syndrome may have facial hair. [21] [23]