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    Reproductive Disorders:

 

Pure Gonadal Dystrophy ( MIM: 400044)

Pure /complete gonadal dysgenesis, XY gonadal dysgenesis or Swyer syndrome is 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. The term “pure gonadal dysgenesis” has been used to describe conditions with normal sets of sex chromosomes as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. Patients with PGD have a normal karyotype but may have mutations in SF1, SRY, DH1 and NR5A1 genes. Presently, the database contains information for the first three genes. While SRY related PGD is Y-linked, DHH related on is X-linked and that with SF1 is autosomal recessive.

Androgen insensitivity syndrome ( MIM: 300068)

 Androgen insensitivity syndrome is X-linked recessive disorder in which affected males have typical female phenotype in spite of normal male 46,XY karyotype. Mutations in the androgen receptor gene AR ( MIM: 313700), mapped to chromosome Xq, is responsible for this disorder.