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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 .
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 ejaculatory duct , but ...
Mixed gonadal dysgenesis, also known as X0/XY mosaicism or partial gonadal dysgenesis, [21] is a sex development difference associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. [14] Mixed gonadal dysgenesis is the presence of two or more germ line cells. [23]
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2]
Gonadal dysgenesis – any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. Herlyn-Werner-Wunderlich syndrome – a disorder where the Müllerian ducts fail to fuse during embryonic development.
46, XY gonadal dysgenesis, also known as Swyer syndrome 46, XX male syndrome , also known as de la Chapelle syndrome In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell.
Mixed gonadal dysgenesis (45,XO/46,XY karyotype) Tetragametic chimerism (46,XX/46,XY karyotype) Androgen biosynthetic dysfunction in 46,XY individuals: Luteinizing hormone (LH) receptor mutations; Smith–Lemli–Opitz syndrome (associated with intellectual disability) Lipoid congenital adrenal hyperplasia; 3β-hydroxysteroid dehydrogenase 2 ...
Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation.Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). [1]