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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 .
Gonadal development is a process, which is primarily controlled genetically by the chromosomal sex (XX or XY), which directs the formation of the gonad (ovary or testicle). [4] Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. [5]
The condition also occurs in XY males, as they suffer from the effects of low cortisol and salt-wasting, not virilization. Persistent Müllerian duct syndrome – A rare type of pseudohermaphroditism that occurs in 46 XY males, caused by either a mutation in the Müllerian inhibiting substance (MIS) gene, on 19p13, or its type II receptor ...
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 ...
Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC), [2] [3] are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. [4]
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.
With the determination of an XY karyotype and normal SRY, the differential diagnosis of 46,XY DSD is made with endocrinological measurements of T/DHT ratios [15] (which indicate 5αR2 activity) and precise anatomical imaging since 5αR2D can be difficult to distinguish from other causes of 46,XY DSD (e.g., partial androgen insensitivity ...
Sexual differentiation is the process of development of the sex differences between males and females from an undifferentiated zygote. [1] [2] Sex determination is often distinct from sex differentiation; sex determination is the designation for the development stage towards either male or female, while sex differentiation is the pathway towards the development of the phenotype.