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Klinefelter syndrome has different manifestations and these will vary from one patient to another. Among the primary features are infertility and small, poorly functioning testicles. Often, symptoms may be subtle and many people do not realize they are affected.
This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present with atypical genitals. XX, Sex reversal: consist of two groups of patients with male phenotypes, the first with translocated Sex-determining region Y protein (SRY) and the second with no SRY gene.
Like women, males with Klinefelter syndrome also have two copies of the X chromosome, which may predispose them to increased risk of autoimmune disease through the same mechanism. [44] This risk is highest in autoimmune diseases which are female-predominant (e.g., Addison's disease, multiple sclerosis, Sjögren syndrome). [44]
Klinefelter’s syndrome occurs when a man is born with one or more extra X chromosomes, leading to a variety of impacts that include underdeveloped testicles, impaired testosterone production ...
DSDs caused by chromosomal variation generally do not present with genital ambiguity. This includes sex chromosome DSDs such as Klinefelter syndrome, Turner syndrome and 45,X or 46,XY gonadal dysgenesis. [14] Males with Klinefelter syndrome usually have a karyotype of 47,XXY as a result of having two or more X chromosomes. [15]
This results in the phenotype corresponding to the karyotype (46,XX for females and 46,XY for males). [5] Gonadal dysgenesis arises from a difference in signalling in this tightly regulated process during early foetal development. [6] [7] Manifestations of gonadal dysgenesis are dependent on the aetiology and severity of the underlying causes. [7]
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. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the genotype is normal but the phenotype is not.)
The existence of genes along the inactive X which are not silenced explains the defects in humans with atypical numbers of the X chromosome, such as Turner syndrome (X0, caused by SHOX gene [43]) or Klinefelter syndrome (XXY). Theoretically, X-inactivation should eliminate the differences in gene dosage between affected individuals and ...