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Turner syndrome ( TS ), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing an X chromosome ( sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. [ 2][ 6][ 7] Most people have ...
Maurice Parsonage. John Turner. Parsonage–Turner syndrome, also known as acute brachial neuropathy, neuralgic amyotrophy and abbreviated PTS, is a syndrome of unknown cause; although many specific risk factors have been identified (such as; post-operative, post-infectious, post-traumatic or post-vaccination), [ 4] the cause is still unknown.
May–Thurner syndrome ( MTS ), also known as the iliac vein compression syndrome, [ 1] is a condition in which compression of the common venous outflow tract of the left lower extremity may cause discomfort, swelling, pain or iliofemoral deep vein thrombosis . Specifically, the problem is due to left common iliac vein compression by the ...
Individuals with Turner syndrome may have short stature, dysmorphic features, gonadal dysgenesis, and delayed puberty. [5] Other signs and symptoms associated with HH consist of intellectual disability or learning difficulties and delayed puberty including amenorrhea and absent breast and pubic hair development.
Grey Turner's sign refers to bruising of the flanks, the part of the body between the last rib and the top of the hip. The bruising appears as a blue discoloration, [ 1] and is a sign of retroperitoneal hemorrhage, or bleeding behind the peritoneum, which is a lining of the abdominal cavity. Grey Turner's sign takes 24–48 hours to develop ...
Hypogonadism means diminished functional activity of the gonads —the testicles or the ovaries —that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen (e.g., estradiol) as hypoestrogenism. These are responsible for the observed signs and symptoms ...
Wilson-Turner syndrome ( WTS ), also known as mental retardation X linked syndromic 6 ( MRXS6 ), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. [1] It is found to be linked to the X chromosome and caused by a mutation ...
Turner syndrome is a condition in females in which there is partial or complete loss of one X chromosome. This causes symptoms such as growth and sexual development problems. In 15% of Turner syndrome patients, the structural abnormality is isochromosome X, which is composed of two copies of the q arm (i(Xq)).
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