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Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal disorder in which 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.
Because of its similarities to deep vein thrombosis (DVT), May–Thurner syndrome is rarely diagnosed amongst the general population. In this condition, the right iliac artery sequesters and compresses the left common iliac vein against the lumbar section of the spine, [5] resulting in swelling of the legs and ankles, pain, tingling, and/or numbness in the legs and feet. [6]
This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. [5] Those with Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied, and in advanced cases, paralyzed. Occasionally, there will be no pain and just paralysis, and ...
Turner syndrome is usually not diagnosed until a delayed onset of puberty with Müllerian structures found to be in infantile stage. [4] Physical phenotypic characteristics include short stature, dysmorphic features and lymphedema at birth. [23] Comorbidities include heart defects, vision and hearing problems, diabetes, and low thyroid hormone ...
Firstly, the word 'disorder' carries negative connotations. Secondly, with current nomenclature, DSD is an overly generalised term for conditions that do not have differences in genital appearance or gender identity (e.g. Klinefelter syndrome and Turner syndrome). Thirdly, the term 'DSD' lacks specificity and clarity; and therefore unhelpful in ...
Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [14] [34] [35]
Preductal coarctation results when an intracardiac anomaly during fetal life decreases blood flow through the left side of the heart, leading to hypoplastic development of the aorta. This is the type seen in approximately 5% of infants with Turner syndrome. [4] [5] Ductal coarctation: The narrowing occurs at the insertion of the ductus arteriosus.
There is a much higher rate of thyroid disorders, the most common of which is hypothyroidism, in individuals with Down syndrome [30] [62] and Turner syndrome. [30] Very severe hypothyroidism and myxedema coma are rare, with it estimated to occur in 0.22 per million people a year. [19]