The classic TS phenotype includes short stature, gonadal dysgenesis with primary amenorrhea and hypergonadotropic hypogonadism, facial and body
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چکیده
The classic TS phenotype includes short stature, gonadal dysgenesis with primary amenorrhea and hypergonadotropic hypogonadism, facial and body dysmorphisms, skeletal abnormalities, cardiovascular and renal malformations, and predisposition to autoimmune diseases, such as thyroid diseases, diabetes mellitus, celiac disease, and vitiligo.21 Short stature is always present and is caused by several factors, such as Short Stature Homeobox (SHOX) haploinsufficiency and related skeletal dysplasia, intrauterine growth retardation, poor growth in early childhood, absence of the growth spurt, and skeletal dysplasia.21
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Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...
متن کاملBalanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to n...
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Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by...
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46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of sec...
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Hypoestrogenism is referred to lower than normal serum levels of estrogen. Hypoestrogenism can be regarded as typical and physiological in postmenopausal women. However, hypoestrogenism which oocurs in young women is related to pathological background. There are two groups of disorders in young women related to hypoestrogenism: hypogonadotropic hypogonadism and hypergonadotropic hypogonadism. H...
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