Turner syndrome masquerading as normal early puberty

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Turner syndrome masquerading as normal early puberty

Approximately 50% of patients with Turner syndrome (TS) have complete loss of one X chromosome, whereas the rest of the patients with TS display mosaicism or structural abnormalities of the X chromosome. Most well-known common features are short stature and gonadal failure. Approximately one third of girls with TS may enter spontaneous puberty, but only half those completed with menarche. Howev...

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Spontaneous puberty in girls with early diagnosis of Turner syndrome.

OBJECTIVE To verify if the frequency of spontaneous pubertal development among girls with Turner syndrome (TS) diagnosed in infancy and childhood is greater than that of patients diagnosed later. SUBJECTS AND METHODS Thirty three girls aged < 10 years at the time of diagnosis were evaluated regarding pubertal development. The frequency of spontaneous puberty was compared with that of girls ag...

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Turner syndrome.

Introduction Approximately 1 in 2,500 live female births is affected by Turner syndrome (TS), making it one of the more common genetic conditions encountered in pediatric practice. TS is caused by deletion of all (monosomy) or part (partial monosomy) of the second sex chromosome. Multiple body systems can be affected to varying degrees, presenting both diagnostic and management challenges for t...

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Copper deficiency masquerading as myelodysplastic syndrome.

We describe a woman with severe neutropenia and dependency on red blood cell transfusions who had previously undergone Billroth II surgery and whose bone marrow (BM) showed morphologic characteristics typical of myelodysplastic syndrome (MDS) with ringed sideroblasts. She had transient reversal of anemia and severe neutropenia after therapy with erythropoietin and granulocyte colony-stimulating...

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Turner syndrome

Turner's syndrome is a genetic disorder that affects only females. Turner syndrome is caused by a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually only have 45. This condition occurs in about 1 out in 2,500 female live births worldwide (but it is much more common among miscarriages and s...

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ژورنال

عنوان ژورنال: Annals of Pediatric Endocrinology & Metabolism

سال: 2014

ISSN: 2287-1012,2287-1292

DOI: 10.6065/apem.2014.19.4.225