Unusual presentation of Klinefelter syndrome
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چکیده
منابع مشابه
The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation.
Multiple pterygium syndrome is characterized by a number of phenotypic features, small stature, webbing of the neck, elbows, and/or knees, and joint contractures. In this report, we present an 11-year-old boy who had the classical findings of multiple pterygium syndrome, and his chromosomal analysis revealed a 47,XXY karyotype. Interestingly, he did not show any of the main clinical signs of Kl...
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Abstract A 26 -year- old woman presented with rhabdomyolysis secondary to severe hypokalemia. Hypertension and metabolic alkalosis could lead to the suspicion of primary aldosteronism, which was confirmed by a decreased plasma rennin, elevated plasma aldosterone levels and high aldosterone/rennin ratio additionally. Additionally adrenal computed tomography showed an adrenal tumour. Blood press...
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Introduction The relationship between endocrinology and psychiatry has attracted a good deal of attention of health professionals for obvious reasons. Endocrine disorders may some time be accompanied by prominent mental abnormalities. In most of the cases psychiatric abnormalities follows the manifestation of endocrine disorder though occassionally, individuals react in such a way that psychiat...
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Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Synd...
متن کاملKlinefelter syndrome: an unusual diagnosis in pediatric patients.
OBJECTIVE To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group. METHODS The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at fir...
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ژورنال
عنوان ژورنال: Indian Journal of Endocrinology and Metabolism
سال: 2013
ISSN: 2230-8210
DOI: 10.4103/2230-8210.123567