Results 11 to 20 of about 14,603 (207)
Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association [PDF]
BMC Pediatrics, 2012 Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized.
Ros-Pérez Purificación +5 more
doaj +5 more sources
A rare presentation of the Klinefelter's syndrome [PDF]
, 2003 A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank +23 more
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The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature [PDF]
, 2019 open access ...
Cheetham, Tim +8 more
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Endocrine Connections, 2023 The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12–14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We
Claus H Gravholt +9 more
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Osteoporosis in Klinefelter's syndrome [PDF]
Molecular Human Reproduction, 2010 Hypogonadism represents one of the most important causes of male osteoporosis. Testosterone regulates male bone metabolism both indirectly by aromatization to estrogens and directly through the androgen receptor (AR) on osteoblasts, promoting periosteal bone formation during puberty and reducing bone resorption during adult life.
FERLIN, ALBERTO +4 more
openaire +4 more sources
Endocrine and metabolic evaluation of classic Klinefelter syndrome and high-grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions? [PDF]
, 2018 Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy in males. As well as classic KS, less frequent higher-grade aneuploidies (HGAs) are also possible.
Anzuini, Antonella +7 more
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Beyond the literal meaning of words in children with klinefelter syndrome: two case studies [PDF]
, 2018 Literature on children with Klinefelter Syndrome (KS) points to general linguistic difficulties in both comprehension and production among other cognitive functions, and in the majority of cases, these coexist with an intellectual level within the norms.
Melogno, Sergio +3 more
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Unusual presentation of Klinefelter syndrome
Indian Journal of Endocrinology and Metabolism, 2013 Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele.
Chanchal Das +4 more
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Nursing Children and Young People, 2017 Klinefelter syndrome, affecting males, is a collection of characteristics that occurs as a result of two or more X chromosomes. The syndrome was named after Harry Klinefelter, an American endocrinologist, and is common - occurring in all races. It is thought that one male in every 500 live births is affected and the incidence is rising.
Doreen, Crawford, Annette, Dearmun
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A novel stepwise micro-TESE approach in non obstructive azoospermia [PDF]
, 2016 Background: The purpose of the study was to investigate whether micro-TESE can improve sperm retrieval rate (SRR) compared to conventional single TESE biopsy on the same testicle or to contralateral multiple TESE, by employing a novel stepwise micro ...
Casciani, V +9 more
core +2 more sources