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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
doaj +2 more sources
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
core +4 more sources
Combination of Klinefelter syndrome and celiac disease: A case report
Molecular Genetics and Metabolism Reports, 2017 Klinefelter syndrome (KS) is a chromosomal abnormality characterised by a 47, XXY karyotype associated with hypogonadism and infertility. We present a case of a 20-year-old patient who applied to our clinic because of growth deficiency and was ...
Ahmed Ramiz Baykan
doaj +2 more sources
Endocrinology Research and Practice, 2013 Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected.
Hande Peynirci, Erdinç Ertürk
doaj +2 more sources
Klinefelter Syndrome With Leg Ulcers
Indian Journal of Dermatology, 1999 Leg ulcers are frequently caused by venous insufficiency, arterial insufficiency, neuropathy, or a combination of these factors. Klinefelter syndrome in association with chronic leg ulcers have been reported earlier.
Narendra G +3 more
doaj +1 more source
Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome. [PDF]
Clin Endocrinol (Oxf)ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Axelle T +9 more
europepmc +2 more sources
Association of Parental Origin with Clinical Profile in Klinefelter Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the
Ranganath Vallabhajosyula +2 more
doaj +1 more source
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
A Newborn With Down-Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation. [PDF]
J Vitreoretin DisPurpose: To report a rare case of Down–Klinefelter syndrome associated with bilateral congenital posterior polar cataracts and a novel MAPKAPK3 gene mutation. Methods: A single case was reviewed.
Arias-González N +6 more
europepmc +2 more sources