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
Epidemiology, genetics, and subtyping of preserved ratio impaired spirometry (PRISm) in COPDGene. [PDF]
, 2014 BackgroundPreserved Ratio Impaired Spirometry (PRISm), defined as a reduced FEV1 in the setting of a preserved FEV1/FVC ratio, is highly prevalent and is associated with increased respiratory symptoms, systemic inflammation, and mortality.
Beaty, Terri H +14 more
core +2 more sources
Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [PDF]
, 2017 Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown.
Ahmed, S. Faisal +12 more
core +7 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 +1 more source
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
core +2 more sources
Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men. [PDF]
, 2015 The aim of this study was to evaluate the frequency of humoral endocrine organ-specific autoimmunity in 47,XXY Klinefelter’s syndrome (KS) by investigating the autoantibody profile specific to type 1 diabetes (T1DM), Addison’s disease (AD), Hashimoto ...
ANZUINI, Antonella +7 more
core +1 more source
Tremor and Klinefelter’s Syndrome
Tremor and Other Hyperkinetic Movements, 2015 Background: Klinefelter’s syndrome (KS) has been associated with tremor, but reports on tremor phenomenology and treatment are limited. Case Reports: Patient 1 is a 17‐year‐old male with a dystonic tremor treated with deep brain stimulation (DBS).
Rabin, Marcie L. +2 more
openaire +5 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
core +1 more source
Rare 48, XYYY syndrome: case report and review of the literature
Clinical Case Reports, 2018 Key Clinical Message 48, XYYY syndrome is a rare condition. A male with 32‐year‐old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome.
Maryam Abedi +2 more
doaj +1 more source
Indian Journal of Endocrinology and Metabolism, 2012 48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders.
Prasad Katulanda +4 more
doaj +1 more source