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M-N Babinet, C Rigard, É Peyroux, A-R Dragomir, I Plotton, H Lejeune, C Demily
INTRODUCTION: The Klinefelter syndrome (KS) is a genetic condition characterized by an X supernumerary sex chromosome in males. The syndrome is frequently associated with cognitive impairment. Indeed, the different areas of the executive sphere can be affected such as inhibition, cognitive flexibility but also attentional and visual-spatial domain. Social cognition disorders, predominantly on emotional recognition processes, have also been documented. In addition, the syndrome may be associated with psychiatric symptoms...
October 12, 2016: L'Encéphale
Natascia Tahani, Gilda Ruga, Simona Granato, Matteo Spaziani, Francesca Panimolle, Antonella Anzuini, Andrea Lenzi, Antonio Francesco Radicioni
Klinefelter syndrome has been associated with thyroid abnormalities, the genesis of which is not yet fully clear. The aim of this study was to evaluate thyroid function in Klinefelter syndrome subjects during the pubertal period. Chemiluminescent microparticle immunoassay was used to analyze Thyroid-Stimulating Hormone, fT3 and fT4 concentration in serum samples from 40 Klinefelter syndrome pubertal boys with classic 47,XXY karyotype and 157 healthy age-matched controls. 13 Klinefelter syndrome patients also underwent Thyrotropin-Releasing Hormone testing to evaluate hypothalamic-pituitary function...
October 11, 2016: Endocrine
Leena Nahata, Richard N Yu, Laurie E Cohen
No abstract text is available yet for this article.
July 2016: Translational pediatrics
J Ky Ko, J Chai, V Cy Lee, R Hw Li, E Lau, K L Ho, P C Tam, W Sb Yeung, P C Ho, E Hy Ng
OBJECTIVE: There are currently no local data on the sperm retrieval and pregnancy rates in in-vitro fertilisation and testicular sperm extraction cycles, especially with regard to the presence of genetic abnormalities. This study aimed to determine the sperm retrieval and pregnancy rates in infertile couples who underwent in-vitro fertilisation and testicular sperm extraction for non-obstructive azoospermia. METHODS: This retrospective case series was conducted at a tertiary assisted reproduction unit in Hong Kong...
September 30, 2016: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
S V Andreieva, K V Korets, O A Kyselova, O E Ruzhinska, I M Serbin
AIM: Genetic inborn along with acquired diseases arise due to the lesions in genome of multipotent hematopoietic stem cells. The aim was to study an influence of constitutional anomaly, Klinefelter syndrome, and additional structural rearrangements on the BCR-ABL tyrosine kinase inhibitor targeted therapy efficacy. MATERIAL AND METHODS: We describe a 32-year-old male patient with chronic myeloid leukemia (CML) who was detected to have sex chromosomal abnormality during evaluation for Philadelphia chromosome...
September 2016: Experimental Oncology
H El Bardisi, A Majzoub, S Al Said, H Alnawasra, Z Dabbous, M Arafa
Klinefelter's syndrome (KS) is the most common chromosomal abnormality in men with infertility and hypogonadism. Although its influence on fertility has been extensively investigated, very few studies assessed the sexual function of patients with KS. Our aim was to assess the prevalence of sexual dysfunction in patients with KS and investigate possible aetiological factors for reported findings. Medical records of 53 patients with KS were retrospectively reviewed and compared to 75 age-matched control subjects who were prospectively recruited...
September 23, 2016: Andrologia
Meriem Baziz, Zohra Hamouli-Said, Ilham Ratbi, Mohamed Habel, Soukaina Guaoua, Aziza Sbiti, Abdelaziz Sefiani
BACKGROUND: In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyotype analysis in Algerian infertile men, using peripheral blood lymphocytes. METHODS: A cytogenetic study was conducted on 10 men from infertile couples by Karyotype analysis of R-banding performed by lymphocyte culture technique...
June 2016: Iranian Journal of Public Health
M Bonomi, V Rochira, D Pasquali, G Balercia, E A Jannini, A Ferlin
Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients' interindividual differences in terms of health status will result in a better management of this chromosomal disease...
September 19, 2016: Journal of Endocrinological Investigation
S Davis, N Lahlou, M Bardsley, M-C Temple, K Kowal, L Pyle, P Zeitler, J Ross
The most common sex chromosome aneuploidy, Klinefelter syndrome (KS), is associated with primary gonadal failure and increased morbidity and mortality from cardiometabolic disorders in adulthood. Children with KS also have a high prevalence of metabolic syndrome (MetS) features. To assess the relationship of gonadal and cardiometabolic function in children with KS, we evaluated serum hormones [gonadotropins, inhibin B (INHB), anti-mullerian hormone (AMH), total testosterone (TT)], and features of MetS (waist circumference, fasting lipid panel, fasting blood glucose (FBG), and blood pressure) in 93 pre-pubertal boys with KS age 4-12 years (mean 7...
September 16, 2016: Andrology
Amir R Hajrasouliha, Heather E Moss, Pejman J Maralani, Lawrence Kaufman, Michael A Grassi
PURPOSE: To present a case of a patient with XXXXY syndrome, anomalous optic nerves, and dural ectasia in conjunction with macular detachment. METHODS: Case report. RESULTS: A 3-year-old boy with XXXXY chromosomal abnormality presented with bilateral maculopathy. On evaluation, he was found to have anomalous optic disks with serous detachment of the left eye. Magnetic resonance imaging of the brain revealed bilateral optic nerve dural ectasia without evidence of elevated intracranial pressure...
September 8, 2016: Retinal Cases & Brief Reports
J Rohayem, E Nieschlag, M Zitzmann, S Kliesch
Patients with Klinefelter's syndrome experience progressive testicular degeneration resulting in impaired endocrine function and azoospermia. What proportion of adolescents develop testosterone deficiency during puberty and how many have spermatozoa in their semen is unclear to date. We aimed to investigate testicular function during puberty and young adulthood in patients with Klinefelter's syndrome and to assess testosterone effects in target tissues. The clinical data of 281 patients with non-mosaic Klinefelter's syndrome aged 10-25 years without previous testosterone replacement were reviewed...
September 9, 2016: Andrology
Robert Levine, Peter Vitruk
Vestibuloplasty involves a series of surgical procedures designed to restore alveolar ridge height by lowering the muscles attached to the buccal, labial, and lingual aspects of the jaws. The technique is indicated in cases of insufficient vestibular depth that may result from atrophy of the alveolar ridge and/or high attachment of muscle or movable mucosa. This article focuses on a carbon dioxide (CO2) laser vestibular extension procedure performed in a patient with Klinefelter syndrome, which is caused by a chromosomal abnormality...
September 2016: Compendium of Continuing Education in Dentistry
Lenka Pavlistova, Silvia Izakova, Zuzana Zemanova, Lucie Bartuskova, Martina Langova, Pavlina Malikova, Kyra Michalova
BACKGROUND: Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X;Y), giving rise to a derived chromosome with the centromeres of both the X and Y chromosomes, dic(X;Y). Here, we report a rare congenital chromosomal aberration, 46,X,dic(X;Y)(p22.33;p11.32)[20]/45,X[10], in an adult male. CASE PRESENTATION: Primary myelofibrosis, a malignant haematological disease, was diagnosed in a 63-year-old man following liver transplantation after hepatocellular carcinoma...
2016: Molecular Cytogenetics
Charles J Glueck, Vybhav Jetty, Naila Goldenberg, Parth Shah, Ping Wang
We compared thrombophilia and hypofibrinolysis in 6 men with Klinefelter syndrome (KS), without previously known familial thrombophilia, who had sustained deep venous thrombosis (DVT)-pulmonary emboli (PE) or mesenteric artery thrombosis on testosterone replacement therapy (TRT). After the diagnosis of KS, TRT had been started in the 6 men at ages 11, 12, 13, 13, 19, and 48 years. After starting TRT, DVT-PE or mesenteric artery thrombosis was developed in 6 months, 1, 11, 11, 12, and 49 years. Of the 6 men, 4 had high (>150%) factor VIII (177%, 192%, 263%, and 293%), 3 had high (>150%) factor XI (165%, 181%, and 193%), 1 was heterozygous for the factor V Leiden mutation, and 1 was heterozygous for the G20210A prothrombin gene mutation...
August 31, 2016: Clinical and Applied Thrombosis/hemostasis
Srinivasan Muthuswamy, Sarita Agarwal
BACKGROUND: Aneuploidy screening is becoming an integral part of routine prenatal screening in developing countries like India, and the need for more cheaper and rapid aneuploidy testing methods are required to relive the anxiety and financial burden among the high-risk couples. Segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR) emerged as an alternative aneuploidy diagnostic method. METHODS: This study was conducted to optimize and access the utility of SD-QF-PCR in routine prenatal diagnosis to complement existing short tandem repeats (STR) based QF-PCR...
August 31, 2016: Journal of Clinical Laboratory Analysis
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Virginia Mirra, Sergio Bernasconi
This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature...
August 27, 2016: Italian Journal of Pediatrics
Nathan M Shaw, Craig Stauffer, Michael L Eisenberg
OBJECTIVE: To report the finding and management of a case of Leydig cell tumor discovered during the infertility evaluation of a patient with mosaic Klinefelter syndrome. DESIGN: Single case report. SETTING: Academic hospital. PATIENT(S): Patient seeking assistance with fertility after a diagnosis of mosaic Klinefelter syndrome. INTERVENTION(S): The patient underwent microscopic testicular sperm extraction (mTESE) for sperm identification after the diagnosis of mosaic Klinefelter syndrome...
August 11, 2016: Fertility and Sterility
G A Akbarova
We undertook biochemical, hormonal, cytological analysis and sequencing CAG repetitions of androgen receptor gene in order to elucidate the cause of clinical polymorphism of Klinefelter syndrome. Elevated levels of LH (19.8 ± 4.2 E/l), FSH (22.7 ± 6.1 U/l), total cholesterol (6.8 ± 2.6 mmol/l), triglycerides (3.3 ± 1.0 mmol/l), and glucose (9.9 ± 3.8 mmol/l) suggested disturbances of lipid and carbohydrate metabolism. Two thirds of the patients had Klinfelter syndrome associated with mental retardation and psychic disorders...
2016: Klinicheskaia Meditsina
Kristina D Suson
In recent years, there has been increasing interest in transitional urology, or how to best prepare patients with major congenital urologic diseases, such as bladder exstrophy and neuropathic bladder, to manage their own health care with adult urologists. However, common pediatric urologic conditions may be encountered by the adult urologist with more regularity. This review focuses on three relatively common conditions which may be identified in childhood, the consequences from which a patient may seek help from an adult urologist: cryptorchidism, varicocele, and Klinefelter syndrome...
October 2016: Current Urology Reports
Darpan Dadheech, Prabha Om, Sharma Ankit Shridatt, Ankur Patni, Naveen Verma
Inguinal hernia in male is a common problem but having female reproductive organs in hernial sac is rare. It occur because of failure of mullerian duct to regress in a male fetus during embryonic development, result in a syndrome known as Persistent Mullerian Duct Syndrome (PMDS), which is a rare entity of male pseudohermaphroditism. We hereby present a case of 21-year-old male patient reported with complains of cryptorchidism and inguinal hernia. Generally diagnosis of PMDS was established during investigation like ultrasonography, MRI for localization of undescended testis and during surgical exploration for inguinal hernia or cryptorchidism...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
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