keyword
MENU ▼
Read by QxMD icon Read
search

klinefelter's syndrome

keyword
https://www.readbyqxmd.com/read/28902077/hematopoietic-stem-cell-transplantation-for-myelodysplastic-syndrome-in-a-child-with-klinefelter-syndrome
#1
Esra Serdaroğlu, Baris Kuskonmaz, Yasemin Alanay, Selin Aytac, Mualla Cetin, Duygu U Cetinkaya
No abstract text is available yet for this article.
September 8, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28895703/-double-aneuploidy-klinefelter-and-edwards-syndromes-48-xxy-18-case-report
#2
Mailén Costa, Silvia Ávila
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28883919/a-case-of-klinefelter-syndrome-with-hypersexual-desire
#3
Kingsley Okolie, Sumathy Perampalam, Anthony Barker, Christopher J Nolan
Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency and infertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to its classical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism including infertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28854582/incidence-prevalence-diagnostic-delay-morbidity-mortality-and-socioeconomic-status-in-males-with-46-xx-disorders-of-sex-development-a-nationwide-study
#4
A Berglund, T H Johannsen, K Stochholm, L Aksglaede, J Fedder, M H Viuff, K M Main, C H Gravholt
STUDY QUESTION: What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? SUMMARY ANSWER: 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inferior on outcome parameters such as education and long-term income. WHAT IS KNOWN ALREADY: 46,XX DSD males are rare and estimates of prevalence and incidence are limited...
August 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#5
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28801929/validation-and-application-of-a-novel-integrated-genetic-screening-method-to-a-cohort-of-1-112-men-with-idiopathic-azoospermia-or-severe-oligozoospermia
#6
Manon S Oud, Liliana Ramos, Moira K O'Bryan, Robert I McLachlan, Özlem Okutman, Stephane Viville, Petra F de Vries, Dominique F C M Smeets, Dorien Lugtenberg, Jayne Y Hehir-Kwa, Christian Gilissen, Maartje van de Vorst, Lisenka E L M Vissers, Alexander Hoischen, Aukje M Meijerink, Kathrin Fleischer, Joris A Veltman, Michiel J Noordam
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. Here, we describe a novel method using single molecule Molecular Inversion Probes (smMIPs), to screen infertile men for mutations and copy number variations affecting known disease genes. We designed a set of 4,525 smMIPs targeting the coding regions of causal (n = 6) and candidate (n = 101) male infertility genes. After extensive validation, we screened 1,112 idiopathic infertile men with non-obstructive azoospermia or severe oligozoospermia...
August 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28782868/klinefelter-s-syndrome-and-sexual-offending-a-literature-review
#7
Rebecca O'Donovan, Birgit Völlm
BACKGROUND: Klinefelter's syndrome is a sex chromosome abnormality affecting approximately 1 in 1000 men. There have been suggestions that it is associated with a higher than average prevalence of sexual offending but to what extent does research evidence support this assertion? AIMS: This study aimed to conduct a systematic review of published research to establish the prevalence of sexual offending in men with Klinefelter's syndrome. METHOD: The databases MEDLINE, PsycINFO and EMBASE were searched from inception until 31 December 2016 by using a range of terms for Klinefelter's syndrome and for sexual offending...
August 7, 2017: Criminal Behaviour and Mental Health: CBMH
https://www.readbyqxmd.com/read/28766502/transient-neonatal-diabetes-due-to-a-mutation-in-kcnj11-in-a-child-with-klinefelter-syndrome
#8
Amanda Dahl, Radhika Dhamija, Alaa Al Nofal, Siobhan Pittock, Frederick Schwenk, Seema Kumar
Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic heterozygous variant in KCNJ11 in a male infant with Klinefelter syndrome. A 78 day old male infant was noted to have sustained hyperglycemia with serum glucose ranging between 148 mg/dL (8...
August 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28739462/suprageniculate-approach-to-release-of-popliteal-entrapment-without-distal-bypass-despite-preoperative-runoff-thrombosis
#9
Aamna M Ali, Christopher R Ramos, Natalia O Glebova
BACKGROUND: Popliteal artery entrapment syndrome is an uncommon condition in which anatomic or functional popliteal artery compression causes arterial insufficiency. We present a case of popliteal entrapment with runoff thrombosis treated with suprageniculate release of entrapment without distal bypass. RESULTS: A 15-year old boy with Klinefelter syndrome presented with right leg claudication severely limiting his activity. He had a palpable femoral pulse, but no palpable popliteal or foot pulses on the right...
July 21, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28726803/quality-of-life-in-men-with-klinefelter-syndrome-the-impact-of-genotype-health-socioeconomics-and-sexual-function
#10
Anne Skakkebæk, Philip J Moore, Simon Chang, Jens Fedder, Claus H Gravholt
PurposeKlinefelter syndrome (KS) is associated with lower socioeconomic status and greater morbidity. However, relatively little is known about the quality of life for men with KS, or how KS and other factors combine to determine it.MethodsA total of 132 men with KS were recruited in clinics, and 313 matched controls were identified by Statistics Denmark. Demographics, socioeconomic status, health problems and behaviors, sexual function, medical follow-up, and mental and physical quality of life (MQoL and PQoL, respectively) were assessed for all participants through surveys...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726283/vocal-and-gestural-productions-of-24-month-old-children-with-sex-chromosome-trisomies
#11
Laura Zampini, Lara Draghi, Gaia Silibello, Francesca Dall'Ara, Claudia Rigamonti, Chiara Suttora, Paola Zanchi, Nicoletta Salerni, Faustina Lalatta, Paola Vizziello
BACKGROUND: Children with sex chromosome trisomies (SCT) frequently show problems in language development. However, a clear description of the communicative patterns of these children is still lacking. AIMS: To describe the first stages of language development in children with SCT in comparison with those in typically developing (TD) children. The purpose was to verify the existence of possible differences in communicative skills (in both vocal and gestural modality) and identify the presence of possible early predictors (i...
July 20, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28696129/gender-dysphoria-in-klinefelter-s-syndrome-three-cases
#12
Gordon W Davies, John Parkinson
BACKGROUND: Previous reports have found the incidence of gender dysphoria in Klinefelter's patients greater than in the general male population. METHODS: A cohort of patients with gender dysphoria was reviewed. RESULTS: Of the 220 patients with gender dysphoria, three had Klinefelter's syndrome. CONCLUSIONS: These three reports are further examples of gender dysphoria in Klinefelter's syndrome. The role of biological factors in gender identity is affirmed...
July 1, 2017: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/28693116/long-term-follow-up-of-a-child-with-klinefelter-syndrome-and-achondroplasia-from-infancy-to-16-years
#13
Jessica D Arditi, Loretta Thomaidis, Helen Frysira, Artemis Doulgeraki, George P Chrousos, Christina Kanaka-Gantenbein
BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28691621/klinefelter-syndrome
#14
REVIEW
Doreen Crawford, Annette Dearmun
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. However, this may be due to increasing awareness, reflective of the sophistication of the methods to diagnose.
July 10, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/28685873/three-cases-of-klinefelter-s-syndrome-with-unilateral-absence-of-vas-deferens
#15
E C Akinsal, N Baydilli, H Imamoglu, O Ekmekcioglu
Genital abnormalities such as congenital uni/bilateral absence of the vas deferens are very rare in Klinefelter's syndrome. Here, we report three cases of Klinefelter's syndrome with unilateral absence of the vas deferens. All cases had small testicles, and unilateral vas deferentia were not palpable. Hormonal evaluations revealed hypergonadotropism. One case had elevated prolactin level, and pituitary adenoma was detected by magnetic resonance imaging. All cases were diagnosed as Klinefelter's syndrome (one of them had mosaicism) cytogenetically, and some CFTR gene mutations were detected...
July 7, 2017: Andrologia
https://www.readbyqxmd.com/read/28675185/an-enigmatic-trio-of-klinefelter-s-syndrome-autoimmune-hypothyroidism-and-nephrotic-syndrome
#16
A Rao, D Jain, H K Aggarwal, P Jain
Klinefelter's syndrome is the most common chromosomal disorder associated with testicular dysfunction and male infertility. Those affected by Klinefelter's syndrome are at increased risk of systemic lupus erythematosus, breast cancer, non-Hodgkin's lymphoma, and lung cancer. Nephrotic syndrome in association with Klinefelter's syndrome has never been reported in the literature.
June 2017: Journal of the Royal College of Physicians of Edinburgh
https://www.readbyqxmd.com/read/28672740/long-term-follow-up-of-a-child-with-klinefelter-syndrome-and-achondroplasia-from-infancy-to-16-years
#17
Jessica D Arditi, Loretta Thomaidis, Helen Frysira, Artemis Doulgeraki, George P Chrousos, Christina Kanaka-Gantenbein
BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood...
July 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28670430/sperm-retrieval-in-patients-with-klinefelter-syndrome-a-skewed-regression-model-analysis
#18
Mohammad Chehrazi, Abbas Rahimiforoushani, Marjan Sabbaghian, Keramat Nourijelyani, Mohammad Ali Sadighi Gilani, Mostafa Hoseini, Samira Vesali, Mehdi Yaseri, Ahad Alizadeh, Kazem Mohammad, Reza Omani Samani
BACKGROUND: The most common chromosomal abnormality due to non-obstructive azoospermia (NOA) is Klinefelter syndrome (KS) which occurs in 1-1.72 out of 500-1000 male infants. The probability of retrieving sperm as the outcome could be asymmetrically different between patients with and without KS, therefore logistic regression analysis is not a well-qualified test for this type of data. This study has been designed to evaluate skewed regression model analysis for data collected from microsurgical testicular sperm extraction (micro-TESE) among azoospermic patients with and without non-mosaic KS syndrome...
July 2017: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/28668215/-social-cognition-in-children-with-neurogenetic-syndromes-a-literature-review
#19
A Morel, C Demily
Social cognitive impairments may largely contribute to reduced social skills and adaptive problems in individuals with microdeletion syndromes associated with behavioral and psychiatric phenotypes. Understanding the role of social information processing deficits in the emergence of psychotic disorders is a crucial challenge in the management of these patients. Each neurogenetic disorder is characterized by a specific social cognition phenotype. Clarifying the social ability profile of each population may help adjust patient care according to their key strengths and weaknesses...
June 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28647951/complexities-of-care-in-klinefelter-syndrome-an-aprn-perspective
#20
Sharron Close, Amy Talboy, Ilene Fennoy
47,XXY (Klinefelter Syndrome) is associated with a spectrum of complex clinical needs that are associated with variable physical, neurocognitive and psychosocial aspects. For patients and families affected by this sex chromosome trisomy, navigation of health care services is difficult due to lack of 47,XXY awareness among many health care providers and little evidence to support endocrine and additional treatment plans. While endocrine management of androgen deficiency has been the mainstay of treatment for patients from puberty through adulthood, testosterone replacement, alone, fails to mitigate many symptoms and issues...
June 2017: Pediatric Endocrinology Reviews: PER
keyword
keyword
104281
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"