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Yang Yu, Qi Xi, Jili Jing, Linlin Li, Hongguo Zhang, Ruizhi Liu, Yuan Pan
Objective To report a case of abortion after intracytoplasmic sperm injection (ICSI) with ejaculated spermatozoa obtained from a man with mosaic Klinefelter's syndrome. Methods Sperm nuclei from the patient were analyzed by fluorescence in situ hybridization, and the disomy frequencies for chromosome 18 and the sex chromosomes were determined. A literature review of the ICSI outcome of ejaculated sperm in patients with Klinefelter's syndrome was also performed. Results A total of 108 spermatozoa nuclei were analyzed...
July 30, 2018: Journal of International Medical Research
Veerle Vloeberghs, Greta Verheyen, Samuel Santos-Ribeiro, Catherine Staessen, Willem Verpoest, Inge Gies, Herman Tournaye
BACKGROUND: Multidisciplinary management of Klinefelter cases is now considered good clinical practice in order to ensure optimal quality of life. Reproductive performance of Klinefelter men is an important issue however literature in this domain is limited and prone to bias. STUDY DESIGN: This was a retrospective longitudinal cohort study performed at a tertiary referral University Centre for Reproductive Medicine and Genetics. One hundred thirty-eight non-mosaic azoospermic Klinefelter patients undergoing their first testicular biopsy (TESE) between 1994 and 2013, followed by intracytoplasmic sperm injection (ICSI) with fresh or frozen-thawed testicular sperm in the female partner, were followed-up longitudinally...
2018: PloS One
Sophie van Rijn
BACKGROUND: Approximately 1 in 650 boys are born with an extra X chromosome. Boys and men with 47,XXY (Klinefelter syndrome) are at risk for neurodevelopmental disorders and specific cognitive impairments. This study was focused on social anxiety and social cognition. The aim was to assess if these aspects of the phenotype are related to testosterone deficiency, which is typically seen in 47,XXY from puberty onwards. METHODS: In the study 20 boys with 47,XXY and 25 non-clinical controls between 8 and 19 years participated...
2018: PloS One
L Heinz, E Bourrat, P Vabres, J Thevenon, A Hotz, S Hörer, J Küsel, A D Zimmer, S Alter, R Happle, J Fischer
Focal dermal hypoplasia (FDH, Goltz syndrome, MIM: #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X-linked dominant trait and is caused by mutations in PORCN. In males, hemizygous PORCN mutations are lethal in utero. Around 300 cases have been reported in the literature to date. About 10% of them are males presenting either Klinefelter syndrome (karyotype 47, XXY) or mosaicism of a postzygotic mutation...
July 19, 2018: British Journal of Dermatology
Fahimeh Abdollahimajd, Minoo Fallahi, Mohammad Kazemian, Yalda Nilipour, Mitra Radfar, Sedigheh Tahereh Tehranchi
Incontinentia pigmenti (IP) is an X-linked dominant neurocutaneous syndrome with ophthalmologic, neurologic, cutaneous, and dental manifestations and in most cases antenatally lethal in boys. Occasionally, typical IP may occur in boys due to Klinefelter syndrome or a genomic mosaicism. Skin lesions are observed in 4 stages: blistering, verrucous linear plaques, swirling macular hyperpigmentation, followed by linear hypopigmentation that develop during adolescence and early adulthood. Neonatal herpes simplex virus (HSV) infection can be manifested in 3 forms: localized, disseminated, and central nervous system (CNS) involvement...
2018: Case Reports in Pediatrics
Inas M Mazen, Mona K Mekkawy, Hanan M Ibrahim, Alaa K Kamel, Rasha T Hamza, Aya A Elaidy
Disorders of sex development (DSD) are conditions with an abnormal development of chromosomal, gonadal, or anatomical sex. Sex chromosome DSD involve conditions associated with either numerical or structural abnormalities of the sex chromosomes. This study included patients comprising a wide spectrum of presenting features suggestive of DSD and aimed at studying the frequency of sex chromosome abnormalities among 108 Egyptian DSD patients who presented to the Clinical Genetics and Endocrinology Clinics, National Research Centre (NRC) over the 2-year period of 2013 and 2014...
July 14, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Ryan K Harrison, Teresa DiMeo, Ryan D Klinefelter, Michael E Ruff, Hisham M Awan
We evaluated postoperative pain control and narcotic usage after thumb carpometacarpal (CMC) arthroplasty or open reduction and internal fixation (ORIF) of the distal radius in patients given opiates with or without other non-opiate medication using a specific dosing regimen. A prospective, randomized study of 79 patients undergoing elective CMC arthroplasty or ORIF of the distal radius evaluated postoperative pain in the first 5 postoperative days. Patients were divided into 4 groups: Group 1, oxycodone and acetaminophen PRN; Group 2, oxycodone and acetaminophen with specific dosing; Group 3, oxycodone, acetaminophen, and OxyContin with specific dosing; and Group 4, oxycodone, acetaminophen, and ketorolac with specific dosing...
June 2018: American Journal of Orthopedics
Ute Thyen, Till Ittermann, Steffen Flessa, Holger Muehlan, Wiebke Birnbaum, Marion Rapp, Louise Marshall, Maria Szarras-Capnik, Claire Bouvattier, Baudewijntje P C Kreukels, Anna Nordenstroem, Robert Roehle, Birgit Koehler
BACKGROUND: To investigate the association between the structural quality of care and patient satisfaction with care in individuals with disorders/ differences of sex development (DSD). METHODS: A multicenter cross-sectional comparative study was conducted in 14 clinics in six European countries. We assessed the level of structural quality of care in each center using a self-constructed measure (Center Score) and the level of participant satisfaction with care using the customer satisfaction questionnaire (CSQ-4) and an adopted version of the Youth Health Care - Satisfaction, Utilization & Needs (YHC-SUN-SF)...
July 5, 2018: BMC Health Services Research
Vito Angelo Giagulli, Beatrice Capone, Marco Castellana, Ciro Salzano, Alessandra Fisher, Cristina de Angelis, Rosario Pivonello, Annamaria Colao, Daniela Pasquali, Mario Maggi, Vincenzo Triggiani
BACKGROUND AND OBJECTIVE: Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy (47,XXY) and cause of male hypergonadotropic hypogonadism. It is characterized by an extreme clinical heterogeneity in presentation, including infertility, hypogonadism, language delay, metabolic comorbidities, and neurocognitive and psychiatric disorders. Since testosterone is known to have organizational, neurotrophic and neuroprotective effects on brain, the condition of primary hypogonadism could play a role...
July 3, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
Mauro Bozzola, Elena Bozzola, Chiara Montalbano, Filomena Andreina Stamati, Pietro Ferrara, Alberto Villani
Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal maturation. A family history of the subject comprising the timing of puberty in the parents and physical examination may provide clues regarding the cause of DP. Delayed onset of puberty is rarely considered a disease in either sex. In fact, DP usually represents a common normal variant in pubertal timing, with favorable outcomes for final height and future reproductive capacity...
June 2018: Annals of Pediatric Endocrinology & Metabolism
Éva Pinti, Anna Lengyel, Ágnes Sallai, György Fekete, Irén Haltrich
INTRODUCTION: Early diagnosis of sex chromosome abnormalities is important because of prevention, family planning and optimal therapy. AIM: Investigation of the relationship between phenotype, age at time of diagnosis and therapeutic options in sex chromosome aberrations. METHOD: Processing data of 51 children with sex chromosome abnormalities who were diagnosed between 2009 and 2014 and examined at the 2nd. Department of Pediatrics, Semmelweis University, by the methods of anamnesis, family tree analysis, physical examination, karyotype analysis and fluorescent in situ hybridisation...
July 2018: Orvosi Hetilap
M Smith, A Nicoll
BACKGROUND: Short foetal femur length (FL) is a normal variant but may also be a marker for disorders such as skeletal dysplasia, Trisomy 21 (T21), Turners syndrome, congenital infection (TORCH) and foetal growth restriction (FGR). AIM: Our aim was to review outcomes in our population following a diagnosis of isolated short FL (FL <5th centile) when detected at the time of mid trimester foetal anomaly scan (FAS). METHODS: All women within NHS Tayside who attended for routine mid trimester foetal anomaly scan at 18-21 weeks gestation (Range = 18+2 -21+3  weeks) between November 2011 and June 2016 were included...
July 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Edward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, Gozde T Akgumus, Ingo Helbig, Jennifer M Tarpinian, Beth A Keena, Maria G Vogiatzi, Elaine H Zackai, Kosuke Izumi, Shavonne L Massey, Ahmad N Abou Tayoun
Heterozygous de novo or inherited pathogenic variants in the PCDH19 gene cause a spectrum of neurodevelopmental features including developmental delay and seizures. PCDH19 epilepsy was previously known as "epilepsy and mental retardation limited to females", since the condition almost exclusively affects females. It is hypothesized that the co-existence of two populations of neurons, some with and some without PCDH19 protein expression, results in pathologically abnormal interactions between these neurons, a mechanism also referred to as cellular interference...
September 2018: Epilepsy Research
M W Ragab, J-F Cremers, M Zitzmann, E Nieschlag, S Kliesch, J Rohayem
Klinefelter syndrome (KS) and undescended testes (UDT) are known etiologies for non-obstructive azoospermia (NOA), and coexistence of both etiologies is not uncommon. Patients with both KS and a history of UDT are therefore considered to have extremely reduced chances for paternity. We aimed to analyze the impact of previous surgically corrected unilateral or bilateral UDT on sperm retrieval rates (SRRs) by microsurgical testicular sperm extraction (mTESE) in azoospermic men with KS. Age, testicular volumes, and hypothalamo-pituitary-gonadal axis function were investigated in relation to SRRs in 29 non-mosaic KS patients (47,XXY) with a history of UDT (group 1) who underwent mTESE between 2008 and 2016 in our center and compared to the data of age- and serum testosterone-matched non-mosaic KS controls with eutopic testes at birth (group 2), and to those of 51 men with NOA and a normal male karyotype (46,XY), but previous UDT (group 3)...
June 21, 2018: Andrology
Shanlee M Davis, Najiba Lahlou, Matthew Cox-Martin, Karen Kowal, Philip S Zeitler, Judith L Ross
Context: Klinefelter syndrome (KS) is a common genetic condition in which males have an extra X chromosome. KS is associated with testosterone deficiency, neurodevelopmental delays, and cardiometabolic disorders. There has been recent interest in prepubertal androgen treatment, however the effects on puberty and gonadal function are unknown. Objective: To compare onset of puberty and testicular function in pre-pubertal boys treated with two years of oxandrolone versus placebo...
June 20, 2018: Journal of Clinical Endocrinology and Metabolism
Sean C Skeldon, Bruce Carleton, James M Brophy, Mohit Sodhi, Mahyar Etminan
OBJECTIVE: Case reports have suggested an increased risk of gynecomastia with HMG-CoA reductase inhibitors (ie, statins). A recent meta-analysis also found that statins decrease circulating testosterone levels in men. We investigated whether statin use was associated with an increased risk of gynecomastia. DESIGN: Case-control study. PATIENTS: A cohort of patients from a random sample of 9 053 240 US subjects from the PharMetrics Plus™ health claims database from 2006 to 2016 was created...
June 19, 2018: Clinical Endocrinology
T H Johannsen, K M Main, M L Ljubicic, T K Jensen, H R Andersen, M S Andersen, J H Petersen, A-M Andersson, A Juul
CONTEXT: The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exists on sex-specific reference ranges for these hormones during early life. OBJECTIVE: To evaluate sex-differences in reproductive hormone concentrations in serum from healthy infants in order to define sex-specific cut-off values and to apply these in infants with DSD...
June 15, 2018: Journal of Clinical Endocrinology and Metabolism
Rosa Fernández, Antonio Guillamón, Esther Gómez-Gil, Isabel Esteva, Mari Cruz Almaraz, Joselyn Cortés-Cortés, Beatriz Lamas, Estefanía Lema, Eduardo Pásaro
Gender Dysphoria is characterized by a marked incongruence between the cerebral sex and biological sex. To investigate the possible influence of karyotype on the etiology of Gender Dysphoria we carried out the cytogenetic analysis of karyotypes in 444 male-to-females (MtFs) and 273 female-to-males (FtMs) that attended the Gender Identity Units of Barcelona and Málaga (Spain) between 2000 and 2016. The karyotypes from 23 subjects (18 MtFs and 5 FtMs) were also analysed by Affymetrix CytoScan™ high-density (HD) arrays...
May 2018: Genes & Genomics
Nathalie Rives, Aurélie Rives, Christine Rondanino, Mireille Castanet, Ariane Cuny, Louis Sibert
Spermatozoa have occasionally been identified in ejaculate of adult Klinefelter syndrome (KS) patients but very exceptionally in KS adolescents. Spermatozoa can also be retrieved in testicular tissue of KS adolescents. The testis may also harbor spermatogonia and noncompletely differentiated germ cells. Neither clinical features nor hormonal parameters could predict germ cell recovery in KS adults or adolescents. No predictive factors can actually demonstrate that early diagnosis of KS would allow increasing the chance of sperm retrieval even if it has been suggested that semen quality may decline with age in KS patients...
2018: Endocrine Development
Ahmed Abulwefa, Hrvoje Brkić, Zvonimir Kaić
Objective: To investigate the eruption angle of maxillary canine in patients with Klinefelter syndrome (KS) in which high prevalence of palatally displaced canine anomaly (PDC) has been found by clinical assessment. Subjects and Methods: The sample consisted of 37 KS males aged 20-34 years (mean 27 years) and the control group which consisted of 78 healthy males aged 20-27 years (mean 23 years). A pioneer method was used to measure the eruption angle. It was based on determining the topographic construction of mandibular gonion line called GO-GO method on panoramic radiograph...
December 2017: Acta Stomatologica Croatica
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