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Klinefelter Syndrome

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2. Endocrine aspects of Klinefelter syndrome

Endocrine aspects of Klinefelter syndrome Updated Browser Requirements In order to ensure optimal security your browser must support TLS 1.2 or later. To accomplish this, make sure you are meeting the requirements listed below. Contact support with additional questions at Chrome version 30 or greater Internet Explorer version 9 or greater. For versions 9-10, TLS 1.2 is disabled by default so you will need to enable it in the browser settings if this hasn’t already been done Microsoft Edge All

2019 Pediatric Endocrine Society

3. A Case of Familial Male-Limited Precocious Puberty in a Child With Klinefelter Syndrome Full Text available with Trip Pro

A Case of Familial Male-Limited Precocious Puberty in a Child With Klinefelter Syndrome Familial male-limited precocious puberty (FMPP) is an autosomal dominant, male-limited disorder that causes peripheral precocious puberty in boys. Klinefelter syndrome (47, XXY) is the most common chromosomal aberration in males with associated infertility, hypogonadism, and learning disability. We report here a case of Klinefelter syndrome in a patient with FMPP. A 6-year-old boy was referred to our (...) pediatric endocrinology department for accelerated linear growth and premature pubic hair development. He was diagnosed with FMPP based on clinical, laboratory, and genetic sequencing. Increased levels of gonadotropins prompted further investigation, leading to a subsequent diagnosis of Klinefelter syndrome through karyotype analysis. This case illustrates that patients with FMPP and elevated gonadotropins should encourage further investigation by physicians. We recommend the use of karyotype analysis

2018 Journal of the Endocrine Society

4. Salivary testosterone in relation to social cognition and social anxiety in children and adolescents with 47,XXY (Klinefelter syndrome). Full Text available with Trip Pro

Salivary testosterone in relation to social cognition and social anxiety in children and adolescents with 47,XXY (Klinefelter syndrome). 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

2018 PLoS ONE

5. Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement. Full Text available with Trip Pro

Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement. Klinefelter syndrome (KS) (47, XXY) is the most common sex chromosome disorder, with a prevalence of 1 in every 660 newborn males. Despite the profound adverse effects of anxiety and depression, and their greater prevalence in KS populations, no research has been conducted to date to identify the determinants of anxiety and depression among patients with KS. We examined the relationships between (...) with Klinefelter syndrome. The central role of neuroticism suggests that it may be used to help identify and treat KS patients at particularly high-risk for attention-switching deficits, anxiety and depression.

2018 PLoS ONE

6. Partnering with parents to disclose Klinefelter syndrome to their child

Partnering with parents to disclose Klinefelter syndrome to their child Partnering with parents to disclose Klinefelter syndrome to their child - Tremblay - 2016 - Acta Paediatrica - Wiley Online Library The full text of this article hosted at iucr.org is unavailable due to technical difficulties.

2016 Pediatric Endocrine Society

7. Endocrine and metabolic evaluation of classic Klinefelter syndrome and high grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions? Full Text available with Trip Pro

Endocrine and metabolic evaluation of classic Klinefelter syndrome and high grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions? 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. While KS and HGAs both involve testicular dysgenesis with hypergonadotropic hypogonadism, they differ in many clinical features. The aim of this study (...) and LDL cholesterol were significantly higher in HGA patients than in KS patients and controls, while HDL cholesterol was higher in controls than in patients.KS and HGAs should be considered as two distinct conditions.© 2018 European Society of Endocrinology.

2018 European Journal of Endocrinology

8. Possible link between FSH and RANKL release from adipocytes in men with impaired gonadal function including Klinefelter syndrome. (Abstract)

Possible link between FSH and RANKL release from adipocytes in men with impaired gonadal function including Klinefelter syndrome. The FSH receptor (FSHR) has been found to be expressed in human bone cells and bone marrow-adipocytes, and highly-debated mouse studies have suggested extra-gonadal effects of gonadotropins on glucose, adipocyte and bone homeostasis. These putative effects could be direct or indirectly mediated by endocrine factors released from bone-cells or adipocytes. Here, we (...) investigated whether gonadotropins are linked with glucose- and lipid-metabolism in hypergonadotropic men.Single centre, cross-sectional study of 307 men with idiopathic infertility and 28 men with Klinefelter syndrome (KS).associations between serum LH and FSH with soluble-RANKL (sRANKL), osteoprotegerin (OPG), osteocalcin, fasting glucose and insulin, sex steroids, and body composition. Expression of FSHR was studied in human-derived adipocyte-cell-models (hMADS, TERT-hWA) and FSH stimulation of RANKL

2019 Bone

9. A placebo-controlled randomized study with testosterone in Klinefelter syndrome - beneficial effects on body composition. Full Text available with Trip Pro

A placebo-controlled randomized study with testosterone in Klinefelter syndrome - beneficial effects on body composition. Males with Klinefelter syndrome (KS) are typically hypogonadal with a high incidence of metabolic disease, increased body fat and mortality. Testosterone treatment of hypogonadal patients decrease fat mass, increase lean body mass and improve insulin sensitivity, but whether this extend to patients with KS is presently unknown.In a randomized, double-blind, placebo

2019 Endocrine connections Controlled trial quality: uncertain

10. Androgen treatment effects on hippocampus structure in boys with Klinefelter syndrome. Full Text available with Trip Pro

Androgen treatment effects on hippocampus structure in boys with Klinefelter syndrome. Klinefelter syndrome (KS, 47,XXY) is the most common sex chromosome aneuploidy in males. A variety of complex clinical needs is associated with KS, including physical, cognitive and psychosocial impairments. Standard treatment for KS consists of androgen replacement therapy in adolescence to offset testosterone deficiency. Such treatment has a beneficial effect on the physical and behavioral manifestations (...) of this syndrome. Whether androgen supplementation has a significant influence on the brain, however, is unknown. In the current study, we examined regional gray matter volume in boys with KS to assess whether treatment with oxandrolone, a synthetic hormone analog of testosterone, was associated with structural changes in the brain. Specifically, we focused our investigation on the hippocampus, given (1) its involvement in KS, and (2) the high concentration of androgen receptors found in this region

2019 Psychoneuroendocrinology Controlled trial quality: uncertain

11. Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome. Full Text available with Trip Pro

Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome. Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a higher risk of developing metabolic and cardiovascular diseases, inflammatory and autoimmune disorders, osteoporosis and cancer. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5) has been (...) shown to be involved in several biologic processes, including inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, as well as cellular growth and proliferation, cellular development and cell-to-cell signaling and interaction. The lncRNA GAS5 expression profile in KS patients has never been evaluated so far.To accomplish this, GAS5 mRNA levels were evaluated by Next Generation Sequencing (NGS) technology and qRT-PCR assay in 10 patients with KS and 10 age

2019 BMC Medical Genetics

12. Klinefelter syndrome in males with germ cell tumors: A report from the children's oncology group. Full Text available with Trip Pro

Klinefelter syndrome in males with germ cell tumors: A report from the children's oncology group. Males with Klinefelter syndrome (KS) (47,XXY) may be more likely to develop germ cell tumors (GCTs), particularly mediastinal GCTs. To date, there are no reports characterizing the prevalence of KS among male GCT cases.The authors used array genotyping data from a Children's Oncology Group epidemiology study to estimate the prevalence of KS in males with GCTs (433 males aged birth-19 years). Using (...) ; 95% confidence interval, 11.7-30.0).Compared with males without chromosomal abnormalities, males with KS are more likely to be diagnosed with a mediastinal GCT. The presence of KS should be considered in males with a diagnosis of mediastinal GCT. In the current study, the authors report that approximately one-third of males with mediastinal germ cell tumors have Klinefelter syndrome, and therefore screening of these individuals for the syndrome may be warranted. Males with Klinefelter syndrome

2018 Cancer

13. DNA hypermethylation and differential gene expression associated with Klinefelter syndrome Full Text available with Trip Pro

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome Klinefelter syndrome (KS) has a prevalence ranging from 85 to 250 per 100.000 newborn boys making it the most frequent sex chromosome aneuploidy in the general population. The molecular basis for the phenotypic traits and morbidity in KS are not clarified. We performed genome-wide DNA methylation profiling of leucocytes from peripheral blood samples from 67 KS patients, 67 male controls and 33 female

2018 Scientific reports

14. Intracytoplasmic sperm injection outcome of ejaculated spermatozoa from a man with mosaic Klinefelter's Syndrome: case report and literature review Full Text available with Trip Pro

Intracytoplasmic sperm injection outcome of ejaculated spermatozoa from a man with mosaic Klinefelter's Syndrome: case report and literature review 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. Of these, 102 sperm cells were normal with an X18 (55.56%) or Y18 (38.89%) chromosome pattern. Three cells with XX18 (2.78%) and three cells with YY18 (2.78%) signals were detected. The fetus stopped developing in the eighth week. The karyotype determined by an analysis of the abortive tissue was 46, XY. The literature review

2018 The Journal of international medical research

15. The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome Full Text available with Trip Pro

The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome Klinefelter syndrome (KS) is a common sex chromosome-related abnormality seen among men. KS negatively affects spermatogenesis and testosterone production. It increases the risk of thrombosis but its molecular mechanism has not been well described yet. Elevated PAI-1 is a risk factor for thrombosis. The rs1799889 polymorphism located in the promoter region of the PAI-1

2018 American journal of men's health

16. A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity Full Text available with Trip Pro

A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male

2018 Endocrinology, diabetes & metabolism case reports

17. Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings Full Text available with Trip Pro

Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings Klinefelter syndrome (KS) is the most common (1/500–1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of children with KS to assess the age and presenting symptoms for diagnosis, clinical and laboratory findings, together with the presence of comorbidities.Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting (...) , 4.8%) and a speech disorder (n=1, 4.8%). The most frequent clinical findings were neurocognitive disorders, speech impairment, social and behavioral problems and undescended testes. All except two patients were prepubertal at admission. Most of the patients (n=20, 86.9%) showed the classic 47,XXY karyotype. Steroid 5 alpha-reductase 2 gene and androgen receptor gene mutations were detected in two of the three cases with genital ambiguity.Given the large number of underdiagnosed KS patients before

2018 Journal of clinical research in pediatric endocrinology

18. Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome Full Text available with Trip Pro

Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome 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 (8.2 mmol/L) and 381 mg/dL (21.2 mmol/L) three days after undergoing a complete repair of an atrioventricular defect. Hemoglobin A1c was 6.6%. The patient was born at term with a birth weight of 2.16 kg following a pregnancy complicated by gestational diabetes that was controlled with diet. The patient was initially

2018 Journal of clinical research in pediatric endocrinology

19. Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome Full Text available with Trip Pro

Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent (...) spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed. The present study was carried out to investigate the role of mitochondrial subunits in KS, since the molecular mechanisms underlying KS pathogenesis are not fully understood. Methods: The study was performed by the next generation sequencing analysis and qRT-PCR assay. Results: We were able to identify a significant down

2018 International journal of medical sciences

20. Infertility in Patients With Klinefelter Syndrome: Optimal Timing for Sperm and Testicular Tissue Cryopreservation Full Text available with Trip Pro

. This review focuses specifically on non-obstructive azoospermia secondary to Klinefelter syndrome and discusses controversies surrounding fertility management in patients with this genetic disorder. (...) Infertility in Patients With Klinefelter Syndrome: Optimal Timing for Sperm and Testicular Tissue Cryopreservation Male factor infertility is a complex issue presenting many diagnostic and management challenges. It is responsible for about 50% of all causes of infertility and thus carries significant medical, financial, and psychological implications for the couples struggling with conception. Klinefelter syndrome is the most common chromosomal male anomaly associated with male infertility

2018 Reviews in urology

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