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Klinefelter Syndrome

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101. Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome. (PubMed)

Expression patterns of DLK1 and INSL3 identify stages of Leydig cell differentiation during normal development and in testicular pathologies, including testicular cancer and Klinefelter syndrome. What is the differentiation stage of human testicular interstitial cells, in particular Leydig cells (LC), within micronodules found in patients with infertility, testicular cancer and Klinefelter syndrome?The Leydig- and peritubular-cell populations in testes with dysgenesis contain an increased (...) human specimens and in 58 adult testis samples from patients with testicular germ cell tumours, including precursor carcinoma in situ (CIS), infertility or Klinefelter syndrome.The expression patterns of DLK1, INSL3, chicken ovalbumin upstream promoter transcription factor 2 (COUP-TFII), cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1) and smooth muscle actin (SMA) were investigated by immunohistochemistry and quantitative RT-PCR. The percentage of positive LCs was estimated

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2014 Human Reproduction

102. A prospective study of testicular sperm extraction in young versus adult patients with non-mosaic 47,XXY Klinefelter syndrome. Preliminary results. (PubMed)

A prospective study of testicular sperm extraction in young versus adult patients with non-mosaic 47,XXY Klinefelter syndrome. Preliminary results. Testicular sperm extraction (TESE) in adult patients with nonmosaic 47,XXY provides a sperm retrieval rate (SRR) of approximately 50%. Age is the only significant prognostic factor. Whether TESE should be performed in adolescent patients for sperm cryopreservation remains to be determined.The objective of the study was to compare SRR between young (...) TESE, and 23.7 ± 7.4 in the 18 cases of negative TESE, the difference being nonsignificant (P = .42). SRR was 9/17 = 52.9% for patients with and 14/24 = 59.1% for patients without previous testosterone (T) treatment, the difference being nonsignificant (P = .98).According to the present results, performing TESE at a younger age (15-23 y) in patients with azoospermic nonmosaic 47,XXY Klinefelter did not increase SRR relative to adult patients (25-39 y). Previous replacement treatment with moderate

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2014 Journal of Clinical Endocrinology and Metabolism

103. Management of Klinefelter syndrome during transition. (PubMed)

Management of Klinefelter syndrome during transition. Klinefelter syndrome (KS) is the most common sex chromosomal disorder in males. Key findings in older adolescents and young men are small testes with variable hypo-androgenism, but almost universal azoospermia, most frequently in combination with a history of learning difficulties and behavior problems. Males with KS may come to medical attention through different medical presentations, given its association with several congenital (...) such as metabolic syndrome, autoimmune diseases, thyroid dysfunction, and malignancies is warranted during this period of life. The practical medical management during transition and, more specifically, the role of the endocrinologist are discussed in this article. © 2014 European Society of Endocrinology.

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2014 European Journal of Endocrinology

104. The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome. (PubMed)

The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome. Klinefelter syndrome (47, XXY) is the most frequent genetic cause of male infertility and individuals share the endocrine hallmark of hypergonadotropic hypogonadism. Single-nucleotide polymorphisms located within the FSHB/FSHR gene were recently shown to impact serum follicle-stimulating hormone (FSH) levels and other reproductive parameters in men. The objective (...) nor reproductive parameters. In conclusion, a hypergonadotropic setting such as Klinefelter syndrome does not mask the FSHB -211G>T genotype effects on the follicle-stimulating hormone serum levels. The impact was indeed more pronounced compared with normal or infertile men, whereas gonadotropin suppression under testosterone treatment seems to be independent of the genotype. Thus, the FSHB -211G>T genotype is a key determinant in the regulation of gonadotropins in different reproductive-endocrine

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2014 European Journal of Human Genetics

105. Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain (PubMed)

Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain Klinefelter syndrome (KS) is the most common sex-chromosome aneuploidy in humans. Most affected individuals carry one extra X-chromosome (47,XXY karyotype) and the condition presents with a heterogeneous mix of reproductive, physical and psychiatric phenotypes. Although the mechanism(s) by which the supernumerary X-chromosome determines these features of KS are poorly understood, skewed X

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2014 Epigenetics

106. Influence of the X-Chromosome on Neuroanatomy: Evidence from Turner and Klinefelter Syndromes (PubMed)

Influence of the X-Chromosome on Neuroanatomy: Evidence from Turner and Klinefelter Syndromes Studies of sex effects on neurodevelopment have traditionally focused on animal models investigating hormonal influences on brain anatomy. However, more recent evidence suggests that sex chromosomes may also have direct upstream effects that act independently of hormones. Sex chromosome aneuploidies provide ideal models to examine this framework in humans, including Turner syndrome (TS), where females (...) are missing one X-chromosome (45X), and Klinefelter syndrome (KS), where males have an additional X-chromosome (47XXY). As these disorders essentially represent copy number variants of the sex chromosomes, investigation of brain structure across these disorders allows us to determine whether sex chromosome gene dosage effects exist. We used voxel-based morphometry to investigate this hypothesis in a large sample of children in early puberty, to compare regional gray matter volumes among individuals

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2014 The Journal of Neuroscience

107. Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome (PubMed)

Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy in men and is characterized by the presence of an additional X chromosome (XXY). In some Klinefelter males, certain traits may be feminized or shifted from the male-typical pattern towards a more female-typical one. Among them might be partner choice, one of the most sexually dimorphic traits in the animal kingdom. We investigated

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2014 Archives of Sexual Behavior

108. Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients. (PubMed)

Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients. To determine whether men with Klinefelter syndrome (KS) have the same phenotype as men with mosaic KS.Subject identification via prospectively collected database.Male infertility specialty clinic.Men undergoing a fertility evaluation from 2005 to 2012 at a single male infertility specialty clinic and having a karyotype demonstrating KS (mosaic or non-mosaic).None.Testicular size, and semen

2014 Fertility and Sterility

109. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting in: European Journal of Endocrinology Volume 177 Issue 3 Year 2017 This site uses cookies, tags, and tracking settings to store information that help give you the very best browsing (...) experience. If you don't change your settings, we'll assume you're happy with this. Google Translate to save searches and organize your favorite content. Not registered? Search Recently viewed (1) Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting in Authors: , , , , , , , , , , , , , , , , , , , , and View More View Less 1 Departments of Endocrinology and Internal Medicine 2 Departments

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2016 European Society of Human Reproduction and Embryology

110. Klinefelter Syndrome (Diagnosis)

Klinefelter Syndrome (Diagnosis) Klinefelter Syndrome: Practice Essentials, Pathophysiology, Epidemiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ1NjQ5LW92ZXJ2aWV3 processing > Klinefelter Syndrome (...) Updated: Feb 25, 2018 Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, FAAP, FACMG Share Email Print Feedback Close Sections Sections Klinefelter Syndrome Overview Practice Essentials In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. [ ] The etiology was thought to be due to an endocrine disorder of unknown cause

2014 eMedicine Pediatrics

111. Klinefelter Syndrome (Overview)

Klinefelter Syndrome (Overview) Klinefelter Syndrome: Practice Essentials, Pathophysiology, Epidemiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ1NjQ5LW92ZXJ2aWV3 processing > Klinefelter Syndrome (...) Updated: Feb 25, 2018 Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, FAAP, FACMG Share Email Print Feedback Close Sections Sections Klinefelter Syndrome Overview Practice Essentials In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. [ ] The etiology was thought to be due to an endocrine disorder of unknown cause

2014 eMedicine Pediatrics

112. Klinefelter Syndrome (Treatment)

Klinefelter Syndrome (Treatment) Klinefelter Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ1NjQ5LXRyZWF0bWVudA== processing (...) > Klinefelter Syndrome Treatment & Management Updated: Feb 25, 2018 Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, FAAP, FACMG Share Email Print Feedback Close Sections Sections Klinefelter Syndrome Treatment Medical Care Early identification and anticipatory guidance are extremely helpful in Klinefelter syndrome. Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. Androgen replacement therapy Androgen

2014 eMedicine Pediatrics

113. Klinefelter Syndrome (Follow-up)

Klinefelter Syndrome (Follow-up) Klinefelter Syndrome Follow-up: Further Outpatient Care, Further Inpatient Care, Inpatient & Outpatient Medications Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTQ1NjQ5LWZvbGxvd3Vw processing > Klinefelter Syndrome Follow-up Updated: Feb 25, 2018 Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, FAAP, FACMG Share Email Print Feedback Close Sections Sections Klinefelter Syndrome Follow-up Further Outpatient Care Management of Klinefelter syndrome includes the following: Endocrinologist - To assist in management and treatment with testosterone replacement therapy Speech therapy Occupational and physical therapy Behavioral consultation Regular

2014 eMedicine Pediatrics

114. Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and 'stump' tail sperm: an updated literature review. (PubMed)

Reproductive outcomes in patients with male infertility because of Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia fibrous sheath, and 'stump' tail sperm: an updated literature review. To describe the reproductive outcomes of a heterogeneous group of male infertility conditions causing severe alterations in the sperm parameters (counts, motility, and morphology) because of chromosomal, genetic, or still unknown causes. Source of sperm, fertilization, pregnancy, live (...) birth, and miscarriage rates of patients with Klinefelter's syndrome, Kartagener's syndrome, round-head sperm, dysplasia of the fibrous sheath (DFS), and stump-tail sperm were reviewed.There are differences in the outcome according to the conditions and the source of sperm (ejaculated versus testicular). Klinefelter's syndrome patients have better reproductive outcomes when sperm is present in the ejaculate. Kartagener's syndrome shows better fertilization when testicular sperm is used; however

2013 Current Opinion in Obstetrics and Gynecology

115. Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome. (PubMed)

Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome. To contrast the behavioral and social phenotypes including a screen for autistic behaviors in boys with 47,XYY syndrome (XYY) or 47,XXY Klinefelter syndrome (KS) and controls and investigate the effect of prenatal diagnosis on the phenotype.Patients included 26 boys with 47,XYY, 82 boys with KS, and 50 control boys (ages 4-15 years). Participants and parents completed a physical examination, behavioral

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2012 Pediatrics

116. Cardiovascular abnormalities in Klinefelter syndrome. (PubMed)

Cardiovascular abnormalities in Klinefelter syndrome. Several epidemiological studies have demonstrated an increased mortality from cardiovascular causes in patients with Klinefelter Syndrome (KS). Little information is available about the nature of the underlying cardiovascular abnormalities. Aim of the study was to investigate exercise performance, left ventricular architecture and function, vascular reactivity, and carotid intima-media thickness in a group of patients with KS.Sixty-nine (...) patients with KS and 48 age-matched controls participated in our population-controlled study. Forty-eight Klinefelter subjects were on testosterone treatment at the time of the investigation while 21 were naive and underwent a complete Doppler echocardiographic examination, a cardiopulmonary exercise test as well as a vascular study including measures of carotid intima-media thickness and endothelial function with flow-mediated dilation of the brachial artery. Patients with KS on testosterone therapy

2013 International journal of cardiology

117. Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome. (PubMed)

Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome. Does the health status of infants fathered by nonmosaic Klinefelter syndrome (KS) patients whose partners underwent ICSI with sperm obtained from testicular dissection reveal any genetic risk for the offspring?.KS patients undergoing testicular sperm extraction (TESE) are capable of conceiving healthy children.Paternity has been successfully achieved in nonmosaic KS patients (47,XXY karyotype) by ICSI using

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2013 Human Reproduction

118. Comparison of Sperm Retrieval and Intracytoplasmic Sperm Injection Outcome in Patients With and Without Klinefelter Syndrome. (PubMed)

Comparison of Sperm Retrieval and Intracytoplasmic Sperm Injection Outcome in Patients With and Without Klinefelter Syndrome. To evaluate microsurgical testicular sperm extraction (micro-TESE) and intracytoplasmic sperm injection (ICSI) treatment in patients with non-mosaic Klinefelter syndrome (KS).We retrospectively evaluated the micro-TESE/ICSI performance in 134 patients with classic KS and 537 men with nonobstructive azoospermia (NOA) and normal karyotype referred to Royan Institute

2013 Urology

119. A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis. (PubMed)

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis. Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach

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2013 European Journal of Human Genetics

120. Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. (PubMed)

Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. Klinefelter syndrome (KS) with the karyotype 47,XXY is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0.1% to 0.2% of newborn male infants. It causes hypogonadism and infertility. Until now, however, only about one-quarter of all persons with KS received the diagnosis during their lifetimes.Selective review of the literature.KS is caused by aneuploidy (...) syndrome, type 2 diabetes, and epilepsy. The most important therapeutic measure is testosterone supplementation, which should be initiated if the testosterone concentration drops below 12 nmol/L and should be given as directed in the guidelines for the treatment of hypogonadism. This recommendation is made even though there have not been any randomized controlled trials documenting the efficacy of testosterone therapy in adolescents or young adults. In some cases, viable sperm can be obtained from

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2013 Deutsches Arzteblatt international

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