klinefelter's syndrome

A 46,XX male represents a variant of Klinefelter syndrome (47,XXY), under the category of a disorder of sex development (DSD). Despite possessing an XX karyotype, these individuals exhibit a male phenotype, which, in this case, results from a translocation of the SRY gene from the Y chromosome onto the X chromosome. This genetic alteration results in the development of male gonadal characteristics. This case report outlines a prenatal diagnosis of a 46,XX female in conflict with a level 2 ultrasound. It details the patient's presentation, diagnosis of an SRY-positive 46,XX male, and medical history...

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Men with an extra X chromosome are at risk for social difficulties in which executive functions are known to play an important role. The aim of this study was to examine the potential efficacy of a novel neurocognitive-behavioral treatment program tailored to the specific vulnerabilities of Klinefelter syndrome (47, XXY). Social Management Training (SMT) aimed to increase the ability of individuals to regulate their thoughts, emotions and behaviors in ways that are socially adaptive. 16 Adolescents and men with Klinefelter Syndrome participated in SMT...

BACKGROUND: Klinefelter's syndrome (KS) was once considered infertile due to congenital chromosomal abnormalities, but the presence of focal spermatozoa changed this. The key to predict and promote spermatogenesis is to find targets that regulate focal spermatogenesis. OBJECTIVE: To explore the trend of fertility changes in KS patients at different ages and identify potential therapeutic targets. METHODS: Bibliometric analysis was used to collect clinical research data on KS from the Web of Science Core Collection (WoSCC) from 1992 to 2022...

Biological sex differences refer to differences between males and females caused by the sex chromosome complement (that is, XY or XX), reproductive tissues (that is, the presence of testes or ovaries), and concentrations of sex steroids (that is, testosterone or oestrogens and progesterone). Although these sex differences are binary for most human individuals and mice, transgender individuals receiving hormone therapy, individuals with genetic syndromes (for example, Klinefelter and Turner syndromes) and people with disorders of sexual development reflect the diversity in sex-based biology...

BACKGROUND: Perineural spread (PNS) of breast cancer to the brachial plexus is rare, with reports limited to cases only in female patients. This study aimed to determine the incidence of PNS in male compared with female patients. METHODS: Adult breast cancer patients referred to a single institution between 1994 and 2022 were retrospectively reviewed for imaging or biopsy-confirmed cases of PNS to the brachial plexus. Two independent reviewers of articles published in any language between 1990 and 2022 in PubMed, Scopus, Embase, and Google Scholar performed a systematic literature review...

Klinefelter syndrome (KS) is the most common cause of primary hypogonadism in male patients; however, the diagnosis of KS is frequently delayed or missed. This delay can lead to undesirable outcomes for patients, especially considering that individuals with KS have a higher risk of developing specific malignancies, including breast cancer, non-Hodgkin's lymphoma and mediastinal germ cell tumours. We present a case of a male patient in his 60s, where the established diagnosis of metastatic bilateral breast cancer prompted us to investigate and subsequently confirm a diagnosis of KS...

BACKGROUND: Men with Klinefelter syndrome (KS) develop hypergonadotropic hypogonadism, are in need of testosterone replacement therapy (TRT), and present with a more than 4-fold increased risk of thrombosis. TRT in KS has the potential to modify thrombotic risk, but data are scarce. AIM: To assess effects of 18 months of TRT on hemostasis in KS and identify genes associated with the prothrombotic phenotype. METHODS: Untreated and TRT-treated men with KS were included at baseline and matched to healthy controls...

STUDY QUESTION: Does Klinefelter syndrome (KS) lead to a distinct gene expression pattern at single-cell level in the testes that could provide insight into the reported microvascular dysfunction in the testes? SUMMARY ANSWER: A distinct gene expression pattern within microvascular-associated cells of males with KS suggests excessive endothelial cell (EC) activation, disorganized vessel formation, and the presence of immature vessels with compromised integrity. WHAT IS KNOWN ALREADY: Recent studies show that males with KS exhibit microvascular dysfunction in their testes, which affects blood flow and is associated with lower circulating levels of testosterone...

PURPOSE: We sought to examine sperm retrieval and testicular histology in males of different ages with Klinefelter syndrome. MATERIALS AND METHODS: We identified all males with Klinefelter syndrome who underwent microdissection testicular sperm extraction at our institution from 1995 to 2020. Patients were divided into adolescent (<20 years) and adult (≥20 years) cohorts. Histology and sperm retrieval were compared using chi-square statistics. Multivariable logistic regression models were used to examine factors associated with successful sperm retrieval...

INTRODUCTION: Co-existence pathogenic copy number variation with aneuploidy is a rare phenomenon. Whole TBL1XR1 gene deletions are described and associated with autosomal dominant intellectual development disorder-41 (#616944). However, the phenotypical expression of the TBL1XR1 partial deletion is poorly described. CASE PRESENTATION: We describe the case of a male, aged 18 months, who presented delayed motor development, gait disturbance, mild generalized hypotonia, minor dysmorphic features and growth failure, in addition to Klinefelter syndrome (KS)...

The Amelogenin sex test included in forensic DNA typing kits has the potential to identify congenital conditions such as differences/disorders of sex development (DSD). It can also reveal mismatches between genotypic sex and gender marker in identity documents of transgender persons who obtained legal gender recognition. In a 13-year case history of paternity/kinship tests, involving n = 962 females and n = 1001 males, two mismatches between Amelogenin sex test (male) and gender marker (female), and three cases of chromosomal DSD (Klinefelter syndrome) were observed...

BACKGROUND: Chromosomal abnormalities contribute significantly to human morbidity and mortality, leading to various pathologies. This study aimed to assess the prevalence of chromosomal abnormalities among patients suspected of genetic disorders in Ouagadougou, Burkina Faso. METHODS AND RESULTS: A descriptive cross-sectional study was conducted from January 1, 2018, to July 16, 2021, involving patients from different university hospitals in Ouagadougou. Blood samples were collected at Hôpital Saint Camille de Ouagadougou (HOSCO) and sent to the Cerba laboratory in France for cytogenetic analysis...

BACKGROUND: Klinefelter Syndrome (KS) is a sex chromosomal syndrome usually with an extra X chromosome (47, XXY) in males, which has various phenotype (mosaicism 47, XXY/46, XY, or more chromosomes 48, XXXY, 49, XXXXY) and clinical features, including eunuchoid body proportions, abnormally long legs and arm span, gynecomastia, ynecomastia, absent or decreased facial and pubic hair, small hyalinized testes, small penis, below-normal verbal intelligence quotient, and learning difficulties...

BACKGROUND: Cryptorchidism is defined as failure of unilateral or bilateral testicular descent, which increases the risk of infertility and testicular carcinoma. Although there is much research on cryptorchidism, few studies have used the bibliometric analysis method. The purpose of this study was to conduct a comprehensive analysis of cryptorchidism from muti-dimensional perspectives to summarize the research hotspots and trends in cryptorchidism research. METHODS: Relevant studies on cryptorchidism were retrieved from the Web of Science Core Collection (WoSCC) database from 2000 to 2022...

Background: Men diagnosed with Klinefelter syndrome (KS) commonly exhibit non-obstructive azoospermia or rarely having sperm in their ejaculate, rendering them traditionally considered sterile prior to the introduction of intracytoplasmic sperm injection (ICSI). The presence of mosaic KS may mask the classical phenotype, resulting in underdiagnosis throughout their lifetime. Surgical sperm retrieval through Microdissection Testicular Sperm Extraction (Micro-TESE) combined with ICSI has become the gold standard approach, maximizing reproductive outcomes in these individuals...

Prenatal exposure to heavy metals causes multiple hazards to fetal growth and development. Epidemiological studies on the association between heavy metals and fetal chromosomal abnormalities (CAs) are lacking. We conducted a nested case-control study in a cohort of high-risk pregnant women in China from September 2018 to June 2021. A total of 387 participants were diagnosed with fetal CAs in the case group and 699 were diagnosed with a normal karyotype in the control group. Amniotic fluid concentrations of 10 metals (barium, cobalt, antimony, manganese, ferrum, copper, selenium, strontium, vanadium, and chromium) were measured using inductively coupled plasma-mass spectrometry...

PURPOSE: Kallmann syndrome is a rare disease characterized by delayed puberty, infertility and anosmia. We report the clinical and genetic characteristics of three patients with Kallmann syndrome who presented with Klinefelter syndrome and defined this neglected combined form of hypogonadism as mixed hypogonadism. METHODS: Clinical data and examinations were obtained, including laboratory examination and magnetic resonance imagination (MRI) of the olfactory structures...

INTRODUCTION: azoospermia affects more than 10%-15% of infertile male subjects attending the infertility center. In Morocco, there have been no studies on male infertility with azoospermia. Thereby, our objective was to evaluate the clinical, hormonal, and genetic characteristics of infertile men with azoospermia in Morocco. METHODS: we conducted a retrospective descriptive study performed with a convenience sample of 80 infertile men from 2021 to 2022, in the Assisted Reproductive Technology Unit of the Mohammed VI University Hospital Center in Oujda-Morocco...

BACKGROUND: Human endosomal Toll-like receptors TLR7 and TLR8 recognize self and non-self RNA ligands, and are important mediators of innate immunity and autoimmune pathogenesis. TLR7 and TLR8 are, respectively, encoded by adjacent X-linked genes. We previously established that TLR7 evades X chromosome inactivation (XCI) in female immune cells. Whether TLR8 also evades XCI, however, has not yet been explored. METHOD: In the current study, we used RNA fluorescence in situ hybridization (RNA FISH) to directly visualize, on a single-cell basis, primary transcripts of TLR7 and TLR8 relative to X chromosome territories in CD14+ monocytes and CD4+ T lymphocytes from women, Klinefelter syndrome (KS) men, and euploid men...