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JOURNAL ARTICLE
Amarnath Rambhatla, Rupin Shah, Imad Ziouziou, Priyank Kothari, Gianmaria Salvio, Murat Gul, Taha Hamoda, Parviz Kavoussi, Widi Atmoko, Tuncay Toprak, Ponco Birowo, Edmund Ko, Mohamed Arafa, Ramy Abou Ghayda, Vilvapathy Senguttuvan Karthikeyan, Giorgio Ivan Russo, Germar-Michael Pinggera, Eric Chung, Ahmed M Harraz, Marlon Martinez, Nguyen Ho Vinh Phuoc, Nicholas Tadros, Ramadan Saleh, Missy Savira, Giovanni M Colpi, Wael Zohdy, Edoardo Pescatori, Hyun Jun Park, Shinichiro Fukuhara, Akira Tsujimura, Cesar Rojas-Cruz, Angelo Marino, Siu King Mak, Edouard Amar, Wael Ibrahim, Puneet Sindhwani, Naif Alhathal, Gian Maria Busetto, Manaf Al Hashimi, Ahmed El-Sakka, Asci Ramazan, Fotios Dimitriadis, Massimiliano Timpano, Davor Jezek, Baris Altay, Daniel Suslik Zylbersztejn, Michael Yc Wong, Du Geon Moon, Christine Wyns, Safar Gamidov, Hamed Akhavizadegan, Alessandro Franceschelli, Kaan Aydos, Nguyen Quang, Shedeed Ashour, Adel Al Dayel, Mohammed S Al-Marhoon, Sava Micic, Saleh Binsaleh, Alayman Hussein, Haitham Elbardisi, Taymour Mostafa, Jonathan Ramsay, Athanasios Zachariou, Islam Fathy Soliman Abdelrahman, Osvaldo Rajmil, Arif Kalkanli, Juan Manuel Corral Molina, Kadir Bocu, Gede Wirya Kusuma Duarsa, Gökhan Çeker, Ege Can Serefoglu, Fahmi Bahar, Nazim Gherabi, Shinnosuke Kuroda, Abderrazak Bouzouita, Ahmet Gudeloglu, Erman Ceyhan, Mohamed Saeed Mohamed Hasan, Muhammad Ujudud Musa, Ahmad Motawi, Chak-Lam Cho, Hisanori Taniguchi, Christopher Chee Kong Ho, Jesus Fernando Solorzano Vazquez, Shingai Mutambirwa, Nur Dokuzeylul Gungor, Marion Bendayan, Carlo Giulioni, Aykut Baser, Marco Falcone, Luca Boeri, Gideon Blecher, Alireza Kheradmand, Tamilselvi Sethupathy, Ricky Adriansjah, Nima Narimani, Charalampos Konstantinidis, Tuan Thanh Nguyen, Andrian Japari, Parisa Dolati, Keerti Singh, Cevahir Ozer, Selcuk Sarikaya, Nadia Sheibak, Ndagijimana Jean Bosco, Mehmet Serkan Özkent, Sang Thanh Le, Ioannis Sokolakis, Darren Katz, Ryan Smith, Manh Nguyen Truong, Tan V Le, Zhongwei Huang, Muslim Dogan Deger, Umut Arslan, Gokhan Calik, Giorgio Franco, Ayman Rashed, Oguzhan Kahraman, Sotiris Andreadakis, Rosadi Putra, Giancarlo Balercia, Kareim Khalafalla, Rossella Cannarella, Anh Ðăng Tuân, Amr El Meliegy, Birute Zilaitiene, Marlene Lizbeth Zamora Ramirez, Filippo Giacone, Aldo E Calogero, Konstantinos Makarounis, Sunil Jindal, Bac Nguyen Hoai, Ravi Banthia, Marcelo Rodriguez Peña, Dharani Moorthy, Aram Adamyan, Deniz Kulaksiz, Hussein Kandil, Nikolaos Sofikitis, Ciro Salzano, Andreas Jungwirth, Surendra Reddy Banka, Tiago Cesar Mierzwa, Tahsin Turunç, Divyanu Jain, Armen Avoyan, Pietro Salacone, Ateş Kadıoğlu, Chirag Gupta, Haocheng Lin, Iman Shamohammadi, Nasser Mogharabian, Trenton Barrett, Yavuz Onur Danacıoğlu, Andrea Crafa, Salima Daoud, Vineet Malhotra, Abdulmalik Almardawi, Osama Mohamed Selim, Mohamad Moussa, Saeid Haghdani, Mesut Berkan Duran, Yannic Kunz, Mirko Preto, Elena Eugeni, Thang Nguyen, Ahmed Rashad Elshahid, Seso Sulijaya Suyono, Dyandra Parikesit, Essam Nada, Eduardo Gutiérrez Orozco, Florence Boitrelle, Nguyen Thi Minh Trang, Mounir Jamali, Raju Nair, Mikhail Ruzaev, Franco Gadda, Charalampos Thomas, Raphael Henrique Ferreira, Umit Gul, Serena Maruccia, Ajay Kanbur, Ella Kinzikeeva, Saad Mohammed Abumelha, Raghavender Kosgi, Fatih Gokalp, Mohammad Ayodhia Soebadi, Gustavo Marquesine Paul, Hesamoddin Sajadi, Deepak Gupte, Rafael F Ambar, Emrullah Sogutdelen, Karun Singla, Ari Basukarno, Shannon Hee Kyung Kim, Mohammad Ali Sadighi Gilani, Koichi Nagao, Sakti Ronggowardhana Brodjonegoro, Andri Rezano, Mohamed Elkhouly, Rossella Mazzilli, Hasan M A Farsi, Hung Nguyen Ba, Hamed Alali, Dimitrios Kafetzis, Tran Quang Tien Long, Sami Alsaid, Hoang Bao Ngoc Cuong, Knigavko Oleksandr, Akhmad Mustafa, Herik Acosta, Hrishikesh Pai, Bahadır Şahin, Eko Arianto, Colin Teo, Sanjay Prakash Jayaprakash, Rinaldo Indra Rachman, Mustafa Gurkan Yenice, Omar Sefrioui, Shivam Priyadarshi, Marko Tanic, Noor Kareem Alfatlaw, Fikri Rizaldi, Ranjit B Vishwakarma, George Kanakis, Dinesh Thomas Cherian, Joe Lee, Raisa Galstyan, Hakan Keskin, Janan Wurzacher, Doddy Hami Seno, Bambang S Noegroho, Ria Margiana, Qaisar Javed, Fabrizio Castiglioni, Raman Tanwar, Ana Puigvert, Coşkun Kaya, Medianto Purnomo, Chadi Yazbeck, Azwar Amir, Edson Borges, Marina Bellavia, Isaac Ardianson Deswanto, Vinod Kv, Giovanni Liguori, Dang Hoang Minh, Kashif Siddiqi, Fulvio Colombo, Armand Zini, Niket Patel, Selahittin Çayan, Ula Al-Kawaz, Maged Ragab, Guadalupe Hernández Hebrard, Jean de la Rosette, Ozan Efesoy, Ivan Hoffmann, Thiago Afonso Teixeira, Barış Saylam, Daniela Delgadillo, Ashok Agarwal
PURPOSE: Non-obstructive azoospermia (NOA) is a common, but complex problem, with multiple therapeutic options and a lack of clear guidelines. Hence, there is considerable controversy and marked variation in the management of NOA. This survey evaluates contemporary global practices related to medical and surgical management for patients with NOA. MATERIALS AND METHODS: A 56-question online survey covering various aspects of the evaluation and management of NOA was sent to specialists around the globe...
April 4, 2024: World Journal of Men's Health
#2
Luisa M Bernacet Rivera, Hassaan B Aftab, Faryal S Mirza
48 XXYY syndrome is a rare polyploidy often compared with Klinefelter syndrome because of shared features such as tall stature, neurocognitive diseases, hypogonadism, and cardiac malformations. This population is believed to be predisposed to type 2 diabetes because of the presence of hypogonadism and central adiposity. We present a patient with XXYY syndrome who had an atypical and difficult-to-manage diabetes presentation. The patient was nonadherent to medication regimen with poorly controlled diabetes and hemoglobin A1c ranging from 12% to 14% (16...
April 2024: JCEM Case Rep
#3
Pradeep Kumar Gunasekaran, Pooja Jindal, Tanuja Rajial, Varuna Vyas, Kuldeep Singh
The genetics of Down syndrome (DS) and Klinefelter syndrome (KS) are a nondisjunction of autosomal and sex chromosomes, respectively, resulting in aneuploidies. Less than 70 cases of concurrent Down-Klinefelter syndrome (DS-KS) have been reported in the literature. We report the case of a five-month-old Indian child with a rare double aneuploidy resulting in DS-KS. A five-month-old boy born to non-consanguineously married parents presented with failure to thrive and dysmorphic facies. The family history was unremarkable...
March 2024: Curēus
#4
(no author information available yet)
No abstract text is available yet for this article.
April 8, 2024: Journal of Clinical Endocrinology and Metabolism
#5
JOURNAL ARTICLE
Eisa Mahyari, Katinka A Vigh-Conrad, Clément Daube, Ana C Lima, Jingtao Guo, Douglas T Carrell, James M Hotaling, Kenneth I Aston, Donald F Conrad
BACKGROUND: Single-cell RNA-seq (scRNA-Seq) has been widely adopted to study gene expression of the human testis. Several datasets of scRNA-Seq from human testis have been generated from different groups processed with different informatics pipelines. An integrated atlas of scRNA-Seq expression constructed from multiple donors, developmental ages, and fertility states would be widely useful for the testis research community. OBJECTIVE: To describe the generation and use of the human infertility single-cell testis atlas (HISTA), an interactive web tool for understanding human spermatogenesis through scRNA-Seq analysis...
April 5, 2024: Andrology
#6
REVIEW
Vidhu Shekhar Khare, Farhanul Huda, Subhasis Misra, Kanmatha Reddy Amulya, Nirmal Raj, Summi Karn, Somprakas Basu
Male breast cancer (MBC) is a rare entity, underrepresented in population studies and clinical trials, resulting in management of MBC to be informed by current research on female breast cancer (FBC). A literature review was conducted by accessing relevant articles on 2 databases, by searching keywords "male breast cancer". A total of 29 articles from year 2011 to 2022 were selected for this review. The authors found that male breast cancer generally occurs later in life with higher stage, higher grade, and more estrogen receptor (ER) positive tumours...
2024: International Journal of Breast Cancer
#7
JOURNAL ARTICLE
Haifaou Younoussa, Macoura Gadji, Mamadou Soumboundou, Bruno Colicchio, Ahmed Said, Ndeye Aby Ndoye, Steffen Junker, Andreas Plesch, Leonhard Heidingsfelder, Ndeye Rama Diagne, Alain Dieterlen, Philippe Voisin, Patrice Carde, Eric Jeandidier, Radhia M'kacher
UNLABELLED: Differences/Disorders of sex development (DSDs) are conditions in which the development of chromosomal, gonadal, and anatomical sexes is atypical. DSDs are relatively rare, but their incidence is becoming alarmingly common in sub-Saharan Africa (SSA). Their etiologies and mechanisms are poorly understood. Therefore, we have investigated cytogenetic profiles, including telomere dysfunction, in a retrospective cohort of Senegalese DSD patients. MATERIALS AND METHODS: Peripheral blood lymphocytes were sampled from 35 DSD patients (mean age: 3...
March 2, 2024: Biomedicines
#8
(no author information available yet)
No abstract text is available yet for this article.
March 27, 2024: BJU International
#9
EDITORIAL
Romina P Grinspon
No abstract text is available yet for this article.
March 25, 2024: Journal of Clinical Endocrinology and Metabolism
#10
JOURNAL ARTICLE
Elena Bennecke, Anna Strandqvist, Annelou De Vries, Baudewijntje P C Kreukels
OBJECTIVE: Congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex characteristics are referred to as Differences of Sex Development (DSD). Psychosocial care is recommended to be an integral part of clinical management for individuals with DSD. Few studies have examined the perceived need for, utilization of and the opinions of individuals with DSD regarding psychological support. METHODS: This cross-sectional study was part of a European multicentre study in 14 different medical centres in six countries...
March 1, 2024: Journal of Psychosomatic Research
#11
REVIEW
Rodolfo A Rey, Romina P Grinspon
Anti-Müllerian hormone (AMH) is a Sertoli cell-secreted glycoprotein involved in male fetal sex differentiation: it provokes the regression of Müllerian ducts, which otherwise give rise to the Fallopian tubes, the uterus and the upper part of the vagina. In the first trimester of fetal life, AMH is expressed independently of gonadotropins, whereas from the second trimester onwards AMH testicular production is stimulated by FSH and oestrogens; at puberty, AMH expression is inhibited by androgens. AMH has also been suggested to participate in testicular descent during fetal life, but its role remains unclear...
2024: Frontiers in Endocrinology
#12
JOURNAL ARTICLE
Lin Shen, Jie Li, Hanwang Zhang, Yiqing Zhao
BACKGROUND: Reproduction-related congenital birth defects (RCBDs), including Klinefelter syndrome (KS), Turner syndrome (TS), and urogenital congenital anomalies (UCA), can lead to severe physical and psychosocial disorders. The global impact of RCBDs on children and adults is unknown, which limits high-quality development of populations and increases in life expectancy per capita . METHODS: Annual incidence rates, prevalence rates (PR), and disability-adjusted life year (DALY) rates were collected for KS, TS, and UCA for 204 countries and territories, including at birth, for children younger than 1 year, and age-standardized (AS) for all ages...
2024: Frontiers in Public Health
#13
Xiang-Xiang Wu, Jian Cui, Shi-Yao Wang, Tian-Tian Zhao, Ya-Fei Yuan, Long Yang, Wei Zuo, Wen-Jian Liao
BACKGROUND: This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome (AS) following coronavirus disease 2019 (COVID-19) in a 33-year-old man diagnosed with Klinefelter syndrome (KS). CASE SUMMARY: A 33-year-old man with a diagnosis of KS was admitted to the Department of Pulmonary and Critical Care Medicine of a tertiary hospital in China for fever and shortness of breath 2 wk after the onset of COVID-19. Computed tomography of both lungs revealed diffuse multiple patchy heightened shadows in both lungs, accompanied by signs of partial bronchial inflation...
February 26, 2024: World Journal of Clinical Cases
#14
JOURNAL ARTICLE
Francesca Stefanachi, Maria Carmen Affinita, Giulia Fichera, Arianna Tagarelli, Federica De Corti, Federico Rea, Gianni Bisogno
Germ cell tumors (GCTs) are a heterogeneous group of pediatric cancers. In up to one-third of male patients, a primary mediastinal location is associated with the presence of Klinefelter syndrome (KS). We describe a case of mediastinal GCT in a patient, with unacknowledged KS, that presented a relapse 7 years from diagnosis, that is, 2 years after the end of the follow-up program usually recommended for patients with GCT. There are no recommendations for screening for KS in patients with mediastinal GCT and there are no specific guidelines for surveillance of GCT in KS patients...
March 6, 2024: Journal of Pediatric Hematology/oncology
#15
Haruna Akanuma, Suguru Kadowaki, Kazuaki Kanai
Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the androgen receptor (AR) gene. It is thought that the nuclear translocation of abnormal AR proteins following binding to testosterone triggers the onset of the disease. We report the case of a patient who had SBMA coincident with Klinefelter syndrome. He developed SBMA symptoms rapidly after receiving androgen replacement therapy for Klinefelter syndrome...
2024: Frontiers in Neurology
#16
JOURNAL ARTICLE
Roberto Paparella, Giampiero Ferraguti, Marco Fiore, Michela Menghi, Ginevra Micangeli, Francesca Tarani, Aurora Ligotino, Marisa Patrizia Messina, Mauro Ceccanti, Antonio Minni, Christian Barbato, Marco Lucarelli, Luigi Tarani, Carla Petrella
Klinefelter syndrome (KS) is a male genetic disease caused by the presence of an extra X chromosome, causing endocrine disorders mainly responsible for a high rate of infertility and metabolic disorders in adulthood. Scientific research is interested in identifying new biomarkers that can be predictive or prognostic of alterations strictly connected to KS. Lipocalin-2 (LCN-2, also known as NGAL) is a small protein initially identified within neutrophils as a protein related to innate immunity. Serum LCN-2 estimation seems to be a useful tool in predicting the metabolic complications caused by several pathological conditions...
February 12, 2024: International Journal of Molecular Sciences
#17
JOURNAL ARTICLE
A Garolla, M Kiesswetter, S Angelini, F Cavalieri, C Foresta, M Panzeri, A Ferlin
PURPOSE: Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder among males. The communication of the KS diagnosis holds significant implications for the diagnosis's acceptance. Recently, the increased use of prenatal diagnostic procedures has raised the question of whether, when, and by whom information, once provided to parents, should be communicated to their children/adolescents. Currently, there is limited information on this topic. This study aims to investigate the most suitable timing, content, and healthcare professionals (HCPs) according to KS patients' suggestions for conveying the diagnosis, analyzing the impact of communicating the KS diagnosis on patients and their reception of the communication in real-life situations...
February 20, 2024: Journal of Endocrinological Investigation
#18
JOURNAL ARTICLE
Linlin Tian, Yan Yu, Ziqing Mao, Dandan Xu, Hongbo Zhang, Mengkai Qiao, Tong Chen, Wen Liu
Klinefelter syndrome (KS) is the most frequent genetic anomaly in infertile men. Given its unclear mechanism, we aim to investigate critical genes and pathways in the pathogenesis of KS based on three bulk and one single-cell transcriptome data sets from Gene Expression Omnibus. We merged two data sets (GSE42331 and GSE47584) with human KS whole blood samples. When comparing the control and KS samples, five hub genes, including defensin alpha 4 (DEFA4), bactericidal permeability increasing protein (BPI), myeloperoxidase (MPO), intelectin 1 (ITLN1), and Xg Glycoprotein (XG), were identified...
February 19, 2024: Biochemical Genetics
#19
Chad Richmond, Richard Hartfield, Leonard Powell, Alison Mancuso
Reviewed here is a case of Klinefelter Syndrome (KS) diagnosed by a primary care physician after recognition of key features of KS, confirmed by karyotype, along with a discussion of factors associated with this patient's diagnosis and care. Recognition of the key features of this syndrome is important in order to provide proper screening, risk mitigation and treatment to these patients.
December 2023: Journal of Family Medicine and Primary Care
#20
JOURNAL ARTICLE
Veronica Astro, Antonio Adamo
Somatic cell reprogramming allows the generation of human induced pluripotent stem cells (iPSCs) from patient's cells. The derived iPSCs provide an unlimited source of patient-specific cells that can be virtually differentiated in any cell of the human body. The generation of iPSCs has important implications for all human medicine fields, as they can be used for drug discovery, regenerative medicine, and developmental studies. Klinefelter Syndrome (KS) is the most common chromosome aneuploidy in males. KS is typically characterized by a 47,XXY karyotype, representing 80-90% of KS patients...
2024: Methods in Molecular Biology
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