Results 71 to 80 of about 1,142,251 (222)

A rare case of multiple impacted teeth in a Klinefelter patient

Journal of Craniomaxillofacial Research, 2015
Klinefelter syndrome includes a group of chromosomal disorders with at least one  additional  X  chromosome  in  male  karyotype  (46,XY).  Up  to  now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel ...
Alireza Parhiz
doaj  

Klinefelter-szindróma

, 2021
A Klinefelter-szindróma a férfiak körében leggyakrabban előforduló nemi kromoszómákat érintő rendellenesség. A KS betegek mindegyike egy vagy több számfeletti X komoszómával rendelkezik a normál 46,XY kariotípusú férfiakhoz képest.
Nyitrai, Tamara
core  

Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism [PDF]

, 2017
Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that ...
La Vignera, Sandro, Balercia, Giancarlo, Santi, Daniele, Rochira, Vincenzo, Francavilla, Sandro, Tatone, Carla, Corona, Giovanni, Galdiero, Mariano, Motta, Giovanna, Balercia, G., Accardo, Linda, Condorelli, Rosita A., GAROLLA, ANDREA, Rochira, V., Jannini, E. A., Calogero, Aldo, Giagulli, Vito, Radicioni, Antonio, Cangiano, Biagio, D’Andrea, Settimio, Simoni, Manuela, Tirabassi, Giacomo, Balercia, Antonio R. M., Maggi, Mario, Pizzocaro, Alessandro, On behalf of the Klinefelter ItaliaN Group, Null, Pasquali, Daniela, SELICE, RICCARDO, Giovannini, Lara, Vicari, Enzo, Lanfranco, Fabio, Pivonello, Rosario, Bonomi, Marco, FERLIN, ALBERTO, Esposito, Daniela, Pelliccione, Fiore, FORESTA, CARLO, Ferlin, A., Mambro, Antonella Di, Persani, Luca, Cordeschi, Giuliana, Francavilla, Felice, Tresoldi, Alberto Stefano, Fabbri, Andrea, Pasquali, D., Luciano, Luciano   +45 more
core   +1 more source

The Need for a Global Registry for Charting the Natural History of Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of individuals with this condition. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental, and cardiovascular manifestations.
Malika Alimussina, Joseph McElvaney, Corinna Grasemann, Jillian Bryce, Lise Aksglaede, Claudia Boettcher, Lexi Breen, Francesco Carlomagno, Sabine Hannema, Andrea M. Isidori, Inas Mazen, Anna Nordenstrom, S. Faisal Ahmed, Angela K. Lucas‐Herald   +13 more
wiley   +1 more source

Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders

, 2017
Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that ...
Bonomi, M, D'Andrea, S, Pizzocaro, A, FRANCAVILLA, Sandro, Jannini, Ea, Pivonello, R, Tirabassi, G, Garolla, A, Calogero, A, TATONE, Carla, Ferlin, A, Esposito, D, Pasquali, D, Vicari, E., Cangiano, B, Motta, G, Luciano, L, Selice, R, Giagulli, V, Simoni, M, G, Klinefelter ItaliaN G.r.o.u.p. Collaborators: Balercia, Corona, G, Lanfranco, F, Rochira, V, Foresta, C, Radicioni, A, Fabbri, A, Tresoldi, As, La Vignera, S, Pelliccione, F, Cordeschi, G, Maggi, M, Accardo, L, Balercia, Ar, Giovannini, L, Balercia, G, Persani, L, Galdiero, M, FRANCAVILLA, Felice, Condorelli, Ra, Mambro, Ad, Santi, D   +41 more
core   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, EarlyView.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

Primary Extragonadal Germ Cell Tumors in Klinefelter Syndrome: 10-Years of Experience from a Single Institute

Clinical Pediatric Hematology-Oncology, 2020
Background : : Approximately 8% of male patients presenting with primary mediastinal germ cell tumors (GCTs) have Klinefelter syndrome (KS), while patients diagnosed with retroperitoneal GCTs also exhibit a range of chromosomal abnormalities.
Yura Kim, Won Kee Ahn, Jung Woo Han, Seung Min Hahn, Seung Yeon Kwon, Chuhl Joo Lyu   +5 more
doaj   +1 more source

A patient with thyroid hemiagenesis and Klinefelter syndrome

, 2004
Klinefelter syndrome (46, XXY) is the most common cause of male hypogonadism, and it can be seen together with several endocrinologic diseases such as diabetes mellitus, osteoporosis, and various thyroid diseases.
Balcy, M.K., Karayalçyn, Ü., Bircan, Y., Günay, G., Altunbaş, H., Semiz, Süleyman   +5 more
core   +1 more source

Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT In some rare instances, patients with 47,XYY syndrome can be short in height, accompanied by hypogonadism without the characteristic tall stature. In cases where there is delayed puberty and unusual growth pattern, a complete endocrine work‐up, including GnRH and hCG stimulation tests, along with chromosome studies, is vital.
Muhammad Hassaan Javaid, Ayesha Ahmad, Amna Ahmad, Muhammad Ajmal Khamosh, Muhammad Hanzla   +4 more
wiley   +1 more source

A combined form of hypothyroidism in pubertal patients with non-mosaic Klinefelter syndrome

, 2016
Klinefelter syndrome has been associated with thyroid abnormalities, the genesis of which is not yet fully clear. The aim of this study was to evaluate thyroid function in Klinefelter syndrome subjects during the pubertal period.
LENZI, Andrea, TAHANI, NATASCIA, Matteo, Spaziani, RUGA, GILDA, RADICIONI, Antonio, Radicioni, Antonio Francesco, GRANATO, SIMONA, PANIMOLLE, FRANCESCA, ANZUINI, Antonella, Spaziani, Matteo   +9 more
core   +1 more source