Results 41 to 50 of about 3,493 (177)

Clinical сase of disorder of sex development with karyotype 47XYY

Медицинский вестник Юга России, 2023
Disorder of sex development (DSD) is a term used to refer to congenital disorders that led to atypical structure of the genitals. The cause of DSD is a disorder of the embryonic development of the reproductive system due to chromosomal, genetic pathology
M. R. Shaydullina, N. R. Akramov, F. V. Valeeva, Z. R. Alimetova, E. V. Kolbasina   +4 more
doaj   +1 more source

Gonadal mosaicism for incontinentia pigmenti in a healthy male. [PDF]

Journal of Medical Genetics, 1995
Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP.
T T, Kirchman, M L, Levy, R A, Lewis, M H, Kanzler, D L, Nelson, A E, Scheuerle   +5 more
openaire   +2 more sources

Machine Learning‐Based Prediction of Sperm Retrieval Outcomes in Patients With Klinefelter Syndrome: A Multicenter Study With External Validation

Andrology, EarlyView.
ABSTRACT Background The Klinefelter syndrome is a common genetic cause of male infertility, and testicular sperm extraction (TESE) enables sperm retrieval in a subset of affected patients. However, predicting TESE success remains challenging due to the heterogeneous clinical and endocrinological presentation of the Klinefelter syndrome.
Murat Gül, Ali Şahin, Cevahir Özer, Mesut Altan, Tansu Güdelci, Kadir Can Sahin, Mehmet Hamza Gültekin, Muhammed Arif İbis, Mesut Berkan Duran, Burak Sivaslıoğlu, Eray Hasırcı, Mert Kılıç, Ali Can Albaz, Gökhan Çeker, Gianmaria Salvio   +14 more
wiley   +1 more source

Ovotesticular Disorder of Sex Development with 46,XX/47,XXY Mosaicism: Challenges in Diagnosis, Gender Assignment, Gonadal Preservation, and Long-Term Oncologic Surveillance – A Case Report

Endocrinology Insights
Introduction: Ovotesticular disorder of sex development (DSD) is a rare condition, most commonly associated with a 46,XX karyotype. Mosaic karyotypes such as 46,XX/47,XXY are extremely uncommon and pose unique diagnostic and management ...
Kazuyoshi Johnin, Katsuyuki Matsui, Suzuko Moritani, Shiori Fujimoto, Daichi Johnin, Ryosuke Kikui, Yuri Mori, Kenichi Kobayashi, Tetsuya Yoshida, Susumu Kageyama   +9 more
doaj   +1 more source

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

Andrology, EarlyView.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede, George Kanakis, Ewa Rajpert‐De Meyts, Davor Jezek, Ferran Algaba, Gert Dohle, Jolanta Slowikowska‐Hilczer, Sabine Kliesch, Hermann M. Behre, Csilla Krausz, Dimitrios G. Goulis, Niels Jørgensen   +11 more
wiley   +1 more source

Children Born Using Ejaculated Sperm From Men With Klinefelter Syndrome. Is Sperm Production Associated With Testicular Volume?

Andrology, EarlyView.
ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley   +1 more source

A rare cause of nephrotic syndrome

Saudi Journal of Kidney Diseases and Transplantation, 2020
Classical Alport syndrome is a rare X-linked disease of males (85%) presenting early with hematuria, ocular, and hearing defects. Proteinuria and renal failure are less common in the early stages. Here, we report the case of a young female with nephrotic
Remi George Thomas, R P Senthilkumar, Balaraman Velayudham, C Vasudevan, Thirumalvalavan Murugesan   +4 more
doaj   +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

Turner syndrome masquerading as normal early puberty [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
Approximately 50% of patients with Turner syndrome (TS) have complete loss of one X chromosome, whereas the rest of the patients with TS display mosaicism or structural abnormalities of the X chromosome.
Yong Hee Hong, Young Lim Shin
doaj   +1 more source

High trophic niche overlap between sympatric peacock basses (Cichliformes: Cichlidae: Cichla): Concordant findings from three dietary analysis methods

Journal of Fish Biology, EarlyView.
Abstract Dietary analysis has contributed to our understanding of animal niches, interspecific interactions, community structure and the flow of matter and energy in food webs. We employed three methods of dietary analysis to estimate trophic niche overlap between two peacock bass species, Cichla cataractae and Cichla ocellaris, across sympatric ...
Benton L. Fry, Hayden C. Roberts, Kirk O. Winemiller   +2 more
wiley   +1 more source