Results 61 to 70 of about 50,074,769 (205)

Azoospermia, Atrophy, and Asymmetry: Unilateral Sertoli Cell Tumor as a Rare and Overlooked Cause of Male Infertility: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Sertoli cell tumors are uncommon sex‐cord stromal tumors making up < 2% of testicular tumors and have been reported to be associated with endocrine dysfunction that could compromise male fertility. Herein, we present a 34‐year‐old Pakistani male with primary infertility, azoospermia, enlargement of right testis, and contralateral severe ...
Rao Nouman Ali, Wajiha Irfan, Sohaib Irfan, Masroor Ahmed Khan, Maria Bibi, Umair Ali, Muhammad Hassaan Javaid, Christian Tague   +7 more
wiley   +1 more source

gonadal dysgenesis

, 2021
Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been ...
Nathalie Escande‐Beillard, Escande-Beillard, Nathalie, Shalini S. Nayak, Katta Mohan Girisha, Serpil Eraslan, Hülya Kayserili, Ledig, Susanne, Girisha, Katta Mohan, Susanne Ledig, Azakli, Hulya, Anju Shukla, Umut Altunoglu, Eraslan, Serpil, Shukla, Anju, Esra Börklü, Borklu, Esra, Kennerknecht, Ingo, Ingo Kennerknecht, Nayak, Shalini S., Altunoglu, Umut, Hülya Azaklı, Kayserili, Hulya   +21 more
core   +1 more source

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

, 2021
Context: Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively.
Yesil, Gozde, SEVEN MENEVŞE, TUBA, Mackenzie, Matthew, Eker, Hatice Kocak, GÜRPINAR TOSUN, BUŞRA, Warr, Nick, Abali, Zehra Yavas, ÇİÇEK, DİLEK, Poyrazoglu, Sukran, Simon, Michelle, Bas, Firdevs, Teboul, Lydia, Helvacioglu, Didem, Greenfield, Andy, BEREKET, ABDULLAH, DEMİRCİOĞLU, SERAP, KAYGUSUZ, SARE BETÜL, ELTAN, MEHMET, HATİPOĞLU, NİHAL, GÜRAN, TÜLAY, Reeves, Richard, DİREK, GÜL, Darendeliler, Feyza, Menevse, Tuba Seven, YEŞİL SAYIN, Gözde, Tosun, Busra Gurpinar, Turan, Serap, Lydia Teboul, Didem Helvacioglu, Tulay Guran, Nihal Hatipoglu, Busra Gurpinar Tosun, Feyza Darendeliler, Matthew Mackenzie, Hatice Kocak Eker, Abdullah Bereket, Dilek Cicek, Gul Direk, Richard Reeves, Tuba Seven Menevse, Sukran Poyrazoglu, Sare Betul Kaygusuz, Mehmet Eltan, Gozde Yesil, Nick Warr, Zehra Yavas Abali, Firdevs Bas, Michelle Simon, Andy Greenfield, Serap Turan   +49 more
core   +2 more sources

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

Case Reports in Endocrinology
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G. de los Santos Aguilar, Luis David Sol Oliva   +5 more
doaj   +1 more source

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. [PDF]

PLoS ONE, 2012
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in ...
Remko Hersmus, Yvonne G van der Zwan, Hans Stoop, Pascal Bernard, Rajini Sreenivasan, J Wolter Oosterhuis, Hennie T Brüggenwirth, Suzan de Boer, Stefan White, Katja P Wolffenbuttel, Marielle Alders, Kenneth McElreavy, Stenvert L S Drop, Vincent R Harley, Leendert H J Looijenga   +14 more
doaj   +1 more source

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino, Serena Scalise, Chiara Di Bella, Maria Angela La Rosa, Basilia Piraino, Marco Calabrò, Mattia Gentile, Rosaria Maddalena Ruggeri, Emanuela Esposito, Silvana Briuglia, Salvatore Cannavò   +10 more
wiley   +1 more source

Clinical Features of Malignant Ovarian Germ Cell Tumors According to Demographic and Pathologic Characteristics

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims Malignant ovarian germ cell tumors (MOGCTs) are aggressive cancers affecting mainly young women, in whom fertility preservation is important. Diagnosis is often delayed because early symptoms are non‐specific, leading to advanced disease or emergency surgery that may limit optimal staging and fertility‐sparing treatment. As
Jila Agah, Elham Navipour, Setareh Akhavan, Somaye Norouzi   +3 more
wiley   +1 more source

Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development

Frontiers in Endocrinology
Differences of sex development (DSD) are a group of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. DHX37, a gene involved in ribosome biogenesis, located on chromosome 12, at the 12q24.31 region, has ...
Abeer Alabduljabbar, Sara Abid, Dania Farooq, Sara Aljazaeri, Yara Khamag, Raghad Alhuthil, Latifah Alfahad, Afaf Alsagheir, Afaf Alsagheir   +8 more
doaj   +1 more source

Burden of Liver Disease Among Individuals With Turner Syndrome and Klinefelter Syndrome: A Comprehensive Perspective

Chronic Diseases and Translational Medicine, Volume 12, Issue 1, Page 39-48, March 2026.
ABSTRACT The liver is increasingly recognized as a major regulator of systemic cardio‐renal‐metabolic health. Evidence is mounting that sex‐chromosome dosage per se itself, independent of gonadal sex hormones, modulates hepatic physiology and liver disease risk.
Mohamad Jamalinia, Amedeo Lonardo, Ralf Weiskirchen   +2 more
wiley   +1 more source

Gonadal dysgenesis 46,XY DSD associated with variants in the MAP3K1 gene

Problems of Endocrinology, 2020
Disorders of sex development (DSDs) are congenital conditions in which phenotype does not correspond to chromosomal and gonadal sex. To date, the etiology of DSD is established only in half of the cases. With the development of modern methods of molecular genetic diagnostics in the last decade, a number of new regulators of gonad differentiation have ...
N. Y. Kalinchenko, A. N. Tiulpakov
openaire   +3 more sources