Results 31 to 40 of about 1,849 (152)

A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. [PDF]

Int J Surg Case Rep, 2015
IntroductionWe present a rare patient case with mixed gonadal dysgenesis as a disorder of sex development (DSD) and a new pattern of chromosome in the karyotype, 45, X/46, X, +mar(Y).Presentation of caseA ten-year-old boy, raised in a nursery center ...
Soheilipour F, Abed O, Behnam B, Abdolhosseini M, Alibeigi P, Pazouki A.   +5 more
europepmc   +2 more sources

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

Journal of Pediatric Research, 2022
The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome.
Özge Köprülü, Sezer Acar, Kadri Murat Erdoğan, Özlem Nalbantoğlu, Tarık Kırkgöz, Gülçin Arslan, Beyhan Özkaya, Yaşar Bekir Kutbay, Behzat Özkan   +8 more
doaj   +1 more source

Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report

Journal of Nepal Medical Association, 2019
There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.
Sundar Shrestha, Niroj Banepali, Rakesh Sthapit, Dipesh Agrawal   +3 more
doaj   +1 more source

Sperm Telomere Interactions Are Impaired in Testicular Cancer Before and After Adjuvant Therapy

Andrology, EarlyView.
ABSTRACT Background No study has yet explored telomere length or interaction in sperm nuclei of testicular cancer (TC) patients exposed to chemotherapy or radiotherapy. However, sperm telomere dynamics have emerged as a potential marker in male infertility.
Benoit Berby, Sylvianne Hennebicq, Jacqueline Saias, Florence Brugnon, Isabelle Berthaut, Myriam Daudin, Louis Bujan, Ludovic Dumont, Christine Rondanino, Aurélie Feraille, Nathalie Rives   +10 more
wiley   +1 more source

Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review

Current Oncology, 2022
A female phenotype with strip-like gonads, 46, XY pure gonadal dysgenesis (PGD) has a high tendency to develop into gonadal germ cell tumors. We described one patient with 46, XY PGD, who had a gonadal mixed germ cell tumor (GCT) and acute lymphoblastic ...
Xinyue Zhang, Ying Zhang, Jinhui Wang, Jie Yang, Shuangni Yu, Min Yin, Sijian Li, Jiaxin Yang   +7 more
doaj   +1 more source

Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Klinefelter's syndrome (KS; 47, XXY) is associated with an altered risk profile for malignancies compared with non‐KS males. In particular, several reports have noted a striking association between KS and extragonadal germ cell tumours (EGCTs), especially in the mediastinum, whereas the risk of testicular germ cell tumours (TGCTs ...
Aksh Tailor, Oishee Bandyopadhyay, Nahian Ahmed, Kapishan Shanmugathasan, Alice Cotton, ChingHao Chen, Tet Yap   +6 more
wiley   +1 more source

Clinical, etiological and laboratory profile of children with disorders of sexual development (dsd)-experience from a tertiary pediatric endocrine unit in western India

Indian Journal of Endocrinology and Metabolism, 2021
Objectives: To present the clinical profile, diagnostic work-up, and management of children with Disorders of Sexual Development (DSD).Materials and Methods: A retrospective study from a tertiary pediatric endocrine unit of western India.
Rahul Jahagirdar, Vaman Khadilkar, Ruma Deshpande, Nikhil Lohiya   +3 more
doaj   +1 more source

Broader Familial Cancer Risk in Relatives of Testicular Cancer Patients: Insights From Two Mediterranean Populations

Andrology, EarlyView.
ABSTRACT Background Familial clustering of testicular germ cell tumour (TGCT) is well‐established, whereas the risk of non‐testicular cancer among relatives remains inconsistent across studies. Objective To evaluate the overall and site‐specific cancer risk among first‐degree relatives and grandparents of TGCT patients compared to cancer‐free controls.
Csilla Krausz, Chiara Abrardo, Viktoria Rosta, Daniel Moreno‐Mendoza, Luca Bressan, Matteo Vannucci, Rebecca Passerotti, Arianna Meacci, Ginevra Farnetani, Viola Bonini, Giovanni Corona, Maria Grazia Fino, Eduard Ruiz‐Castañé, Antoni Riera‐Escamilla   +13 more
wiley   +1 more source

Prophylactic gonadectomy in children with mixed gonadal dysgenesis – a nine-year-old girl

, 2018
Gonadna disgeneza embrionalna je anomalija gonada. Može biti čista (Turnerov sindrom) ili miješana (mozaicizam). Miješani oblik s lozom stanica u kojoj se nalazi Y spolni kromosom, sklon je pojavi gonadoblastoma u displastičnim gonadama.
Bulić, Krešimir, Antabak, Anko, Bogović, Marko, Papeš, Dino, Marko Bogović, Dino Papeš, Blažević, Andrea, Andrea Blažević, Krešimir Bulić, Anko Antabak   +9 more
core   +1 more source

Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States

Frontiers in Endocrinology, 2023
ObjectiveSome individuals with differences of sex development (DSD) conditions undergo medically indicated prophylactic gonadectomy. Gonads of individuals with DSD can contain germ cells and precursors and patients interested in future fertility ...
Aisha L. Siebert, Aisha L. Siebert, Veronica Gomez-Lobo, Emilie K. Johnson, Emilie K. Johnson, Leena Nahata, Kyle E. Orwig, Louise C. Pyle, Selma F. Witchel, Courtney Finlayson, Monica M. Laronda, Monica M. Laronda   +11 more
doaj   +1 more source