Results 31 to 40 of about 591 (138)

Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature

Case Reports in Pathology, Volume 2021, Issue 1, 2021., 2021
Disorder of sex development (DSD) is a rare condition with atypical development of chromosomal, gonadal, or anatomical sex. It is classified in different subgroups based on the patient’s karyotype, gonadal dysgenesis, and the appearance of the internal and external genitalia. Within the subgroups, the risk for developing neoplasms varies a lot.
Steffen Gretser, Maria-Noemi Welte, Frederik Roos, Jens Köllermann, Evelina Miele   +4 more
wiley   +1 more source

Ovotesticular disorder of sex development in a tertiary care center in North India: A single-center analysis over a 5-year period

National Journal of Clinical Anatomy, 2023
Background: Disorders of sexual development (DSD) encompass a group of congenital conditions characterized by diverse genotypic and phenotypic variations. Ovotesticular (OT) DSD is a distinctive subtype within this spectrum.
Sarita Chowdhary, Maneesha Upadhayaya, Gunjan Rai, Manpreet Kaur, Nitish Kumar Singh, Kanika Sharma, Ritesh Yadav, Bitan Naik, Shiv Prasad Sharma, Royana Singh   +9 more
doaj   +1 more source

Ovotesticular Disorder of Sex Development: An Unusual Presentation

Journal of Clinical Imaging Science, 2019
Disorder of sex development is an inclusive term that refers to any problem where the genital organ is atypical in relation to chromosomes or gonads. Ovotesticular disorder of sex development, which is formerly known as “true hermaphroditism,” is the most rare form among all disorders of sex development in humans.
Özdemir, Meltem, Kavak, Rasime Pelin, Yalcinkaya, Ihsan, Guresci, Kursat   +3 more
openaire   +2 more sources

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya. [PDF]

Clin Case Rep
ABSTRACT Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular ...
Omoaghe C.
europepmc   +2 more sources

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Frontiers in Endocrinology, 2020
Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH),
Nathalie Josso, Rodolfo A. Rey
doaj   +1 more source

SAT395 Gender Dysphoria In A Patient With Ovotesticular Disorder Of Sex Development

Journal of the Endocrine Society, 2023
Abstract Disclosure: T. Moreno: None. P. Rodrigues: None. S. Ribeiro: None. D.M. Carvalho: None. Introduction: Ovotesticular disorder of sex development (OT-DSD) is a rare condition characterized by the presence of both ovarian and testicular tissue in the gonads.
Moreno, Telma, Rodrigues, Pedro, Ribeiro, Sara, Carvalho, Davide M   +3 more
openaire   +1 more source

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

Molecular Genetics &Genomic Medicine, Volume 8, Issue 3, March 2020., 2020
We identified a number of 46,XY DSD individuals with variants in GATA4 and FOG2. Variant curation and functional analysis revealed the majority of these variants are not likely to be causative. Abstract Background GATA‐binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex that has been shown to ...
Jocelyn A. van den Bergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R. Grover, Philip B. Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R. Davis, Makato Ono, Vincent Harley, Sultana M. H. Faradz, Andrew H. Sinclair, Katie L. Ayers   +17 more
wiley   +1 more source

Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Molecular Genetics &Genomic Medicine, Volume 8, Issue 2, February 2020., 2020
Of 28,806 karyotypes analyzed in Ecuador, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%). Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%).
César Paz‐y‐Miño, Verónica Yumiceba, Germania Moreta, Rosario Paredes, Mónica Ruiz, Ligia Ocampo, Arianne Llamos Paneque, Catalina Ochoa Pérez, Juan Carlos Ruiz‐Cabezas, Jenny Álvarez Vidal, Idarmis Jiménez Torres, Ramón Vargas‐Vera, Fernando Cruz, Víctor Hugo Guapi N, Martha Montalván, Sara Meneses Álvarez, Maribel Garzón Castro, Elizabeth Lamar Segura, María Augusta Recalde Báez, María Elena Naranjo, Nina Tambaco Jijón, María Sinche, Pedro Licuy, Ramiro Burgos, Fabián Porras‐Borja, Gabriela Echeverría‐Garcés, Andy Pérez‐Villa, Isaac Armendáriz‐Castillo, Jennyfer M. García‐Cárdenas, Santiago Guerrero, Patricia Guevara‐Ramírez, Andrés López‐Cortés, Ana Karina Zambrano, Paola E. Leone   +33 more
wiley   +1 more source

Primary adrenal insufficiency: New genetic causes and their long‐term consequences

Clinical Endocrinology, Volume 92, Issue 1, Page 11-20, January 2020., 2020
Abstract Primary adrenal insufficiency (PAI) is a potentially life‐threatening condition that requires urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal hyperplasia (CAH) in childhood and autoimmune adrenal insufficiency in adolescence and adulthood, more than 30 other physical and genetics cause of PAI have been ...
Federica Buonocore, John C. Achermann
wiley   +1 more source

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2019
Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The differential diagnosis of these conditions is based on karyotype and pathological findings of the gonads. This study investigated the clinical
Yoon Myung Kim, Arum Oh, Kun-Suk Kim, Han-Wook Yoo, Jin-Ho Choi   +4 more
openaire   +3 more sources