Results 51 to 60 of about 971 (183)

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

design, methodology, recruitment, data quality and study population [PDF]

, 2017
Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Bouvattier, Claire, Claahsen-van der Grinten, Hedi, Cohen-Kettenis, Peggy, Gehrmann, Katharina, Nordenstrom, Anna, Pienkowski, Catherine, Roehle, Robert, Szarras-Czapnik, Maria, Thyen, Ute, Thyen, Ute   +9 more
core   +1 more source

Cytogenetic analysis and SRY gene detection in four moroccan brothers with Disorder of sex development [PDF]

, 2021
The objective of this study is to determine the genetic cause of the disorder of sex development on Moroccan family. Indeed, the genomics and human genetics laboratory at the Pasteur Institute of Morocco recruited four brothers with ambiguous genitalia ...
BARAKAT, Abdelhamid, CHAROUTE, Hicham, ELKARHAT, Zouhair, NAASSE, Yassine, ROUBA, Hassan   +4 more
core   +2 more sources

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort [PDF]

, 2016
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic ...
Bergman, P., Bouty, A., Brown, J., Cameron, F., Eggers, S., et al., Grover, S., Heloury, Y., Hewitt, J., Hutson, J., Kimber, C., Knarston, I., Lambeth, L., O'Connell, M., Ohnesorg, T., Robevska, G., Sadedin, S., Tan, T., van den Bergen, J., Werther, G., Zacharin, M.   +20 more
core   +1 more source

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

International Journal of Endocrinology, 2016
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center.
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior   +21 more
doaj   +1 more source

“Spectrum of 46 XY disorders of sex development”: A Hospital-based Cross-sectional Study

Indian Journal of Endocrinology and Metabolism, 2020
Background: Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating ...
Samiran Das, Uma K Saikia, Kandarpa K Saikia, Dipti Sarma, Bipul K Choudhury, Ashok K Bhuyan, Abhamoni Baro, Darvin V Das, Sonali Appaiah   +8 more
doaj   +1 more source

Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes

Yearbook of Paediatric Endocrinology, 2020
AbstractIn mice, male sex determination depends on FGF9 signalling via FGFR2c in the bipotential gonads to maintain the expression of the key testis gene SOX9. In humans, however, while FGFR2 mutations have been linked to 46,XY disorders of sex development (DSD), the role of FGF9 is unresolved.
Bird, Anthony D., Croft, Brittany M., Harada, Masayo, Tang, Lingyun, Zhao, Liang, Ming, Zhenhua, Bagheri-Fam, Stefan, Koopman, Peter, Wang, Zhugang, Akita, Keiichi, Harley, Vincent R.   +10 more
openaire   +3 more sources

Should CAH in Females Be Classified as DSD? [PDF]

, 2016
Great controversies and misunderstandings have developed around the relatively recently coined term disorders of sex development or DSD. In this article we question the wisdom of including XX individuals with congenital adrenal hyperplasia (CAH) in the ...
Barbara M. Ludwikowski, Ricardo González   +1 more
core   +2 more sources

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