Results 41 to 50 of about 3,198 (197)

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

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

Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis

Taiwanese Journal of Obstetrics and Gynecology, 2022
Swyer syndrome, or 46, XY complete gonadal dysgenesis, is a disorder of human sexual development which present with female external genitalia, lack of female reproductive organs, and a 46, XY karyotype. Many genes that participate in human sexual development have been implicated in the pathogenesis of 46, XY gonadal dysgenesis.A 18-year-old ...
Pei-Hsiu Yu, Meng-Che Tsai, Chun-Ting Chiang, Han-Yu Wang, Pao-Lin Kuo   +4 more
openaire   +3 more sources

Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing

Asian Journal of Andrology, 2021
46,XY disorders of sex development (DSD) is characterized by incomplete masculinization genitalia, with gonadal dysplasia and with/without the presence of Müllerian structures. At least 30 genes related to 46,XY DSD have been found. However, the clinical
Bing-Qing Yu, Zhao-Xiang Liu, Yin-Jie Gao, Xi Wang, Jiang-Feng Mao, Min Nie, Xue-Yan Wu   +6 more
doaj   +1 more source

Disorders of sex development: a study of 194 cases

Endocrine Connections, 2018
Objective: To study the clinical profile and the management of patients with disorders of sex development (DSD). Design and setting: Retrospective study from a tertiary care hospital of North India.
R Walia, M Singla, K Vaiphei, S Kumar, A Bhansali   +4 more
doaj   +1 more source

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development [PDF]

, 2011
It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD.
Wallace, A. Michael, Miles, HL, Louise Izatt, Michael Wallace, A, A. Michael Wallace, Sue Elford, Sanders, C, Simmonds, M, Edwards, Zoe, Gerry Conway, Elford, S, Watt, Andrew, Les Perry, John C. Achermann, Sanders, C., O'Toole, S, Balen, Adam, Balen, A.H., Miles, H.L., Miles, Harriet L., Sanders, Caroline, Krone, Nils, Izatt, L, Willis, Debbie, Ieuan A. Hughes, Arl, W, Adam H. Balen, Arlt, W., Wiebke Arlt, Willis, D, Debbie Willis, Ahmed, S.F., S. Faisal Ahmed, Edwards, ZL, Edwards, Z.L., Hughes, Ieuan A., Perry, Les, Margaret Simmonds, O'Toole, S., Ahmed, SF, Faisal Ahmed, S, Achermann, John C, Elford, Sue, Conway, Gerry, Wallace, AM, Edwards, Zoe L., Miles, Harriet, Willis, D., Wallace, A.M., Watt, A., Nils Krone, Hughes, I.A., Simmonds, M., Achermann, JC, Izatt, Louise, O'Toole, Stuart, Hughes, IA, Krone, N, Perry, L., Simmonds, Margaret, Balen, AH, Hughes, Ieuan A, Elford, S., Conway, G., Ahmed, S. Faisal, Zoe L. Edwards, Stuart O’Toole, Krone, N., Perry, L, Arlt, Wiebke, Caroline Sanders, Andrew Watt, Achermann, John C., Balen, Adam H., O’Toole, Stuart, Achermann, J.C., Harriet L. Miles, Conway, G, Izatt, L., Watt, A   +79 more
core   +1 more source

46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature

Diagnostic Pathology, 2020
Background Patients with 46, XY disorder of sex development (DSD) are predisposed to the development of gonadal tumors, particularly germ cell tumors and gonadoblastoma.
Jiangying Zhao, Jiao Peng, Sisi He, Jia Yang, Xiaojun Pang   +4 more
doaj   +1 more source

Genetics of 46,XY gonadal dysgenesis

, 2022
International audienceIn 46,XY men, testis is determined by a genetic network(s) that both promotes testis formation and represses ovarian development. Disruption of this process results in a lack of testis-determination and affected individuals present ...
Mcelreavey, Ken, Elzaiat, Maëva, Bashamboo, Anu   +2 more
core   +1 more source

Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis. [PDF]

J Assist Reprod Genet, 2015
In 46, XY individuals, the testicular development is initiated by the expression of SRY, which sets into motion a chain of signal transduction events leading to development of the male external and internal genitalia. In the absence of SRY, ovarian development occurs, associated with a female phenotype [1].
Jaillard S, Bashamboo A, Pasquier L, Belaud-Rotureau MA, McElreavey K, Odent S, Ravel C.   +6 more
europepmc   +4 more sources

Frequency of associated features in 46,XY and 46,XX Differences of sexual development (DSD) patients

, 2022
Context: The focus of care in differences of sexual development (DSD) is mainly directed towards sex and gender development. Associated features are scarcely described. Widening the phenotypic spectrum of DSD might help to elucidate molecular aetiologies.
LUPI, V.
core