Results 31 to 40 of about 1,174,652 (161)

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 non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects. [PDF]

PLoS One
SRD5A2 gene variants are associated with deficiency of steroid 5α-reductase type 2, which is an autosomal recessive disorder of sex development (DSD) present in 46,XY males with ambiguous genitalia.
Ramos L.
europepmc   +2 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   +1 more source

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

DHX37 and 46, XY DSD : A new Ribosomopathy?

, 2022
International audienceRecently, a series of recurrent missense variants in the RNA-helicase DHX37 have been reported associated with either 46,XY gonadal dysgenesis, 46,XY testicular regression syndrome (TRS), or anorchia.
Pailhoux, Eric, Bashamboo, Anu, Mcelreavey, Kenneth   +2 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

Clin Mol 46,XY DSD

, 2018
Molecular e General Data - 46,XY DSD Brazilian ...
Berenice B. Mendonca (307181), Rafael Batista (5856014)   +1 more
core   +1 more source

46,XY disorders of sex development (DSD)

, 2009
The term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical.
MENDONCA, Berenice Bilharinho, ARNHOLD, Ivo J. P., COSTA, Elaine M. F., DOMENICE, Sorahia   +3 more
core   +1 more source