Results 61 to 70 of about 1,109,166 (346)

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation [PDF]

, 2012
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in ...
Alders, M. (Mariëlle), Bernard, P. (Pascal), Boer, S. (Suzan) de, Brüggenwirth, H.T. (Hennie), Drop, S.L.S. (Stenvert), Harley, V.R. (Vincent), Hersmus, R. (Remko), Looijenga, L.H.J. (Leendert), McElreavy, K. (Kenneth), Oosterhuis, J.W. (Wolter), Sreenivasan, R. (Rajini), Stoop, J.A. (Hans), White, S.J. (Stefan), Wolffenbuttel, K.P. (Katja), Zwan, Y.G. (Yvonne ) van der   +14 more
core   +1 more source

Mental, behavioral and neurodevelopmental disorders in the ICD-11 : An international perspective on key changes and controversies [PDF]

, 2020
The Author(s). 2020Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, andreproduction in any ...
Berk, Michael, Brewin, Chris, Briken, Peer, Cohen-Kettenis, Peggy T, de Jonge, Peter, de Vries, Ymkje Anna, Fineberg, Naomi, Gaebel, Wolfgang, Grilo, Carlos M, Maercker, Andreas, Maj, Mario, Pike, Kathleen, Reed, Geoffrey M., Roest, Annelieke, Stein, D.J., Szatmari, Peter, Vieta, Eduard   +16 more
core   +9 more sources

Comprehensive transcriptome analysis of hypothalamus reveals genes associated with disorders of sex development in pigs

Journal of Steroid Biochemistry and Molecular Biology, 2020
XX sex reversal, also called XX disorders of sex development (XX-DSD), is a condition affecting the development of the gonads or genitalia, and is relatively common in pigs.
Shuwen Tan, Yi Zhou, Haiquan Zhao, Jinhua Wu, Hui Yu, Yin Yang, Yalan Yang, Huabin Zhao, Hua Li   +8 more
semanticscholar   +1 more source

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing

Orphanet Journal of Rare Diseases, 2021
Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu   +5 more
doaj   +1 more source

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes.
Yena Lee, Jin-Ho Choi, Arum Oh, Gu-Hwan Kim, Sook-Hyun Park, Jung Eun Moon, Cheol Woo Ko, Chong-Kun Cheon, Han-Wook Yoo   +8 more
doaj   +1 more source

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

European Journal of Endocrinology, 2018
The differential diagnosis of differences or disorders of sex development (DSD) belongs to the most complex fields in medicine. It requires a multidisciplinary team conducting a synoptic and complementary approach consisting of thorough clinical ...
L. Audí, S. Ahmed, N. Krone, M. Cools, K. McElreavey, P. Holterhus, A. Greenfield, A. Bashamboo, O. Hiort, S. Wudy, R. McGowan   +10 more
semanticscholar   +1 more source

A guide to differences/disorders of sex development/intersex in children and adolescents.

Australian Journal of General Practice, 2020
BACKGROUND Differences/disorders of sex development (DSD) or 'intersex' encompass a broad range of congenital variations in the complex pathways involved in the development of sex characteristics.
Komal A Vora, S. Srinivasan
semanticscholar   +1 more source

Female hypospadias in combination with stenosis of artificial introitus in a patient with idiopathic congenital virilization

Андрология и генитальная хирургия, 2018
Presented clinical case demonstrates the complexity of diagnosis of the female hypospadias and management of patients with disorders of sex development.
A. V. Anikiev, A. B. Okulov, E. A. Volod’ko, D. N. Brovin, V. A. Peterkova   +4 more
doaj   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Achermann, J.C., Akkurt, I., Biebermann, H., Cetindag, C., Grüters, A., Hiort, O., Köhler, B., Lin, L., Mazen, I., Rossi, R.   +9 more
core   +2 more sources

Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries

Psychosomatic Medicine, 2019
Supplemental digital content is available in the text. ABSTRACT Objective The aim of the study was to evaluate psychiatric symptoms among 1022 persons with various disorders of sex development (DSDs).
A. D. de Vries, R. Roehle, Louise Marshall, L. Frisén, T. C. van de Grift, B. Kreukels, C. Bouvattier, B. Köhler, U. Thyen, A. Nordenström, M. Rapp, P. Cohen-Kettenis   +11 more
semanticscholar   +1 more source