Results 1 to 10 of about 2,072 (112)

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. [PDF]

PLoS ONE, 2018
BACKGROUND:MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficiency ...
Hirohito Shima, Mie Hayashi, Takashi Tachibana, Makoto Oshiro, Naoko Amano, Tomohiro Ishii, Hidenori Haruna, Maki Igarashi, Masafumi Kon, Ryuji Fukuzawa, Yukichi Tanaka, Maki Fukami, Tomonobu Hasegawa, Satoshi Narumi   +13 more
doaj   +2 more sources

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

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   +2 more sources

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

Frontiers in Endocrinology, 2018
Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also
Idoia Martinez De Lapiscina, Stefan Riedl, Amit V Pandey   +2 more
exaly   +3 more sources

One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria [PDF]

Orphanet Journal of Rare Diseases, 2021
Background 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is the gender assignment.
Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak, Chunxiu Gong   +7 more
doaj   +2 more sources

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis [PDF]

BMC Medical Genomics
Background The clinical phenotype and pathogenic mechanism of 46,XY disorders of sex development (DSD) are complex, and several pathogenic variants are identified by next-generation sequencing.
Cui Li, Binyu Yang, Xu Li, Shuai Zhen, Xiaogang Liu, Pingping Li, Wei Chen, Xiaoyan Wang, Mei Xue   +8 more
doaj   +2 more sources

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Biomolecules, 2023
Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD).
Atsushi Hattori, Maki Fukami
doaj   +1 more source

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

Reproductive Biology and Endocrinology, 2023
Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male ...
Khouloud Rjiba, Soumaya Mougou-Zerelli, Imen hadj Hamida, Ghada Saad, Bochra Khadija, Afef Jelloul, Wafa Slimani, Yosra Hasni, Sarra Dimassi, Hela Ben khelifa, Amira Sallem, Molka Kammoun, Hamza Hadj Abdallah, Moez Gribaa, Joelle Bignon-Topalovic, Sami Chelly, Hédi Khairi, Mohamed Bibi, Maha Kacem, Ali Saad, Anu Bashamboo, Kenneth McElreavey   +21 more
doaj   +1 more source

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development

Diagnostics, 2023
Background: Cytogenomic methods have gained space in the clinical investigation of patients with disorders/differences in sexual development (DSD). Here we evaluated the role of the SNP array in achieving a molecular diagnosis in Brazilian patients with ...
José Antonio Diniz Faria, Daniela R. Moraes, Leslie Domenici Kulikowski, Rafael Loch Batista, Nathalia Lisboa Gomes, Mirian Yumie Nishi, Evelin Zanardo, Carolina Kymie Vasques Nonaka, Bruno Solano de Freitas Souza, Berenice Bilharinho Mendonca, Sorahia Domenice   +10 more
doaj   +1 more source

Disorders of Sex Development of Adrenal Origin

Frontiers in Endocrinology, 2021
Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia.
Gabriela P. Finkielstain, Ana Vieites, Ignacio Bergadá, Rodolfo A. Rey, Rodolfo A. Rey   +4 more
doaj   +1 more source

Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development

Endocrine Connections, 2023
Although hyperandrogenism is a frequent cause of consultation in adolescent girls, more severe forms with virilization must lead to suspicion of an adrenal or ovarian tumor. However, they may also reveal a 46,XY disorder of sexual development (DSD). Here,
A Bergougnoux, L Gaspari, M Soleirol, N Servant, S Soskin, S Rossignol, K Wagner-Mahler, J Bertherat, C Sultan, N Kalfa, F Paris   +10 more
doaj   +1 more source