Results 31 to 40 of about 21,834 (238)

Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

Urology Case Reports, 2016
Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development.
Russell E.N. Becker, Ardavan Akhavan
doaj   +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

Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development

Italian Journal of Pediatrics, 2022
Background Over 100 mutations in the SRD5A2 gene have been identified in subjects with 46,XY disorder of sex development (DSD). Exploration of SRD5A2 mutations and elucidation of the molecular mechanisms behind their effects should reveal the functions ...
Liwei Li, Junhong Zhang, Qing Li, Li Qiao, Pengcheng Li, Yi Cui, Shujun Li, Shirui Hao, Tongqian Wu, Lili Liu, Jianmin Yin, Pingsheng Hu, Xiaowei Dou, Shuping Li, Hui Yang   +14 more
doaj   +1 more source

A parthenogenetic maternal and double paternal contribution to an ovotesticular disorder of sex development [PDF]

, 2014
BACKGROUND: An ovotesticular disorder of sex development (OT-DSD) was rarely found in human. The mechanism causing such condition is poorly understood. We hereby reported a 11-year-old child with OT-DSD and a karyotype 46,XX/46,XY, a single maternal and ...
Cui Zhang, Hong-Liu Gao, Na Li, Qiu-Yue Wu, Tian-Fu Li, Wei-Ping Wang, Wei-Wei Li, Xiao-Jun Li, Xin-Yi Xia, Ying-Xia Cui   +9 more
core   +1 more source

Analysis of Four Polymorphisms Located at the Promoter of the Estrogen Receptor Alpha ESR1 Gene in a Population With Gender Incongruence [PDF]

, 2020
[Abstract] Introduction: Gender incongruence defines a state in which individuals feel discrepancy between the sex assigned at birth and their gender. Some of these people make a social transition from male to female (transwomen) or from female to male ...
Almaraz, Mari Cruz, Cortés-Cortés, Joselyn, Delgado-Zayas, Enrique, Esteva, Isabel, Fernández, Rosa, Guillamón, Antonio, Gómez-Gil, Esther, Pásaro, Eduardo, Ramírez, Karla   +8 more
core   +1 more source

Modulatory activity of testosterone on growth pattern and IGF-1 levels in vanishing testis syndrome: a case report during 15 years of follow-up

BMC Endocrine Disorders, 2023
Background The vanishing testis syndrome (VTS), is a 46, XY disorder of sex development (46, XY DSD) and is characterized by the absence of testis in a 46, XY subject with male genitalia, gonadal dysgenesis and consequent hypergonadotropic hypogonadism ...
Marta Franco, Keyvan Khorrami Chokami, Manuela Albertelli, Claudia Teti, Francesco Cocchiara, Federico Gatto, Carlo Trombetta, Diego Ferone, Mara Boschetti   +8 more
doaj   +1 more source

Sex assignment in conditions affecting sex development [PDF]

, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +1 more source

ENVIRONMENTAL AND GENETIC EVALUATION IN 46,XY DISORDERS OF SEX DEVELOPMENT [PDF]

Journal of Environmental Science, 2019
The phenotype of Disorders of Sex Development (DSD)patients depends on many factors including the presence of Copy Number Variation (CNVs) of different genes. The unbalanced rearrangement and the presence of deletions or duplications affect dramatically the phenotypic sex.
Shereen A. Abdelkader, Moustafa H. Ragab, Hala Awadallah, Alaa Kh. Kamel, Inas M. Mazen   +4 more
openaire   +1 more source

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development [PDF]

Genetics in Medicine, 2018
Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.Homozygosity mapping and whole-exome sequencing revealed an ESR2 variant in an individual with syndromic 46,XY DSD.
Dorien, Baetens, Tülay, Güran, Berenice B, Mendonca, Nathalia L, Gomes, Lode, De Cauwer, Frank, Peelman, Hannah, Verdin, Marnik, Vuylsteke, Malaïka, Van der Linden, Zeynep, Atay, Abdullah, Bereket, Ronald R, de Krijger, Katleen de, Preter, Sorahia, Domenice, Serap, Turan, Hans, Stoop, Leendert H, Looijenga, Karolien, De Bosscher, Martine, Cools, Elfride, De Baere   +19 more
openaire   +2 more sources

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence. [PDF]

, 2014
Mutations in the coding sequence of SOX9 cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions, and duplications within a ∼2 Mb region upstream of SOX9 can
Abadie, V., Amiel, J., Ansari, M., Attanasio, C., Benko, S., Bhatia, S., FitzPatrick, D., Goldenberg, A., Gordon, C.T., Kleinjan, D.A., Lyonnet, S., Munnich, A., Pennacchio, L.A., Tan, T.Y., Temple, I.K., van Heyningen, V., Visel, A.   +16 more
core   +3 more sources