Results 11 to 20 of about 118,141,604 (302)

Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1

Orphanet Journal of Rare Diseases, 2021
Background Dozens of genes are involved in 46, XY differences in sex development (DSD). Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene variant identified cannot fully explain the clinical heterogeneity of 46, XY DSD.
Yiping Cheng, Jing Chen, Xinli Zhou, Jiangfei Yang, Yiming Ji, Chao Xu   +5 more
doaj   +1 more source

Whose responsibility is it to talk with children and young people about intersex/differences in sex development? Young people’s, caregivers’ and health professionals’ perspectives

Frontiers in Urology, 2023
IntroductionOver the past two decades, there has been a shift from concealing diagnoses of sex development from impacted people to the broad principle of age-appropriate disclosure. This change is consistent with children’s rights and with general shifts
Katrina Roen, Tove Lundberg, Peter Hegarty, Lih-Mei Liao   +3 more
doaj   +1 more source

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

Molecular Genetics & Genomic Medicine, 2022
Background Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia.
Felipe Martins Elias, Mirian Yumi Nishi, Maria Helena Palma Sircili, Rafael Loch Bastista, Nathalia Lisboa Gomes, Maria Tereza Martins Ferrari, Elaine Maria Frade Costa, Francisco Tibor Denes, Berenice Bilharinho Mendonca, Sorahia Domenice   +9 more
doaj   +1 more source

Y It Matters—Sex Differences in Fetal Lung Development

Biomolecules, 2022
Within this review, sex-specific differences in alveolar epithelial functions are discussed with special focus on preterm infants and the respiratory disorders associated with premature birth.
Mandy Laube, Ulrich H. Thome
doaj   +1 more source

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development

Diagnostics, 2021
Differences in sex development (DSD) are often correlated with a genetic etiology. This study aimed to assess the etiology of DSD patients following a protocol of genetic testing. Materials and methods.
Diana Miclea, Camelia Alkhzouz, Simona Bucerzan, Paula Grigorescu-Sido, Radu Anghel Popp, Ionela Maria Pascanu, Victoria Cret, Cristina Ghervan, Ligia Blaga, Gabriela Zaharie   +9 more
doaj   +1 more source

Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience

Clinical and Experimental Obstetrics & Gynecology, 2023
Background: Turner syndrome (TS) is a well-known genetic condition associated with increased morbidity and mortality in adult patients. Accordingly, comprehensive guidelines for TS follow-up across the lifespan have been developed.
Ralitsa Robeva, Atanaska Elenkova, Sabina Zacharieva   +2 more
doaj   +1 more source

Sex-specific Mendelian randomisation to assess the causality of sex differences in the effects of risk factors and treatment: spotlight on hypertension [PDF]

, 2023
Hypertension is a key modifiable risk factor for cardiovascular disease. Several observational studies have found a stronger association of blood pressure and cardiovascular disease risk in women compared to men.
den Ruijter, Hester M, Peters, Sanne A E, de Ruiter, Sophie C, Schmidt, A Floriaan, Grobbee, Diederick E   +4 more
core  

Sex differences in semantic categorization [PDF]

, 2011
Sex differences in certain cognitive abilities, including aspects of semantic processing, are well established. However, there have been no reports investigating a sex difference in semantic categorization.
V. L. Pasterski, Zwierzynska, Karolina, Pasterski, Vickie, Estes, Zachary, K. Zwierzynska, Zachary Estes, Vickie Pasterski, Karolina Zwierzynska   +7 more
core   +1 more source

Sex differences in gene regulatory networks during mid-gestational brain development

Frontiers in Human Neuroscience, 2022
Neurodevelopmental disorders differ considerably between males and females, and fetal brain development is one of the most critical periods to determine risk for these disorders.
Victor Hugo Calegari de Toledo, Victor Hugo Calegari de Toledo, Arthur Sant'Anna Feltrin, André Rocha Barbosa, Ana Carolina Tahira, Helena Brentani, Helena Brentani   +6 more
doaj   +1 more source

A clinical approach to diagnosis of ambiguous genitalia

Journal of Indian Association of Pediatric Surgeons, 2019
Disorders of sex development (DSD) are a sensitive and stressful condition for the family as well as the treating physician to deal with. The main issue in managing such cases is sex assignment.
Kashish Khanna, Shilpa Sharma, Devendra K Gupta   +2 more
doaj   +1 more source