Results 21 to 30 of about 2,351 (123)

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

Serum LH/FSH ratios in 87 infants with differences of sex development

Endocrine Connections, 2023
The ratio between luteinizing hormone (LH) and follicle-stimulating hormone (FSH) has previously been described as an excellent marker of sex in healthy infants. However, LH/ FSH remains not fully described in patients with differences of sex development
Marie Lindhardt Ljubicic, Trine Holm Johannsen, Margit Bistrup Fischer, Emmie N Upners, Alexander S Busch, Katharina M Main, Anna-Maria Andersson, Casper P Hagen, Anders Juul   +8 more
doaj   +1 more source

Complete Androgen Insensitivity Syndrome: A Problem-Based Learning Case

MedEdPORTAL, 2016
Introduction To address the lack of medical education on lesbian, gay, bisexual, transgender, queer (LGBTQ), and difference in sex development–affected (DSD-affected) individuals, the University of Louisville initiated the eQuality project.
Adam Neff, Suzanne Kingery
doaj   +1 more source

When to address form and when to address function: Timing of surgical reconstruction for a patient with 46 XY DSD

Urology Case Reports, 2023
Differences of sexual development (DSD) refers to congenital conditions characterized by discordant appearances of external genitalia with respect to sex chromosomes.
Oscar Li, Andrew Gabrielson, Ming-Hsien Wang   +2 more
doaj   +1 more source

Understanding sexual health concerns among adolescents and young adults with differences of sex development: a qualitative study

International Journal of Qualitative Studies on Health & Well-Being, 2023
Purpose Differences of sex development (DSD) are congenital conditions that involve variations in individuals’ sex chromosomes, genes, external and/or internal genitalia, hormones, and/or secondary sex characteristics.
Line Merete Mediå, Solrun Sigurdardottir, Lena Fauske, Anne Waehre   +3 more
doaj   +1 more source

Testicular differentiation in 46,XX DSD: an overview of genetic causes

Frontiers in Endocrinology
In mammals, the development of male or female gonads from fetal bipotential gonads depends on intricate genetic networks. Changes in dosage or temporal expression of sex-determining genes can lead to differences of gonadal development.
Maria Tereza Martins Ferrari, Elinaelma Suelane do Nascimento Silva, Mirian Yumie Nishi, Rafael Loch Batista, Berenice Bilharinho Mendonca, Berenice Bilharinho Mendonca, Sorahia Domenice   +6 more
doaj   +1 more source

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

Frontiers in Genetics, 2019
Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and/
Christa E. Flück, Laura Audí, Mónica Fernández-Cancio, Kay-Sara Sauter, Idoia Martinez de LaPiscina, Luis Castaño, Isabel Esteva, Núria Camats   +7 more
doaj   +1 more source

‘It was Supposed to be a Secret’: a study of disclosure and stigma as experienced by adults with differences of sex development

Health Psychology and Behavioral Medicine, 2022
Background Differences of sex development (DSD) are a group of congenital conditions that involve variations in sex chromosomes, genes, external and/or internal genitalia, hormones, and secondary sex characteristics. The present study sought to highlight
Line Merete Mediå, Lena Fauske, Solrun Sigurdardottir, Kristin J. Billaud Feragen, Charlotte Heggeli, Anne Wæhre   +5 more
doaj   +1 more source

Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam

Indian Journal of Endocrinology and Metabolism
Introduction: Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD
Praveen Nagarajaiah, Ashok K Bhuyan, Abhamoni Baro, Uma K Saikia   +3 more
doaj   +1 more source

Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States

Frontiers in Endocrinology, 2023
ObjectiveSome individuals with differences of sex development (DSD) conditions undergo medically indicated prophylactic gonadectomy. Gonads of individuals with DSD can contain germ cells and precursors and patients interested in future fertility ...
Aisha L. Siebert, Aisha L. Siebert, Veronica Gomez-Lobo, Emilie K. Johnson, Emilie K. Johnson, Leena Nahata, Kyle E. Orwig, Louise C. Pyle, Selma F. Witchel, Courtney Finlayson, Monica M. Laronda, Monica M. Laronda   +11 more
doaj   +1 more source