Results 21 to 30 of about 2,838 (167)

Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality

BMC Public Health, 2009
Background The German Network of Disorders of Sex Development (DSD)/Intersexuality carried out a large scale clinical evaluation study on quality of life, gender identity, treatment satisfaction, coping, and problems associated with diagnoses and ...
Jürgensen Martina, Kleinemeier Eva, Kropf Siegfried, Lux Anke, Thyen Ute   +4 more
doaj   +1 more source

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

International Journal of Endocrinology, 2016
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center.
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior   +21 more
doaj   +1 more source

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Nature Communications, 2018
SRY and its target SOX9 are known key determinants in testis development. Here the authors by studying duplications and deletions upstream of SOX9 from patient samples with disorders of sex development (DSD) reveal enhancers for SOX9 critical for human ...
Brittany Croft, Thomas Ohnesorg, Jacqueline Hewitt, Josephine Bowles, Alexander Quinn, Jacqueline Tan, Vincent Corbin, Emanuele Pelosi, Jocelyn van den Bergen, Rajini Sreenivasan, Ingrid Knarston, Gorjana Robevska, Dung Chi Vu, John Hutson, Vincent Harley, Katie Ayers, Peter Koopman, Andrew Sinclair   +17 more
doaj   +1 more source

Genetic Analysis For The Diagnosis of Disorders of Sexual Development in Indonesia

Journal of Biomedicine and Translational Research, 2016
Disorders of sex development (DSD) is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical, while in clinical practice this term means any abnormality of the external genitalia.
Sultana MH Faradz
doaj   +1 more source

Dealing With Uncertainty and Lack of Knowledge in Diverse Sex Development: Controversies on Early Surgery and Questions of Consent

Sexual Medicine, 2020
Introduction: Diverse sex development (dsd) is an umbrella term for different congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex characteristics.
Ute Lampalzer, PhD, Peer Briken, MD, Katinka Schweizer, PhD   +2 more
doaj   +1 more source

Transverse testicular ectopia with disorders of sex development

Indian Journal of Urology, 2012
Transverse testicular ectopia (TTE) is a rare congenital anomaly. Although TTE often coexists with abnormalities such as inguinal hernia and persistent Mullerian duct syndrome, disorders of sex development (DSD) in combination with TTE is extremely rare.
Katsuya Aoki, Masaomi Kuwada, Kiyohide Fujimoto, Yoshihiko Hirao   +3 more
doaj   +1 more source

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

Life, 2023
The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS).
Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V. de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scallet   +9 more
doaj   +1 more source

Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study [PDF]

Journal of Sex & Marital Therapy, 2019
For various reasons, sexuality of individuals with differences/disorders of sex development (DSD) may be affected. The aim of the study was to describe sexual activity, satisfaction with sex life, satisfaction with genital function, and sexual problems in people with different DSD conditions. Data were collected from 1,040 participants in Europe.
Kreukels, Baudewijntje P. C., Cohen-Kettenis, Peggy T., Roehle, Robert, van de Grift, Tim C., Slowikowska-Hilczer, Jolanta, Claahsen-van der Grinten, Hedi, Lindén Hirschberg, Angelica, de Vries, Annelou L. C., Reisch, Nicole, Bouvattier, Claire, Nordenström, Anna, Thyen, Ute, Köhler, Birgit, de Vries, Annelou, Arlt, Wiebke, Wiesemann, Claudia, de la Perriere, Aude Brac, Sultan, Charles, Paris, Francoise, Richter-Unruh, Annette, Pienkowski, Catherine, Szarras-Czapnik, Maria   +21 more
openaire   +3 more sources

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

Gender Development in 46,XY DSD: Influences of Chromosomes, Hormones, and Interactions with Parents and Healthcare Professionals

Scientifica, 2012
Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD,
Amy B. Wisniewski
doaj   +1 more source