Results 51 to 60 of about 21,834 (238)

Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature

BMC Women's Health, 2023
Introduction : Ovotestis is a rare cause of sexual ambiguity characterized by the presence in a patient of both testicular and ovarian tissue, leading to the development of both male and female structures.
Koui Bbs, Abouna Ad, Toukilnan Djiwa, Traore B, Kouyate M, Kouame Ke, Aman Na   +6 more
doaj   +1 more source

“Spectrum of 46 XY disorders of sex development”: A Hospital-based Cross-sectional Study

Indian Journal of Endocrinology and Metabolism, 2020
Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating any other immediate or long-term health concerns.To study the clinical and biochemical profile of patients with 46
Samiran Das, Uma K Saikia, Kandarpa K Saikia, Dipti Sarma, Bipul K Choudhury, Ashok K Bhuyan, Abhamoni Baro, Darvin V Das, Sonali Appaiah   +8 more
openaire   +3 more sources

46, XY Disorder of Sex Development

International Journal of Clinical & Medical Imaging, 2015
46, XY disorder of sex development (46, XY DSD) is an anatomoclinical entity due to a failure of testicular determination. At present 20% of disorders are explained by transformation or deletion in one of the five genes: SRY. Abdominal dysgenetic gonads are at increased risk for gonadal tumors (most commonly dysgerminoma) and should be surgically ...
openaire   +1 more source

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development [PDF]

Endocrine Connections, 2018
46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are less well defined, and thus, the precise diagnosis is challenging.
Kolesinska, Zofia, Acierno, James, Ahmed, Syed Faisal, Xu, Cheng, Kapczuk, Karina, Skorczyk-Werner, Anna, Mikos, Hanna, Rojek, Aleksandra, Massouras, Andreas, Krawczyński, Maciej, Pitteloud, Nelly, Niedziela, Marek   +11 more
openaire   +5 more sources

Fear of devaluation : understanding the experience of intersexed women with androgen insensitivity syndrome [PDF]

, 2004
Objectives: We aim to provide an understanding of the psychological sequela of Androgen Insensitivity Syndrome (AIS) in phenotypic females in order to begin to inform psychosocial health care services.
Alderson, J., Balen, A., Madill, A.
core   +1 more source

Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2016
The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (AIS), and gonadal dysgenesis.To estimate incidence, prevalence, age at diagnosis, and clinical presentation at diagnosis in 46,XY ...
Berglund, Agnethe, Johannsen, Trine H, Stochholm, Kirstine, Viuff, Mette H, Fedder, Jens, Main, Katharina M, Gravholt, Claus H   +6 more
openaire   +5 more sources

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]

, 1996
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan, Blethen, Sandra L., Bloise, Walter, Cutler Jr., Gordon B., Davis, Daphne L., Geissler, Wayne M., Griffin, James E., Grumbach, Melvin M., Mendonca, Berenice B., New, Maria I., Russell, David D., Schwarz, Hans P., Wilson, Jean D., Witchel, Selma F., Wu, Ling   +14 more
core   +1 more source

Sex rearing in individuals with 46,XY disorders of sex development prior to diagnosis [PDF]

International Journal of Pediatric Endocrinology, 2013
46,XY Disorders of Sex Development (DSD) has wide variations of clinical manifestations ranging from complete female, genitalia ambiguity, to complete male. Therefore the inviduals with this disorder can be reared as boys or girls. Most of Indonesian DSD cases are facing with budget constraint, because they require series of costly examinations and ...
Marzuki, Nanis S, Suciati, Lita P, Paramayuda, Chrysantine, Kartapradja, Hannie D, Tridaja, Bambang   +4 more
openaire   +1 more source

Respiratory Organ‐on‐a‐Chip for Disease Modeling: From Architecture to Functional Integration

Advanced Healthcare Materials, EarlyView.
Respiratory organ‐on‐a‐chip (ROC) models capture key mechanical and cellular cues of the human respiratory system, enabling quantitative dissection of disease mechanisms. This review links ROC architectures to disease modeling, functional integration, and commercialization, and proposes a decision framework that aligns model complexity with mechanistic
Jinzhuo Hu, Yongjie Tang, Sidi Liu, Tao Xu, Qian Liu   +4 more
wiley   +1 more source

Sexual Quality of Life of Individuals with 46,XY Disorders of Sex Development

The Journal of Sexual Medicine, 2012
ABSTRACTIntroductionThere has recently been a growing acceptance that it is not only heterosexual functioning of surgically adjusted genitalia which should be considered when measuring the treatment outcome of persons with disorders of sex development (DSD) but also their overall sexual quality of life (SexQoL).AimA comprehensive cross-sectional ...
Verena, Schönbucher, Katinka, Schweizer, Lisa, Rustige, Karsten, Schützmann, Franziska, Brunner, Hertha, Richter-Appelt   +5 more
openaire   +2 more sources