Results 1 to 10 of about 359,449 (281)

Disorders of Sex Development: Challenges for the Future [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2012
No abstract available.
Sarafoglou, Kyriakie, Ahmed, S. Faisal
openaire   +4 more sources

Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin

JCRPE, 2021
We describe a 46,XX girl with Denys-Drash syndrome, showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made.
Carla Bizzarri, Germana Antonella Giannone, Jacopo Gervasoni, Sabina Benedetti, Federica Albanese, Luca Dello Strologo, Isabella Guzzo, Mafalda Mucciolo, Francesca Diomedi Camassei, Francesco Emma, Marco Cappa, Ottavia Porzio   +11 more
doaj   +1 more source

Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series

BMC Urology, 2017
Background The aim of this study is to review and present the clinical features and process of evaluation and treatment for OT-DSD in a single center in recent years in China.
Yu Mao, Shaoji Chen, Ru Wang, Xuejun Wang, Daorui Qin, Yunman Tang   +5 more
doaj   +1 more source

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2019
Purpose Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia.
Yoon Myung Kim, Arum Oh, Kun-Suk Kim, Han-Wook Yoo, Jin-Ho Choi   +4 more
doaj   +1 more source

Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys

Frontiers in Endocrinology, 2014
In early fetal development, the testis secretes –independently of pituitary gonadotropins– androgens and anti-Müllerian hormone (AMH) which are essential for male sex differentiation.
Rodolfo eRey
doaj   +1 more source

Barriers in access to healthcare services for individuals with disorders of sex differentiation in Bangladesh: an analysis of regional representative cross-sectional data

BMC Public Health, 2020
Background Worldwide people in disorder of sex development (DSD) faces multiple barriers while seeking their social rights, particularly healthcare services. We aimed to explore the healthcare opportunities available to them, using patterns of healthcare
Alam Khan, T. M. Fahad, Md Imran Nur Manik, Hazrat Ali, Md. Ashiquazzaman, Md Ibrahim Mollah, Tanjeena Zaman, Md Shariful Islam, Moizur Rahman, Aminur Rahman, Mostafizur Rahman, Tarannum Naz, Mahmud Arif Pavel, Md. Nuruzzaman Khan   +13 more
doaj   +1 more source

Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review

BMC Medical Genomics, 2022
Background 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. SRY-negative 46,XX males show overexpression of pro-testis
Jiansheng Wei, Changrong Liu, Minyan Zhang, Shen Liu, Junjie Fu, Peng Lin   +5 more
doaj   +1 more source

Bilateral Cryptorchidism, a rare presentation for persistent Müllerian duct syndrome

Electronic Physician, 2016
Persistent Müllerian duct syndrome (PMDS) is a rare, sex-limited, autosomal recessive disorder representing male pseudo-hermaphroditism. It is observed in males with the presence of female reproductive organs such as the uterus, cervix, and bilateral ...
Abdullah Al-Faris, Abdullah Al-Faris, Mohammed Al-Sayed, Hassan Al-Shehri   +3 more
doaj   +1 more source

Male refractory hypospadias with sexual reversal: a case report

Journal of Medical Case Reports, 2023
Background Hypospadias is one of the most prevalent urogenital malformations in clinic. However, some hypospadias may have a more complex disorder of sex development. Usually, hypospadias in these patients is severe.
Jianfeng Zhao, Gang Chen, Jun Chen, Le Qian   +3 more
doaj   +1 more source

Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development

Balkan Medical Journal, 2018
Background: Ovotesticular disorder is characterized by the presence of testicular and ovarian tissues in the same individual. Single gene mutations in SRY, SOX9, DMRT1 and DAX1 can lead to ovotesticular disorder of sexual development.
Metin Eser, Akif Ayaz
doaj   +1 more source