Results 21 to 30 of about 9,016 (186)

Disorders of sex development: a study of 194 cases

Endocrine Connections, 2018
Objective: To study the clinical profile and the management of patients with disorders of sex development (DSD). Design and setting: Retrospective study from a tertiary care hospital of North India.
R Walia, M Singla, K Vaiphei, S Kumar, A Bhansali   +4 more
doaj   +2 more sources

46,XX Disorders of Sex Development: A Case with p.Arg92Trp Variant in NR5A1

Journal of Pediatric Genetics
Ovotesticular (OT) disorders of sex development (DSDs) are marked by the simultaneous presence of ovarian and testicular tissues within the gonads. The appearance of external genitalia does not necessarily correlate with gonadal histology.
BİDECİ, AYSUN, AKIN, AGAH, KAYHAN, GÜLSÜM, ÇAMURDAN, MAHMUT ORHUN, OKTAY, MEHMET ALİ, Kocaman, Gizem Esme, DÖĞER, ESRA   +6 more
core   +2 more sources

Sex dimorphism of weight and length at birth: evidence based on disorders of sex development

Annals of Human Biology, 2022
Background Males have higher weight and length at birth than females. Aim To verify the influence of the Y chromosome and the action of intrauterine androgens on weight and length at birth of children with Disorders of Sex Development (DSD). Subjects and
D.S.R. Amais, T.E.R. da Silva, B.A. Barros, J.G.R. de Andrade, S.H.V. de Lemos-Marini, M.P. de Mello, A.P. Marques-de-Faria, T.N. Mazzola, M.S. Guaragna, H. Fabbri-Scallet, T.A.P. Vieira, N.L. Viguetti-Campos, A.M. Morcillo, O. Hiort, A.T. Maciel-Guerra, G. Guerra-Junior   +15 more
doaj   +2 more sources

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

Journal of Biomedicine and Translational Research, 2017
Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper ...
Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Sultana MH Faradz   +2 more
doaj   +3 more sources

Identification of a novel variant in MYRF gene in a patient with 46, XX disorders of sex development

Gynecological Endocrinology
Objective To expand the clinical phenotype associated with MYRF mutations in disorders of sex development (DSDs).Methods We present a case of a 17-year-old patient with a female phenotype who presented with primary amenorrhea.Results The patient’s ...
Leilei Ding, Qinjie Tian
doaj   +3 more sources

Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development [PDF]

Systems Biology in Reproductive Medicine, 2012
The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD.
Gunes, S., Asci, R., Okten G., Atac F., Onat O.E., Ogur G., Aydin O., Ozcelik, T., Bagci H.   +8 more
openaire   +5 more sources

Possible misdiagnosis of 46,XX testicular disorders of sex development in infertile males [PDF]

International Journal of Medical Sciences, 2020
Objectives: The 46,XX disorders of sex development (DSD) is a rare genetic cause of male infertility and possible misdiagnosis of this condition has never been reported. We aim to investigate clinical characteristics and laboratory results of infertile males with possibly misdiagnosed 46,XX DSD.
Chen, Tong, Tian, Linlin, Wang, Xianlong, Fan, Demin, Ma, Gang, Tang, Rong, Xuan, Xujun   +6 more
openaire   +2 more sources

THU185 Molecular Etiologic Spectrum Of Patients With 46,XY And 46,XX Disorders Of Sex Development [PDF]

J Endocr Soc, 2023
Abstract Disclosure: J. Kim: None. S. Park: None. S. Hwang: None. J. Yoon: None. G. Kim: None. H. Yoo: None. J. Choi: None. Background: Disorders of sexual development (DSDs) is a group of congenital conditions associated with discordant development of chromosomal, gonadal, and anatomical sex.
Kim, Ja Hye, Park, Soyoung, Hwang, Soojin, Yoon, Ji-Hee, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho   +6 more
europepmc   +2 more sources

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings

Frontiers in Endocrinology, 2022
BackgroundThe clinical profile and genetics of individuals with Disorders/Differences of Sex Development (DSD) has not been reported in Ukraine.Materials and MethodsWe established the Ukrainian DSD Register and identified 682 DSD patients.
Evgenia Globa, Natalia Zelinska, Yulia Shcherbak, Joelle Bignon-Topalovic, Anu Bashamboo, Ken MсElreavey   +5 more
doaj   +1 more source

Disorders of sex development: challenges for the future [PDF]

, 2012
No abstract ...
Sarafoglou, Kyriakie, Ahmed, S. Faisal
core   +1 more source