Results 71 to 80 of about 169,144,440 (149)

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

BMC Medical Genetics, 2012
Background The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)).
Hersmus Remko, Stoop Hans, Turbitt Erin, Oosterhuis J, Drop Stenvert LS, Sinclair Andrew H, White Stefan J, Looijenga Leendert HJ   +7 more
doaj   +1 more source

Disorders of sex development: developmental challenges and mothers' experiences of support [PDF]

, 2014
An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the family and how well these needs are met.
Chivers, C.
core  

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   +1 more source

Molecular study of developmental sex disorders in children

Egyptian Journal of Medical Human Genetics, 2015
Background: Sex determination and differentiation in humans are processes that involve the interaction of several genes such as SRY, SOX9 genes which are important in the development of the male genital system.
Soheir S. AboElella, Maha A.M. Tawfik, Wafaa moustafa M. Abo El-fotoh   +2 more
doaj   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Mazen, I., Achermann, J.C., Rossi, R., Akkurt, I., Köhler, B., Cetindag, C., Biebermann, H., Grüters, A., Lin, L., Hiort, O.   +9 more
core  

Diagnosis and surgical decision-making of a 46, XX ovotesticular disorders of sex development patient: a case report

Frontiers in Surgery
BackgroundOvotesticular disorder of sex development is a rare form of disorder of sex development that manifests as ovotestis in individuals. The precise diagnosis and the choice of surgical procedures are still in conflict condition due to the rarity of
Hanxing Zhao, Zhixing Chen, Zhixing Chen, Baoyun Wang, Zhenyu Zhang, Zhenyu Zhang, Zhengyong Li, Zhengyong Li   +7 more
doaj   +1 more source

In-depth exploration of differences of sex development: 5-year experience in a tertiary center

Endocrine Connections
Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.
Mohamed Hssaini, Sana Abourazzak, Ihsane El Otmani, Mohamed Ahakoud, Amina Ameli, Laila Bouguenouch, Hicham Bekkari   +6 more
doaj   +1 more source

46,XX testicular disorder of sex development

, 2014
No abstract ...
Ahmed, Faisal, Lucas-Herald, Angela, Tobias, Edward, McGowan, Ruth   +3 more
core  

Clinical Review of 95 Patients with 46,XX Disorders of Sex Development Based on the New Chicago Classification

, 2015
Study Objective The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient ...
Kilic, Birim Gunay
core   +1 more source

SUBMICROSCOPIC DUPLICATION OF 8q24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENT

, 2016
Submicroscopic duplication of 8q24.3 region is a potential candidate for disorders of sex development: Some of the disorders of sex development (DSD), including 46, XX testicular DSD formerly called "XX maleness" and 46, XY DSD with partial or complete ...
Dilek, F. N., Kayserili, H., Saka, N., Ergun, M. A., Percin, E. F.   +4 more
core   +1 more source