Results 81 to 90 of about 50,074,769 (205)

Supplementary Material for: Mutations in STARD8 (DLC3) may cause 46,XY gonadal dysgenesis

Introduction: 46,XY gonadal dysgenesis is a condition that is characterised by undeveloped testes in individuals with a male karyotype. Mutations in many genes that underlie this condition have been identified; however, there are still a considerable ...
Sirokha D. (18093712), Kalynovskyi V. (18093721), Gorodna O. (18093718), Kusz-Zamelczyk K. (4157764), Nef S. (4132795), Rayevsky A. (18093715), Livshits L. (18093733), Samson O. (18093727), Jaruzelska J. (5351462), Zelinska N. (18093724), Kwiatkowska K. (18093730)   +10 more
core   +1 more source

Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation [PDF]

, 2009
Objective. We present our experience in diagnosing, gender assignment, and surgical management of sexual ambiguity in 46,XY mixed gonadal dysgenesis. Material and methods.
Diana Mačianskytė, Rasa Verkauskienė, Francis Jaubert, Gilvydas Verkauskas, Dainius Jančiauskas, Romualdas Preikša   +5 more
core   +2 more sources

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

BMC Endocrine Disorders, 2017
Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler, on behalf of the dsd-LIFE group   +10 more
doaj   +1 more source

Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development

Frontiers in Pediatrics
ObjectiveA firm diagnosis revealing the etiology of disorders/differences of sex development (DSD) is most helpful in guiding clinical management. The aim of this study is to investigate molecular genetic diagnoses and surgical treatment in a cohort of ...
Yuenshan Sammi Wong, Yuenshan Sammi Wong, Ho Ming Luk, Ho Chung Yau, Lap Ming Wong, Sarah Wing Yiu Poon, Joanna Yuet Ling Tung, Yuk Him Tam, Yuk Him Tam   +8 more
doaj   +1 more source

Seedless orchids: Issues in the anorchid adult

Indian Journal of Endocrinology and Metabolism, 2013
Disorders of sexual differentiation (DSD) are among the challenging problems in the field of endocrinology. When presenting late in an adult the therapeutic as well as diagnostic issues may be different and difficult. Bilateral anorchia is rare.
Shaikh Altamash, K. V. S Hari kumar
doaj   +1 more source

A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma

Prenatal Diagnosis, Volume 46, Issue 8, Page 1290-1293, July 2026.
Shiyu Chen, Xi Tan
wiley   +1 more source

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

African Journal of Paediatric Surgery, 2016
Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome.
F F Mouafo Tambo, S Dahoun, C Kamadjou, A S Nwaha Makon, G Fossi, O G Andze, M A Sosso, P Y Mure   +7 more
doaj   +1 more source

46 Xy gonadal disginezis

, 2012
46,XY cinsiyet gelişim bozukluğu(46,XY CGB) 46,XY karyotip ile karakterize hafif yada ağır penoskrotal hipospadias, azalmış sperm üretimi ,disgenetik testisin olduğu ambigus genitalyadan matür uterus ve fallop tüplerinin olduğu geniş bir kliniğe sahiptir.
Akyürek, Nesibe, Eklioğlu, Beray Selver, Atabek, Mehmet Emre, Arı, Yüca Sevil   +3 more
core  

High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis.

, 2008
A higher incidence of Y-chromosome microdeletions was found on gonadal DNA than on peripheral blood lymphocyte DNA and on streak gonads than on dysgenetic testis in 11 patients with 45,X/46,XY gonadal dysgenesis.
Temponi, Ángel, Pineda Del Villar, Lennie, Puerta, Herminia, Álvarez Nava, Francisco, Soto, Marisol   +4 more
core   +1 more source

Etiology and management of primary amenorrhoea: A study of 102 cases at tertiary centre

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To determine the prevalence of etiologic causes of primary amenorrhea in Indian population. Materials and methods: A retrospective study was performed using 102 complete medical records of women with primary amenorrhea who attended the ...
Alka Kriplani, Manu Goyal, Garima Kachhawa, Reeta Mahey, Vidushi Kulshrestha   +4 more
doaj   +1 more source