Results 1 to 10 of about 12,853 (226)

Germ Cell Tumors in 46, XY Gonadal Dysgenesis [PDF]

Indian Journal of Endocrinology and Metabolism
Introduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital.
Raiz A Misgar, Sajad U Islam Mir, Mohmad H Mir, Mir I. Bashir, Arshad I. Wani, Shariq R. Masoodi   +5 more
doaj   +2 more sources

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis [PDF]

International Journal of Endocrinology, 2012
A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed.
Michela Barbaro, Jackie Cook, Kristina Lagerstedt-Robinson, Anna Wedell   +3 more
doaj   +2 more sources

Single-Center Experience in Patients with Mixed Gonadal Dysgenesis [PDF]

Turkish Archives of Pediatrics
Objective: Mixed gonadal dysgenesis (MGD) is an uncommon chromosomal Disorder of Sexual Development (DSD). There is insufficient information regarding clinical findings and growth patterns. This study aimed to provide more information about mixed gonadal
Ebru Barsal Çetiner, Zeynep Donbaloğlu, Berna Singin, Bilge Aydın Behram, Kürşat Çetin, Güngör Karagüzel, Hale Tuhan, Mesut Parlak   +7 more
doaj   +2 more sources

45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review [PDF]

Frontiers in Pediatrics
Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone.
Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui   +8 more
doaj   +2 more sources

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. [PDF]

PLoS ONE, 2012
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in ...
Remko Hersmus, Yvonne G van der Zwan, Hans Stoop, Pascal Bernard, Rajini Sreenivasan, J Wolter Oosterhuis, Hennie T Brüggenwirth, Suzan de Boer, Stefan White, Katja P Wolffenbuttel, Marielle Alders, Kenneth McElreavy, Stenvert L S Drop, Vincent R Harley, Leendert H J Looijenga   +14 more
doaj   +4 more sources

Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel <i>NR5A1</i> Variants. [PDF]

JCEM Case Rep
Gialouris JV, Cheong PL, Zekanovic S, Wang M, Wijewardene A.   +4 more
europepmc   +3 more sources

#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype

Fertility & Reproduction, 2023
Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa, Uki Retno Budihastuti, Eriana Melinawati   +2 more
doaj   +2 more sources

Anti-Ma2 encephalitis in a phenotypic female with XY gonadal dysgenesis: A case report. [PDF]

Epilepsy Behav Rep, 2023
Alsuwaidi S, Kamalboor H, Khairi T, Almadani A.   +3 more
europepmc   +2 more sources

Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome.

Sex Dev, 2023
Yang H, Ma X, Tian H, Yuan J, Wu D, Dong G, Liu Q, Fu J.   +7 more
europepmc   +2 more sources

Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing. [PDF]

Front Endocrinol (Lausanne)
Zhang N, You S, Guo J, Chang X, Qiu J, Hua K.   +5 more
europepmc   +2 more sources