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 PediatricsMixed 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 +8 more
doaj +4 more sources
Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches [PDF]
Clinical EndocrinologyABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri +2 more
exaly +3 more sources
Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature [PDF]
Acta Medica Lituanica, 2022 Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder
Ignas Trainavičius +4 more
doaj +2 more sources
Urology Annals, 2021 A 22-year-old known case of 45XO/46XY mixed gonadal dysgenesis, reared as a male, presented with complaints of suprapubic and left iliac fossa pain for the past 1 month.
Samson Ravirajendran +4 more
doaj +2 more sources
Single-Center Experience in Patients with Mixed Gonadal Dysgenesis [PDF]
Turkish Archives of PediatricsObjective: 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 +7 more
doaj +2 more sources
Hemoptysis: A rare presentation of mixed gonadal dysgenesis
Journal of Human Reproductive Sciences, 2020 The objective of the study was to present a case report on a phenotypic male mixed gonadal dysgenesis (MGD) who presented with hemoptysis due to secondary lung metastasis from dysgerminoma.
Darvin V Das +3 more
doaj +2 more sources
Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy) [PDF]
Balkan Journal of Medical Genetics, 2023 Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal trisomy 13, 18, and 21 and often for sex chromosomal aneuploidies (SCAs). Although the testing is also used for sex chromosomal aneuploidies, it is not as efficient as it is for ...
Cobanogullari H., Akcan N., Ergoren M.C.
doaj +2 more sources
Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis [PDF]
Archives of Endocrinology and Metabolism, 2018 SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis.
Sarah Crestian Cunha +7 more
doaj +2 more sources
Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases [PDF]
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 +7 more
doaj +2 more sources
Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report [PDF]
Journal of Medical Case Reports, 2021 Background Mixed gonadal dysgenesis (MGD) is a subtype of the disorders of sex development (DSD) associated with sex chromosome abnormalities characterized by abnormal external genitalia, short stature, and primary amenorrhea.
Yoshiko Kurose +6 more
doaj +2 more sources