Results 61 to 70 of about 12,853 (226)
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 +1 more source
Gonadal dysgenesis and tumors: genetic and clinical features [PDF]
, 2005 Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers.
Bianco, Bianca Alves Vieira +2 more
core +3 more sources
Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report
Diagnostic Pathology, 2011 Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian ...
He Anguang +5 more
doaj +1 more source
False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory
Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang +5 more
wiley +1 more source
Indian Journal of Endocrinology and Metabolism, 2013 The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare. We report a 21-year-old phenotypical female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics.
Viral N Shah +5 more
doaj +1 more source
Germ Cell Tumors in Dysgenetic Gonads [PDF]
Clinics, 2019 This review describes the germ cell neoplasms that are malignant and most commonly associated with several types of gonadal dysgenesis. The most common neoplasm is gonadoblastoma, while others including dysgerminomas, yolk-sac tumors and teratomas are ...
Mauri José Piazza +1 more
doaj +1 more source
Histopathology, Volume 88, Issue 1, Page 230-251, January 2026.In this review, we summarise the major recent advances in Testicular Sex Cord‐Stromal Tumours, focusing on molecular alterations and biomarkers relevant for diagnosis, classification and prognosis. Testicular sex cord‐stromal tumours (TSCSTs) represent ~4%–8% of all testicular neoplasms.
João Lobo, Andres M Acosta
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 +7 more
doaj +1 more source
Case Management of Pure Gonadal Dysgenesis 46, XY (Sindrom Swyer) [PDF]
, 2016 Disorders of sex development (DSD) are medical conditions in which the development of chromosomal, gonadal or anatomic sex varies from normal and may be incongruent with each other.
Harzif, A. K. (Achmad) +6 more
core +2 more sources
Case Reports in Medicine, Volume 2026, Issue 1, 2026.Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Süleyman Cemil Oğlak +10 more
wiley +1 more source