The term DSD (Disorders of Sex development) is issued to define those conditions in whom disharmony exists between chromosomal, hormonal and anatomical sex. Parental and patient mental health and quality of life are adversely affected by these conditions. Moreover, individuals with an underlying DSD, especially those with specific Y chromosomal material in their karyotype have an increased risk for developing a germ cell tumor. Here, we present a unique case of 46XY DSD with bilateral dysgerminomas presenting with abdominal mass at the age of 24 years, who was treated with one cycle of chemotherapy comprising of Carboplatin and Etoposide, following which he developed tumor lysis syndrome and later underwent exploratory laparotomy.
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http://dx.doi.org/10.1016/j.gore.2020.100693 | DOI Listing |
BMC Vet Res
December 2024
Clinical Unit for Diagnostic Imaging, University of Veterinary Medicine, Vienna, Austria.
Background: Malignant dysgerminomas are infrequently reported ovarian neoplasms in animals, especially in exotic pets (non-traditional companion animals [NTCAs]). In the few published case reports on reptilian species, examples are primarily postmortem without antemortem (clinical) assessment.
Patient Presentation: An adult, 13-year-old, spayed female inland bearded dragon (Pogona vitticeps) presented with lethargy, a right-sided head tilt, unilateral exophthalmos and ventrotemporal strabismus on the right eye.
Medicine (Baltimore)
June 2024
Department of Emergency, The First Affiliated Hospital of Jiamusi University, Jiamusi, Heilongjiang, China.
Background: Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or androgen synthesis.
Methods: We present 2 rare cases of 46, XY DSD, specifically XY pure gonadal dysgenesis and complete androgen insensitivity syndrome.
Sex Dev
January 2024
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
Introduction: The presence of Y-chromosomal material in females with Turner syndrome (TS) is a well-established risk factor for developing gonadoblastoma and malignant transformations thereof. However, these events are rarely seen in TS patients with no Y-chromosomal material. Thus, it is the current understanding that parts of the Y-chromosome are essential for the malignant transformation of gonadoblastoma in the dysgenetic gonad.
View Article and Find Full Text PDFJ Pediatr Hematol Oncol
October 2023
Department of Paediatric Hematology Oncology.
Germ cell tumors (GCTs) are associated with pure gonadal dysgenesis or Swyer syndrome. Swyer syndrome usually presents with primary amenorrhea, streak ovaries, and mixed GCT. However, our patient presented with secondary amenorrhea, normal female external genitalia, and a mixed GCT.
View Article and Find Full Text PDFCureus
April 2023
Department of Clinical Oncology, Hospital Universitário Evangélico Mackenzie, Curitiba, BRA.
The 46,XY disorder of sexual development (DSD) is a rare congenital condition characterized by a 46,XY karyotype associated with complete or disturbed female gonadal development and a non-virilized phenotype. The presence of Y chromosome material in these patients' karyotypes increases the risk of germ cell tumor development. The present study reports a unique case of a 16-year-old phenotypically female patient presenting with primary amenorrhea, who was later diagnosed with 46,XY DSD.
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