Atypical presentation and management dilemma of mixed gonadal dysgenesis

McKnight, Katherine; Bates, G. Wright

doi:10.1016/j.fertnstert.2010.05.058

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…A recent case report described a 15-year-old girl with bilateral gonadoblastomas and unilateral dysgerminoma. 17 One small series included a 5-year-old girl with unilateral dysgerminoma. 11 Another series described a 15-year-old girl with mosaicism on molecular cytogenetic analysis who had unilateral gonadoblastoma, immature teratoma, and endodermal sinus tumor.…”

Section: Discussionmentioning

confidence: 99%

Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism

Dendrinos

Smorgick

Marsh

et al. 2015

Journal of Pediatric and Adolescent Gynecology

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Section: Discussionmentioning

confidence: 99%

Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism

Dendrinos

Smorgick

Marsh

et al. 2015

Journal of Pediatric and Adolescent Gynecology

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“…A pelvic mass along with elevated βHCG was misinterpreted for an ectopic pregnancy but proved to be an ovarian DG with nests of syncytiotrophoblastic cells (28). Other atypical presentations of OGCT include cases mimicking pubertas tarda, where in 1 case a pubertal female with primary amenorrhea, short stature, and a vaginal septum proved to have 45,X/46,XY mixed gonadal dysgenesis with DG arising from gonadoblastoma (GB) (29). Hyperandrogenemia mimicking polycystic ovarian syndrome from androgen-secreting ovarian teratomas is another atypical presentation (30).…”

Section: Introductionmentioning

confidence: 99%

Molecular Characteristics of Malignant Ovarian Germ Cell Tumors and Comparison With Testicular Counterparts: Implications for Pathogenesis

et al. 2013

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This review focuses on the molecular characteristics and development of rare malignant ovarian germ cell tumors (mOGCTs). We provide an overview of the genomic aberrations assessed by ploidy, cytogenetic banding, and comparative genomic hybridization. We summarize and discuss the transcriptome profiles of mRNA and microRNA (miRNA), and biomarkers (DNA methylation, gene mutation, individual protein expression) for each mOGCT histological subtype. Parallels between the origin of mOGCT and their male counterpart testicular GCT (TGCT) are discussed from the perspective of germ cell development, endocrinological influences, and pathogenesis, as is the GCT origin in patients with disorders of sex development. Integrated molecular profiles of the 3 main histological subtypes, dysgerminoma (DG), yolk sac tumor (YST), and immature teratoma (IT), are presented. DGs show genomic aberrations comparable to TGCT. In contrast, the genome profiles of YST and IT are different both from each other and from DG/TGCT. Differences between DG and YST are underlined by their miRNA/mRNA expression patterns, suggesting preferential involvement of the WNT/β-catenin and TGF-β/bone morphogenetic protein signaling pathways among YSTs. Characteristic protein expression patterns are observed in DG, YST and IT. We propose that mOGCT develop through different developmental pathways, including one that is likely shared with TGCT and involves insufficient sexual differentiation of the germ cell niche. The molecular features of the mOGCTs underline their similarity to pluripotent precursor cells (primordial germ cells, PGCs) and other stem cells. This similarity combined with the process of ovary development, explain why mOGCTs present so early in life, and with greater histological complexity, than most somatic solid tumors.

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“…Devido à semelhança do fenótipo genital e gonadal com a DGP, esta condição deve ser considerada como diagnóstico diferencial [48,49,47,50].…”

Section: Disgenesia Gonadal Mistaunclassified