Seminoma in a Male Phenotype 46XX True Hermaphrodite

Malik, Vinod; Gupta, Dheeraj; Salvi, Amba Lal; Gill, Meenu

doi:10.1016/s1015-9584(09)60136-6

Cited by 12 publications

(8 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…(). Interestingly, there have been four recent reports of seminoma arising in ovotestes in coincidence with current trends to preserve the testicular component in cases of male sex assignment (Nichter, ; Malavaud et al ., ; Malik et al ., ; Hua et al ., ). The problem is further complicated because in largest series of OT‐DSD the identification of testicular CIS has not even been attempted.…”

Section: Discussionmentioning

confidence: 96%

Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy

et al. 2015

View full text Add to dashboard Cite

SUMMARYAll malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. The adult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed maturation of germ cells and prognostic potential. A large series of 43 patients with Disorders of Sex Development (DSD) and dysgenetic testes (90% ranging from neonates to 12 years, mean age 4.7 years), was studied by quantifying dysgenetic features, degree of germ cell abnormalities/atypia (GCA), expression of OCT 3/4 (a pluripotency-undifferentiation marker), germ cell ploidy and evolution to CIS and invasive TGCT. Findings were compared with those of normal testes. The type of gonads present defined three groups of patients: bilateral testes (BT-DSD, n = 21), one testis and one streak gonad (CT-DSD, C for combined, n = 13), and ovarian-testicular combinations (OT-DSD, n = 9). There were 5 boys with infantile CIS, bilateral in 3 (total of 8 infantile CIS) and two patients with adult CIS, bilateral in one (total of 3 adult CIS). Two patients had bilateral seminomas one at 12-17 and the other at 23 years. Histological dysgenesis was significantly higher in CT-DSD (p < 0.05), that had only 1 CIS. The highest frequency of GCA was in BT-DSD (p < 0.05), which coincided with a total of 11CIS + Seminomas. In all patients, aneuploidy was significantly higher (63%) than diploidy (p < 0.02), and GCA were more frequent in aneuploid than in diploid samples (p < 0.02). All CIS and TGCT were OCT 3/4 positive. Finally, there was a significant association between the triad Aneuploidy + GCA + OCT 3/4 positivity and the incidence of CIS (Fisher Exact test p < 0.002, relative risk 7.0). The degree of testicular dysgenesis (derived from abnormal organization of Sertoli cells in fetal testicular cords) is inversely related to the incidence of CIS. Our data demonstrate that the combined use of OCT 3/4 expression, quantification of germ cell abnormalities-atypia and ploidy in dysgenetic testes can satisfactorily identify infantile CIS with high risk of malignant evolution and set it aside from delayed germ cell maturation with lower or nil neoplastic potential.

show abstract

Section: Discussionmentioning

confidence: 96%

Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Recent evidence indicated that SRY is permissive but not mandatory for male development. [6] Other causes of XX OT-DSD include mutations in NR5A1 , aberrant expression of SOX3 , duplication of SOX9 , and mutations in RSPO1 and WNT4 . [ 12 13 ]…”

Section: Discussionmentioning

confidence: 99%

“…To date, less than ten cases of tumors arising in the gonads of individuals with 46,XX OT-DSD have been reported. [ 5 6 7 8 9 10 ] As shown in Table 1 , all adults were classified as male. Five out of 7 patients presented with seminoma.…”

Section: Discussionmentioning

confidence: 99%

“… [4] Instances of tumors arising in the gonads of individuals with 46,XX OT-DSD are uncommon. [ 5 6 7 8 9 10 ] Herein, we present a case of a a male phenotype 46, XX OT-DSD suffering from seminoma, who was successfully treated with surgery combined with neochemotherapy, chemotherapy, and testosterone replacement. The patient has provided informed consent for this study.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma

Liu²,

Peng³

et al. 2020

Medicine

View full text Add to dashboard Cite

Rationale: Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon. Patient concerns: We report a case of a 36-year-old phenotypical male with a chief complaint of an abdominal mass for 3 months. He reported normal erections and regular menses. Computerized tomography showed a large tumor measuring 15 × 10 cm in size, a uterus, and a cystic ovary. Diagnosis: 46, XX ovotesticular DSD with seminoma. Interventions: The patient was treated with neochemotherapy (etoposide and cisplatin), surgery, chemotherapy, and testosterone replacement. Outcomes: At the 13-month follow-up, the patient reported satisfactory erections, and no evidence of disease was found. Conclusion: Cases of 46,XX ovotesticular DSD with seminoma are uncommon. Our case reveals the importance of surgery combined with neochemotherapy, chemotherapy, and testosterone replacement in these patients to improve the prognosis.

show abstract

“…Although a true hermaphrodite is uncommon, it has been reported in more than 400 individuals [5]. It is generally known that almost all hermaphrodites are infertile, however, German et al [6] observed spermatogenesis in an hermaphrodite.…”

Section: Introductionmentioning

confidence: 99%

A male phenotype (XY) hermaphrodite treated for seminoma, fathered a healthy child by IVF–ICSI technique

Zayed

Ghalayini

Matalka

2008

J Assist Reprod Genet

View full text Add to dashboard Cite

show abstract

Seminoma in a Male Phenotype 46XX True Hermaphrodite

Cited by 12 publications

References 9 publications

Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy

Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy

46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma

A male phenotype (XY) hermaphrodite treated for seminoma, fathered a healthy child by IVF–ICSI technique

Contact Info

Product

Resources

About