-
Annals of Medicine and Surgery (2012) Mar 2023Ovarian tumor is a rare condition in pediatrics. Due to the improvement in surgical techniques and chemotherapy in recent years, it is currently possible to preserve...
UNLABELLED
Ovarian tumor is a rare condition in pediatrics. Due to the improvement in surgical techniques and chemotherapy in recent years, it is currently possible to preserve fertility in selected cases of patients who desire motherhood.
CASE PRESENTATION
We present a case of pregnancy following conservative surgery and complete chemotherapy for ovarian dysgerminoma stage IIA. A 16-year-old female presented with complaints of abdominal mass and discomfort. Histopathological examination displayed dysgerminoma arising from the right ovary. Conservative treatment with right salpingo-oophorectomy and six cycles of chemotherapy was performed. Within 2 years following the surgery, the patient conceived and did not indicate tumor recurrence.
CLINICAL DISCUSSION
Dysgerminoma is the most common ovarian malignant germ cell tumor and usually affects women at a young age. Conservative surgery followed by chemotherapy is the treatment of choice, particularly in young patients with a strong desire to have a family. Conservative fertility-sparing surgery does not have inferior outcomes in terms of survival or recurrence. It is possible that in certain cases, patients previously treated for ovarian cancer may retain their fertility, thereby improving their quality of life.
CONCLUSION
Most patients with dysgerminoma can be treated with the maintenance of normal reproductive function. Reassurance regarding the high probability of conceiving and having normal children after conservative surgery and chemotherapy should be informed to the patient and family.
PubMed: 36923762
DOI: 10.1097/MS9.0000000000000146 -
International Medical Case Reports... 2023We report a case of dysgerminoma in a 22-year-old woman diagnosed with chromosomal abnormality, balanced translocation 46X,t(X:1)(q22;q21). She had received hormone...
We report a case of dysgerminoma in a 22-year-old woman diagnosed with chromosomal abnormality, balanced translocation 46X,t(X:1)(q22;q21). She had received hormone replacement therapy for 7 years for primary amenorrhea. She visited a primary care physician because of lower abdominal distension, and a large tumor in the pelvis was discovered. She was admitted to our hospital for further examination of the pelvic tumor. She underwent laparotomy and was diagnosed with stage IIIA1 dysgerminoma (pT3apN0pM0) of the left ovary. Young female patients without the Y chromosome who are treated for primary amenorrhea may also develop malignant germ cell tumors; therefore, gynecologists should provide hormone replacement therapy and periodic pelvic evaluation.
PubMed: 36915667
DOI: 10.2147/IMCRJ.S395511 -
Journal of Obstetrics and Gynaecology... Feb 2023
PubMed: 36879939
DOI: 10.1007/s13224-022-01689-w -
Archives of Clinical and Medical Case... 2023Dysgerminoma is a rare malignant germ cell tumor of the ovary that often affects women in reproductive age. The presurgical differentiation of dysgerminoma from benign...
Dysgerminoma is a rare malignant germ cell tumor of the ovary that often affects women in reproductive age. The presurgical differentiation of dysgerminoma from benign conditions is challenging. In early stages, malignant dysgerminoma can be treated with fertility sparing surgery. We present a pictorial non-systematic review of literature, discuss diagnostic challenges in ultrasound and radiological imaging and present laparoscopic treatment options in a young woman with dysgerminoma.
PubMed: 36873804
DOI: 10.26502/acmcr.96550573 -
Case Reports in Obstetrics and... 2023Persistent elevation in beta-human chorionic gonadotropin (-hCG) following a pregnancy is concerning for gestational trophoblastic neoplasia (GTN). However, the...
BACKGROUND
Persistent elevation in beta-human chorionic gonadotropin (-hCG) following a pregnancy is concerning for gestational trophoblastic neoplasia (GTN). However, the differential diagnosis should remain broad during the evaluation process.
CASE
A 34-year-old G3P3 presented with elevated -hCG four months after cesarean delivery with bilateral tubal ligation. The patient was treated with methotrexate for a presumed new ectopic pregnancy. Due to persistent -hCG elevation, she received actinomycin-D for GTN treatment. After completing chemotherapy, her -hCG increased. The patient underwent a laparoscopic hysterectomy with unplanned left oophorectomy due to its nodular appearance at the time of surgery. Pathology confirmed a dysgerminoma of the ovary and benign uterus.
CONCLUSION
Although dysgerminomas are uncommon, they should be considered when -hCG levels remain elevated despite therapies for more common pathologies.
PubMed: 36817070
DOI: 10.1155/2023/1901858 -
International Journal of Environmental... Jan 2023Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most...
Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most important problems in patients with DSD is the risk of gonadal tumors. We present a case of a 26-year-old patient with Swyer syndrome. The patient had primary amenorrhea and no puberty characteristics. In ultrasound imaging in the vicinity of the uterus, there were two homogeneous structures. A genetic diagnosis was also performed, which showed karyotype 46, XY. The patient underwent a bilateral gonadectomy. Histopathological examination revealed the presence of dysgerminoma in both dysgenetic gonads. The follow-up of five years now did not show any changes suspected of invasion. We concluded that the primary amenorrhea, along with the absence of development of sexual characteristics, should prompt an expanded diagnosis for disorders of sex development. Gonadal dysgerminoma should be suspected even in the absence of tumor features on ultrasound and blood laboratory tests. Early prophylactic gonadectomy could protect patients from developing tumors in dysgenetic gonads.
Topics: Humans; Female; Dysgerminoma; Ovarian Neoplasms; Amenorrhea; Contraceptive Agents; Delayed Diagnosis; Sexual Maturation; Gonadal Dysgenesis, 46,XY
PubMed: 36767504
DOI: 10.3390/ijerph20032139 -
JNMA; Journal of the Nepal Medical... Nov 2022Dysgerminoma is the most common malignant germ cell tumour of the ovary. Abdominal pain, abdominal distention, and the presence of a palpable mass are common symptoms at...
UNLABELLED
Dysgerminoma is the most common malignant germ cell tumour of the ovary. Abdominal pain, abdominal distention, and the presence of a palpable mass are common symptoms at presentation. This is usually detected in youth, before the age of 20 years. Ovarian or adnexal tumours are very rare in patients below the age of 18 years, most of them being functional cysts, only 10% being malignant. Here is a rare case of an 8 years old girl with dysgerminoma who underwent right-sided salpingo-oophorectomy for unilateral involvement with conservation of fertility and now the patient is on chemotherapy as the tumour metastasized to the pre-aortic lymph node.
KEYWORDS
case reports; dysgerminoma; metastasis; paediatrics.
Topics: Child; Female; Humans; Abdominal Pain; Dysgerminoma; Lymph Nodes; Ovarian Neoplasms
PubMed: 36705173
DOI: 10.31729/jnma.7894 -
BMC Pregnancy and Childbirth Jan 2023Approximately 10-15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY...
BACKGROUND
Approximately 10-15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY DSD caused by a novel missense mutation in the HMG region of SRY rapidly progressing to germ cell tumors (GCTs).
CASE PRESENTATION
An adolescent female (15 years old) exhibiting primary amenorrhea was later diagnosed as a 46,XY female with bilateral gonadal dysplasia on the basis of peripheral lymphocyte karyotype 46,XY and a novel missense mutation in SRY (c.281 T > G, p.L94R). The novel missense mutation (c.281 T > G, p.L94R) and its adjacent region were conserved. Protein structure analysis showed that the mutant site was located in the middle of the HMG domain, and the mutant protein had a diminished ability to bind to DNA. Imaging examination revealed an adolescent female with a naive uterus. Laparoscopy and initial pathological examination revealed left gonadal dysplasia and right gonadal dysplasia with gonadoblastoma (GB). Right gonadectomy by laparoscopy was performed upon consent from the patient's parents. Less than 1 year postoperatively, the left gonadal gland deteriorated as observed by the findings of a mass in the left adnexal region by pelvic MRI and serum AFP > 1000 ng/ml by serological tests, and then total hysterectomy and adnexal and left gonadectomy by laparoscopy were performed. The GCT stage was classified as stage Ic according to FIGO. At this time, pathologic examination showed that the left gonad had progressed to yolk sac tumor and dysgerminoma. The patient underwent chemotherapy post-operatively but developed type III myelosuppression and tumor recurrence several months later.
CONCLUSIONS
The patient initially presented with right gonadoblastoma but chose only right gonadectomy by laparoscopy to preserve the female sex characteristics, which resulted in rapid deterioration of the left gonad and poor treatment outcomes. This case demonstrates the importance of early genetic diagnosis and treatment of 46,XY female DSD.
Topics: Adolescent; Female; Humans; Dysgerminoma; Endodermal Sinus Tumor; Gonadoblastoma; Gonads; Mutation, Missense; Neoplasm Recurrence, Local; Ovarian Neoplasms; Sex-Determining Region Y Protein
PubMed: 36694125
DOI: 10.1186/s12884-022-05317-3 -
Gynecologic Oncology Mar 2023We previously developed preoperative and pre-chemotherapy modified versions of the male International Germ Cell Cancer Collaborative Group (IGCCCG) prognostic model and...
OBJECTIVE
We previously developed preoperative and pre-chemotherapy modified versions of the male International Germ Cell Cancer Collaborative Group (IGCCCG) prognostic model and assessed it in female patients with germ cell tumors (GCTs). We sought to validate these modified IGCCCG (mIGCCCG) models in a new cohort.
METHODS
We queried institutional databases for female patients with GCTs treated at Memorial Sloan Kettering Cancer Center from 1/1/1990-6/1/2020. The mIGCCCG model classifies patients with non-dysgerminomas as good, intermediate, or poor risk based on tumor markers using male IGCCCG cutoffs and absence/presence of non-pulmonary/peritoneal visceral metastasis. In dysgerminomas, good- and intermediate-risk groups are defined by absence/presence of non-pulmonary/peritoneal visceral metastasis. Progression-free survival (PFS) and overall survival (OS) were estimated for each group in the validation and combined original and validation cohorts. Associations between individual clinical factors and outcomes were evaluated.
RESULTS
Among 183 female patients with GCTs, clinical characteristics and outcomes were similar between the original (n = 93) and validation (n = 90) cohorts. In multivariable models, higher stage, older age, and non-dysgerminoma histology predicted worse PFS and OS (p < 0.05). Among 162 patients who received chemotherapy, preoperative and pre-chemotherapy mIGCCCG models were significantly associated with PFS and OS (p < 0.001 for all groups). With the preoperative model, 3-year PFS rates were 94%, 76%, and 50% in the good-, intermediate-, and poor-risk patients, respectively; OS rates were 96%, 86%, and 52%, respectively. Even within stage groups, mIGCCCG risk classifications were associated with clinical outcomes.
CONCLUSIONS
A female-specific mIGCCCG risk model effectively stratifies patients and should be incorporated into clinical trials.
Topics: Humans; Male; Female; Prognosis; Neoplasms, Germ Cell and Embryonal; Progression-Free Survival; Biomarkers, Tumor; Dysgerminoma; Ovarian Neoplasms; Retrospective Studies; Antineoplastic Combined Chemotherapy Protocols
PubMed: 36669327
DOI: 10.1016/j.ygyno.2022.12.022 -
Frontiers in Endocrinology 202217α-hydroxylase/17,20-lyase deficiency (17-OHD), caused by mutations in the gene of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1), is a rare type of... (Review)
Review
17α-hydroxylase/17,20-lyase deficiency (17-OHD), caused by mutations in the gene of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1), is a rare type of congenital adrenal hyperplasia (CAH), usually characterized by cortisol and sex steroid deficiency combined with excessive mineralocorticoid. Gonadoblastoma is a relatively rare ovarian tumor that is frequently seen among patients with 46,XY gonadal dysgenesis. Rarely have they been reported in female patients with normal 46,XX karyotype. Here, we report an interesting case of an 11-year-old Chinese girl who presented acute abdominal pain that was later attributed to tumor rupture of right ovarian gonadoblastoma with dysgerminoma. Further evaluations revealed hypertension and hypokalemia. Hormonal findings showed increased progesterone, hypergonadotropic hypogonadism, and low cortisol levels. Her chromosome karyotype was 46,XX without Y chromosome material detected. Genetic analysis revealed that the patient had a homozygous pathogenic variant c.985_987delTACinsAA (p.Y329Kfs*90) in exon 6 of the gene and that her parents were all heterozygous carriers of this pathogenic variant. Due to the variable clinical manifestations of 17-OHD, meticulous assessment including genetic analysis is necessary. Further study is warranted to unravel the mechanism of gonadoblastoma in a patient with normal karyotypes.
Topics: Humans; Female; Child; Dysgerminoma; Mixed Function Oxygenases; Gonadoblastoma; Hydrocortisone; Ovarian Neoplasms; Karyotype; Lyases
PubMed: 36589847
DOI: 10.3389/fendo.2022.989695