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Thirteen primary and metastatic testicular germ cell tumours, including classical and anaplastic seminomas, and non-seminomatous testicular tumours were examined for their intermediate filament protein (IFP) types. The seminomas were shown to react with a monoclonal and a polyclonal antibody to bovine lens vimentin, while non-seminomatous germ cell tumours were strongly positive for a polyclonal and a monoclonal antibody to cytokeratin. In one case of seminoma with elevated serum levels of beta HCG and alpha FP, cytokeratin positive tumour cells were found. In the case of teratocarcinoma, several components of the tumour could be distinguished using a combination of antisera in double-label immunofluorescence microscopy. The glandular component of this tumour was positive with the polyclonal antikeratin, but also with the monoclonal cytokeratin antibody specific for glandular epithelia (RGE 53). However, the squamous component was negative with this latter antibody. Strikingly, the spindle cell component showed focal positivity for vimentin, with coexpression of cytokeratin and vimentin in some cells. Our data show that antibodies to cytokeratin and vimentin can be helpful in the diagnosis of testicular germ cell tumours, especially in the differentiation between seminomas and non-seminomatous tumours.

Dysgerminoma is one of the two most common types of ovarian germ cell tumors. Providing accurate pathologic diagnosis and treatment planning, the prognosis is good even in advanced stages. Pathologic diagnosis is generally straightforward. In microscopic examination, the usual known growth patterns in tumor cells are solid, trabecular, insular and rarely pseudoglandular. In this paper, we reported an advanced ovarian dysgerminoma with different microscopic patterns of growth, including pseudopapillary and macrofollicular structures, in an 18-year-old woman. The patient underwent staging laparotomy and is currently receiving chemotherapy. [ABSTRACT FROM AUTHOR]

Background: Dysgerminomas constitute around 1–2% of all germ cell tumours. It is very very rare to have dysgerminoma with concurrent pregnancy with an incidence of 0.2–1 per 100,000 pregnancies. It is extremely difficult to conceive with no assisted reproductive interventions and carry it till completion with no complications in a concurrent dysgerminoma. Dysgerminoma has a characteristic specific histomorphology and is easy to diagnose. However, occasionally, syncytiotrophoblastic differentiation can be seen in dysgerminoma although it is a rare histopathological finding. Also, the raised serum B-HCG levels due to the syncytiotrophoblast giant cells seen can lead to a diagnostic dilemma. Clinical presentation: Here we report a case of a 27-year-old 8-week pregnant female who came to the hospital with chief complaints of left-sided abdominal pain and a lump abdomen. Clinical and radiological examination revealed a left ovarian tumour of malignant aetiology with the presence of right ectopic pregnancy. A staging laparotomy with left salpingoophorectomy was performed and sent for histopathological examination. It was reported as dysgerminoma with syncytiotrophoblastic giant cells. The right fallopian tube showed products of conception. Finally, she was planned for adjuvant chemotherapy and serial B-HCG levels. Summary: This case is reported not only just for its rare histopathological finding but also for the diagnostic dilemma it causes both to the surgeon as well as the pathologist. There are various factors which can act as prognosticators such as early suspicion of a tumor, radiological findings, surgery, histopathological examination, and oncology team. [ABSTRACT FROM AUTHOR]

Germ cell tumors encompass a broad spectrum of neoplasms arising from germ cell lineage, demonstrating varying histological profiles and clinical presentations. These tumors encompass a range of benign and malignant entities. While global trends provide insights into their prevalence, specific regional variations, such as those within North-Western India, remain less explored. This study seeks to bridge this knowledge gap by examining the prevalence and characteristics of germ cell tumors within a tertiary cancer hospital. In this retrospective analysis, all cases of germ cell tumors diagnosed over a 3-year period in the specified tertiary cancer hospital were included. Cases with incomplete records or inadequate pathological data were excluded. Data encompassing histological subtypes, patient age distribution, clinical presentations, and histopathological features were collected and analyzed. The study comprised 145 cases of germ cell tumors. Teratomas were the most prevalent subtype, with mature teratomas accounting for the majority. The highest incidence occurred within the 21–30-year age group with a mean age of 24.77 years. Abdominal mass (56%) and abdominal pain (34%) were the prominent clinical presentations. Benign cases constituted the majority 85.5%. Solid tumors (p < 0.00001) and tumors more than 10 cm (p.029028) were found to have a high propensity to be malignant, which was proven to be statistically significant. This study comprehensively explains germ cell tumors' prevalence, clinical features, and histopathological subtypes in a tertiary cancer hospital in North-Western India. The predominance of teratomas, particularly mature ones, aligns with global trends. The age distribution and clinical presentations reflect common patterns. The diverse histopathological appearances underscore the heterogeneous nature of germ cell tumors. This study offers valuable insights for clinical management and further regional research. [ABSTRACT FROM AUTHOR]

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 rare but can occur. The purpose of this review is to evaluate the incidences of these abnormalities and the circumstances surrounding these specific tumors. According to well-established methods, a PubMed systematic review was performed, to obtain relevant studies published in English and select those with the highest-quality data. Initially, the first search was performed using gonadal dysgenesis as the search term, resulting in 12,887 PubMed papers, published, from 1945 to 2017. A second search using ovarian germ cell tumors as the search term resulted in 10,473 papers, published from 1960 to 2017. Another search was performed in Medline, using germ cell neoplasia as the search term, and this search resulted in 7,560 papers that were published between 2003 to 2016, with 245 new papers assessing gonadoblastomas. The higher incidence of germ cell tumors in gonadal dysgenesis is associated with a chromosomal anomaly that leads to the absence of germ cells in these gonads and, consequently, a higher incidence of neoplasms when these tumors are located inside the abdomen. Several hypotheses suggest that increased incidence of germ cell tumors involves all or part of the Y chromosome or different genes.

Here we present the case of a 30-year-old man diagnosed with a dysgerminoma with mediastinal involvement, who developed an isolated chylopericardium during treatment. The purpose of this paper is to review the etiology, diagnosis and new approaches to the treatment of chylopericardium.

The purpose of the present paper is to present a rare case of dysgerminoma of the ovary with hypercalcemia showing elevation of multiple serum tumor markers including parathyroid hormone-related protein (PTH-rP). An 18-year-old unmarried woman, with ovarian dysgerminoma showing hypercalcemia and elevated serum PTH-rP, received six courses of a combination chemotherapy consisting of bleomycin, etoposide and cisplatin after her first surgery, and had no evidence of recurrence approximately 30 months after completing the chemotherapy.

Ovarian germ cell tumors are reviewed with emphasis on recent developments. In the primitive germ cell tumor group the recently recognized subtypes of yolk sac tumor, the hepatoid and glandular variants are described. Hepatoid tumors, which resemble hepatocellular carcinomas, are usually admixed with other patterns of yolk sac neoplasia but when the hepatoid component predominates, distinction from metastatic hepatocellular carcinoma may be difficult. Glandular yolk sac tumors include those with a cribriform pattern as well as tumors that may be confused with endometrioid carcinoma. Within the teratoma category, a recent paper exploring the occasional relation between immature teratomas and dermoid cysts is reviewed. Problems caused by some of the monodermal teratomas are also highlighted. Struma ovarii may be the source of many diagnostic problems. It may be cystic and microscopic examination may reveal inconspicuous numbers of clearly recognizable thyroid follicles, resulting in confusion with other cystic ovarian tumors. In noncystic strumas many patterns, such as solid or pseudotubular, may be seen and the presence of cells with abundant clear or eosinophilic cytoplasm may add to the diagnostic difficulty, particularly if other teratomatous elements are lacking. Immunohistochemical staining for thyroglobulin may be crucial in establishing the diagnosis of a struma in these situations. The problem of identifying reliable criteria for malignancy of struma ovarii is explored on the basis of recent information. The two most recently recognized subtypes of carcinoid tumor, strumal and mucinous, are reviewed as are primary neuroectodermal and sebaceous tumors of the ovary. Unusual clinical features of germ cell tumors are discussed under three main categories: endocrine syndromes, paraendocrine and paraneoplastic syndromes, and miscellaneous. Included in these categories are disorders such as sexual precocity in association with germ cell tumors containing syncytiotrophoblast cells, endocrine abnormalities associated with the recently described functioning ovarian tumors with peripheral steroid cell proliferation, hyperthyroidism with struma ovarii, the carcinoid syndrome, autoimmune hemolytic anemia associated with dermoid cysts, complications of dermoid cyst rupture, which may simulate disseminated carcinomatosis, and ascites and Meigs' syndrome associated with struma ovarii.

From 1979 to 1990, 33 patients with pathologically confirmed malignant ovarian germ cell tumors (MOGCT) were referred after initial surgical procedure at the Department of Oncology, Hospital de la Santa Creu i Sant Pau. The median age was 22 years (range, 10 to 39). Stage distribution was as follows: stage I, 12 patients; stage II, 6 patients; stage III, 11 patients; stage IV, 3 patients; and unstaged, 1 patient. The histologic diagnoses were 10 dysgerminomas, 4 endodermal sinus tumors, 11 immature teratomas, and 8 mixed germ cell tumors. Twenty-eight out of the thirty-three patients received postoperative chemotherapy with POMB-ACE-PAV or other platinum-containing regimens. One patient with stage IV disease failed to respond to chemotherapy and she died. Sixteen out of the twenty-eight treated patients had second-look laparotomy, which showed mature teratoma in six and persistent malignant teratoma in one patient. This last patient had complete remission with second regimen. No patient has developed recurrence. With a median follow-up of 66 months (range, 10 to 133), 32 patients (97%) are alive without evidence of disease. These data confirm that platinum-containing regimens have dramatically improved the prognosis for patients with MOGCT. This paper discusses primary chemotherapy and the role of the second-look in these patients.

Patients with the prune belly syndrome have cryptorchidism as a constant feature of the constellation of anomalies. Testes that do not spontaneously descend represent a well-known risk factor for the development of testicular cancer. In this paper, we present the second case of a primary testicular germ cell tumor in a long-term survivor with prune belly syndrome.

Three new cell lines (NE, ME, LRD) were cloned from mouse-embryo-derived teratocarcinomas and characterized on the basis of developmental, ultrastructural, and cytochemical criteria as nullipotent embryonal carcinoma (EC), pure parietal yolk sac (PYS) carcinoma and mixed parieto-visceral yolk sac carcinoma respectively. Cell lines NE and ME were composed of a monomorphous cell population; however, the morphology of ME was growth-medium-dependent. LRD was composed of a heterogeneous cell population and formed embryoid bodies. NE secreted soluble laminin, osteonectin, entactin and fibronectin but did not form visible pericellular matrix. ME formed pericellular matrix which was composed of laminin and entactin, but did not contain fibronectin. The LRD cells formed pericellular matrix which was composed of laminin, entactin and fibronectin. Whereas laminin from ME and LRD reacted with polyclonal antibodies and a monoclonal antibody to parietal yolk sac laminin, the laminin from NE cells was unreactive with the monoclonal antibody. Osteonectin was found in the supernatant of LRD and ME, but could not be demonstrated immunohistochemically in the extracellular matrix. We conclude that some extracellular matrix components, such as laminin and fibronectin, are produced not only by yolk sac carcinoma cells but by nullipotent EC as well, although the latter do not assemble them into extracellular matrix. Laminin produced by EC is immunochemically different from laminin secreted by yolk sac carcinoma. The extracellular matrix produced by mixed parieto-visceral yolk sac carcinoma is different from the matrix laid down by the pure PYS in that the latter does not contain fibronectin. The lack of osteonectin in the extracellular matrix of yolk sac carcinoma cells indicates that not all polypeptides secreted by these cell lines are incorporated into the extracellular matrix. The new cell lines described in this paper differ with regard to their capacity to form extracellular matrix and secrete its various components. Hence they could be used for further studies of basement membrane assembly in vitro.

A series of controversies in the management of testicular seminoma were raised in this paper. Some of these issues have been discussed in more detail while others such as the optimal dose of radiation in stage II disease, and the management of residual masses post-chemotherapy are discussed in the consensus statement generated from the conference. It is important to consider these controversies in the context of the excellent outcome of current therapy. It is extremely unusual in the management of neoplastic disease to be attempting to refine therapy when the expected cure rate is 97% as it is in seminoma. It is only when our understanding of the disease process is so good, and our treatments so effective, that we can afford to direct investigative effort to minimizing the morbidity of our therapies.

Ovarian malignant germ cell tumors (OMGCTs) represent a rare type of malignant tumors composed of primitive germ cells that often originate from dysgenetic gonads and are frequently associated with hermaphroditism. Such tumors occur more frequently in adolescents or young adults, and their etiopathogenic mechanism is not well established. We report the case of a 20-year-old female with ovarian dysgenesis and female phenotype. A laparoscopic surgery was performed, and ovotestis was discovered. To achieve a histopathological examination, right oophorectomy was performed, which confirmed the diagnosis of dysgerminoma. In the case of hermaphroditism, mixed germ cell tumors can develop, leading to a more aggressive evolution with bilateral malignancy of the gonads, which requires the removal of both ovotestis. The patient was recalled. A histopathological examination revealed a seminoma, so laparoscopic left oophorectomy was performed. The management of this type of diagnosis primarily involves surgery, minimally invasive interventions being preferred. Not all pathologic conditions are readily identifiable by means of exploratory laparoscopy, as in our patient's case. We consider that the optimal solution for these patients would be the preservation of fertility via egg donation and embryo transfer; the survival rate of such patients being 97–100%, if the tumor is diagnosed at an early age. [ABSTRACT FROM AUTHOR]

The evolution of treatment for malignant ovarian germ cell tumors has been one of the most successful in the history of gynecologic oncology, with dysgerminoma as the most common type of malignant ovarian germ cell tumors. Since the introduction of platinumbased chemotherapy in the 1980s, 5-year survival rates for early-stage dysgerminomas have been close to 100%, and as high as 98% for advanced stages. Despite this remarkable achievement, many questions remain in routine treatment. By performing a literature review, we aim to highlight both the current treatment of malignant dysgerminoma and unanswered questions in the modern management of this disease. These issues relate firstly to surgical therapy, such as the role of routine omentectomy and lymphadenectomy, the value of complete surgical resection, and the possibility of fertility-sparing surgery. Second, chemotherapy and the question of the possibility of de-escalation in early stages and the potential of neoadjuvant chemotherapy in advanced stages will be addressed. Finally, a brief overview of the current developments of new drug treatment regimens will be given. [ABSTRACT FROM AUTHOR]

Systemic administration of most chemotherapeutic agents has been assumed to be ineffective in the treatment of primary and metastatic brain tumors because these agents fail to cross the intact blood-brain barrier. However, agents which fail to penetrate the intact blood-brain barrier may penetrate it under conditions which include the presence of tumor in the central nervous system (CNS) and prior CNS irradiation. This paper reports the results of pharmacokinetic studies of bleomycin, cisplatin, and vinblastine in the CNS of a patient with a primary germ cell tumor of the brain who had received prior radiotherapy. Significant concentrations of bleomycin and cisplatin, but not of vinblastine, were reached in the cerebrospinal fluid (CSF) of the patient following iv administration. The area under the bleomycin CSF concentration times time curve was 25% of the area under the bleomycin plasma concentration times time curve. The areas under two cisplatin CSF curves were 50% and 155% of the areas under the corresponding free cisplatin plasma curves. Moreover, an objective response of the tumor to the chemotherapy was documented. This study provides evidence that, under certain circumstances, significant concentrations of cisplatin and bleomycin may be obtained in human CSF following systemic administration and that it may be possible to treat primary or metastatic CNS tumors with agents effective against systemic tumor of the same histologic type.

In the department of Obstetrics and Gynecology of Kurume University, I, 355 cases of ovarian neoplasma were treated from 1960 to 1979, and of these cases 336 belonged to the semimalignant group and the most malignant group of the Japanese Ovarian Committee (J.O.C.). These groups are substantially grouped together into the category of malignant tumor by J.O.C., but their 5-year survival rates are considerably different, i.e., 67.6% for the semimalignant group and 30.8% for the most malignant group. Particularly, since tumors of the semimalignant group often occur in young women who must retain their generative functions, they must be treated differentially from the group of adenocarcinoma which appears frequently in rather aged patients. The present paper describes the clinical management of dysgerminoma, the incidence of which is high in the semimalignant group, and common epithelial carcinoma, the incidence of which is high in the most malignant group.

The role of cryptorchidism in testicular carcinogenesis has been of concern for many physicians for quite a long time. The probability of a malignant neoplasm developing in an undescended testicle is about 20 to 48 times greater than a normally descended testicle. In a review of 74 patients treated with a diagnosis of testicular seminoma at the Department of Radiation Oncology, University of Louisville, Louisville, Kentucky, from 1959 to 1978, six cases were identified with a history of cryptorchidism. A detailed review of these patients along with literature review is done in this paper. The different etiologic factors for tumorigenesis in this group of patients is also discussed. The importance of periodic follow-up of these patients is also stressed in this paper.

This paper describes six patients with testicular tumours in whom computed tomography (CT) scanning at presentation (one case) or relapse (five cases) showed metastases to sites on the psoas muscle at, or below, the level of the aortic bifurcation. Evidence for the existence of retroperitoneal lymph nodes low on the psoas muscles is presented and the importance of recognising this as a possible site of metastasis from testicular tumours is discussed.

The cytological features of testicular germ cell tumours were established in smears from 15 freshly resected tumours. These features were applied to the fine needle aspiration cytology diagnosis of metastases in 27 patients referred for chemotherapy. There were 16 positive reports in 32 aspirates of which 13 were taken before chemotherapy and three in patients with residual or new masses after chemotherapy. Teratomas and typical seminomas showed certain characteristic morphological features in cytological preparations which when present in fine needle aspiration cytology material enabled tumour types to be diagnosed. Spermatocytic and anaplastic seminoma were not represented in this series. It is unlikely that these could be distinguished from malignant teratoma undifferentiated (MTU) in the fine needle aspiration cytology material. Metastases from carcinomatous areas in MTU and malignant teratoma intermediate (MTI) may not be distinguishable in fine needle aspiration cytology material from metastatic adenocarcinoma or undifferentiated carcinoma from a different primary site. Positive cytological findings are of value to the oncologist in the management of patients with metastases from testicular germ cell tumours; negative cytology does not exclude the presence of viable tumour. The sampling of small foci of viable tumour in large necrotic masses persisting after chemotherapy is a problem for radiologists, cytologists, and histopathologists. This paper does not advocate the use of fine needle aspiration cytology for the diagnosis of primary testicular tumour.

Thirty of 83 patients with metastatic germ cell tumours undergoing cytotoxic chemotherapy have required post-treatment surgicopathological staging and in ten of these, viable malignancy was detected. In 8, cystic mature teratoma was excised. Though this surgery can be extremely difficult and in 12 of the 30 cases necrotic tissue only was excised, the toxicity and distress of continuing unnecessary chemotherapy for the patients with necrotic tissue or mature teratoma, and the chance to cure patients with persistent malignant disease with second-line chemotherapy, mean that the early use of this surgery will continue to be an extremely important element in the management of patients with malignant teratoma. However, for patients with metastatic pure seminoma, given the difficulty of removing residual necrotic tissue because of dense fibrous tissue and the exquisite sensitivity to single agent cisplatinum therapy demonstrated in this paper, it is preferable to delay surgery until post-treatment regression has ceased.

There are two purposes to this paper. Firstly to describe the temporal pattern of germ-cell testicular cancers in Scotland, both as a single entity and as the histological sub-types (pure) seminoma and teratoma. Incidence rates rose by over 50% between 1959 and 1984, with the rates of seminoma increasing only marginally and the majority of the overall increase accounted for by the substantial increase observed among the sub-type teratoma. Secondly, to investigate the impact of new therapies on the mortality rate from germ-cell testicular cancer in Scotland in the light of improvements in survival rate reported during the last 25 years from clinical trials and clinical series. Noticeable changes have occurred in the temporal pattern of mortality which cannot be explained by changes in incidence. The ever-widening gap between the increasing incidence rate and the declining mortality rate, particularly apparent in the high-risk age group 15-44, indicates an improving prognosis for patients with this malignancy in Scotland.

This paper describes two nontwin brothers with a nonseminoma tumor of a testicle: an embryonal carcinoma in one and an embryonal carcinoma with seminomatous components in the other. Testicular tumors of the same type have the same frequency in twin brothers as in nontwin brothers. For the present, there is no insight into the genetic influence in the pathogenesis of testicular tumors.

Testicular tumors are the second most common neoplasm in young adult males. Improved techniques of staging, surgery, radiation therapy and chemotherapy have markedly improved the survival of these patients during the past twenty years. However, the treatment of non-seminomatous germ cell tumors remains controversial. This paper reviews the current literature and suggests that methods of performing controlled clinical trials must be found if we are to learn the best methods of treating these patients.

Dysgerminomas of the ovary are rare germ cell tumors. They are more common at puberty. Surgery followed by irradiation has resulted in excellent cure rates in early stages of this disease. This paper is a review of six patients with a diagnosis of dysgerminoma who were treated at the Department of Radiation Oncology, University of Louisville. The controversy on the use of irradiation in Stage Ia tumor is discussed in detail. A review of the literature is also done in this paper.

ysgerminoma is one of the two most common types of ovarian germ cell tumors. Providing accurate pathologic diagnosis and treatment planning, the prognosis is good even in advanced stages. Pathologic diagnosis is generally straightforward. In microscopic examination, the usual known growth patterns in tumor cells are solid, trabecular, insular and rarely pseudoglandular. In this paper, we reported an advanced ovarian dysgerminoma with different microscopic patterns of growth, including pseudopapillary and macrofollicular structures, in an 18-year-old woman. The patient underwent staging laparotomy and is currently receiving chemotherapy.

The classification of ovarian germ cell tumours has remained unchanged for many years, while there have been considerable changes in the testicular classification. In recent years there has been concern about the overtreatment of clinical stage 1 testicular germ cell tumours with increasing use of surveillance for low‐risk disease. We outline here the current classification of germ cell tumours of the ovary with particular regard to treatment and outcome and highlight some areas which may cause confusion, particularly pertaining to immature teratomas and mixed germ cell tumours. We suggest that some minor changes to the classification, evidenced by a recent retrospective series by some of the authors, may lead to less adjuvant chemotherapy for immature teratomas and may obviate the need for the grading of immature teratomas, by aligning with testicular experience in pure post‐pubertal teratomas. Adoption of this will require retrospective and prospective re‐evaluation, but may avoid long‐term patient morbidity. [ABSTRACT FROM AUTHOR]

Background: Swyer syndrome is a rare manifestation of disorders of sex development in which the individual is 46, XY in genotype but phenotypically a female. They have normal female external genitalia with under developed female internal genitalia. They usually present with primary amenorrhoea and delayed puberty but also can present with gonadal tumors in adult life. Case presentation: A 25-year-old Sri Lankan phenotypically female having 46 XY karyotype with a history of primary amenorrhoea, presented with left loin pain associated with fever. General examination revealed a tall stature, scanty axillary and pubic hair, small breasts and clitoromegally. A tender ill-defined mass was detected in the left hypochondrial region. She had high erythrocyte sedimentation rate with elevated alkaline phosphatase and lactate dehydrogenase levels. Her serum hormonal assay revealed a low estradiol level with elevated luteinizing hormone and follicular stimulating hormone levels with normal progesterone and testosterone levels. Computerized tomography of abdomen showed a large complex mass lesion in relation to antero-medial aspect of the lower pole of the left kidney with para-aortic and left common iliac lymph nodes. The diagnostic laparoscopy confirmed the presence of internal female genitalia and the mass lesion was seen in left para-aortic region. The histology revealed a germ cell tumor compatible with a dysgerminoma. Conclusion: Patients with Swyer syndrome can present with gonadal tumors, typically a dysgerminoma in their adult life. [ABSTRACT FROM AUTHOR]

Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males to slightly undervirilized males, ambiguous phenotype, and normal phenotypic females. It presents specific challenges in diagnostic work-up and management. In XY gonadal dysgenesis, the presence of a Y chromosome or Y-chromosome material renders the patient at increased risk for developing gonadal malignancy. No universally accepted guidelines exist for identifying the risk of developing a malignancy or for determining either the timing or necessity of performing a gonadectomy in patients with XY gonadal dysgenesis. Our goal was to evaluate the literature and develop evidence-based medicine guidelines with respect to the diagnostic work-up and management of patients with XY gonadal dysgenesis. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and to provide recommendations for the diagnostic work-up, malignancy risk stratification, timing or necessity of gonadectomy, role of gonadal biopsy, and ethical considerations for performing a gonadectomy. Individualized health care is needed for patients with XY gonadal dysgenesis, and the decisions regarding gonadectomy should be tailored to each patient based on the underlying diagnosis and risk of malignancy. Our recommendations, based on the evidence available, add an important component to the diagnostic and management armament of physicians who treat patients with these conditions. [ABSTRACT FROM AUTHOR]

Unlabelled: Introduction: We report that the coincidence of ovarian tumor and pregnancy poses significant challenges that are more pronounced if the pregnancy is ectopic.Case Presentation: Here, we report a rare and interesting case of a 24-year-old nulliparous Spanish woman who experienced the coincidental occurrence of left tubal pregnancy and dysgerminoma in the right ovary. The corpus luteum settled in the right ovary. A right adnexectomy and left linear salpingostomy were performed. Remarkably, our patient became pregnant spontaneously after surgery. The pregnancy occurred prior to starting chemotherapy, and the intra-uterine pregnancy was carried to term; later, she also had another normal pregnancy. Our patient has done well without chemotherapy.Conclusions: Our report on the challenges of diagnosis and treatment faced in this case can help clinicians better understand and manage these pathologies. We have not found any similar cases in the literature. [ABSTRACT FROM AUTHOR]

Objective To establish the spectrum of presentation, natural history and gynaecological outcomes in women with Swyer syndrome. Design Retrospective notes review. Setting Tertiary referral centre for disorders of sex development. Population A total of 29 adult women with Swyer syndrome. Methods Information was collected on age at diagnosis, biometric characteristics, timing of gonadectomy, histology of gonad, bone mineral density, uterine size and fertility. Main outcome measures Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterine size. Results With regard to presentation, 26/29 (90%) women in this series presented with delayed puberty, and the median age at diagnosis was 17.2 years (range 0–55 years). The median age at gonadectomy was 18 years (range 9–33 years). Histology of the gonad was available in 22 women and demonstrated streak gonads with no evidence of malignancy in 12, dysgerminoma in 7 and gonadoblastoma in 3. The youngest patient diagnosed with dysgerminoma was 10 years old. The median height of the women was 1.73 m (range 1.54–1.95 m). Twelve out of the 20 (60%) women had evidence of osteopenia on dual energy X-ray absorptiometry scan. The uterine size and shape was assessed in eight women after completion of induction of puberty, and the uterine cross-section was found to be significantly lower than that in normal controls. Fertility was achieved with ovum donation in three women, all of whom had live births and one subsequently had a second successful pregnancy. Conclusion Early diagnosis of Swyer syndrome is necessary in view of the risk of dysgerminoma that can develop at an early age. Adequate hormone replacement is required to maintain bone mineral density and may improve the uterine size and shape. [ABSTRACT FROM AUTHOR]

Malignant germ cell tumours of the ovary, though classically known for ‘young age’ and ‘early stage’ at presentation, are not uncommonly identified at advanced stages. Little is available in literature on the role of neo-adjuvant chemotherapy (NACT) in this group of tumours. Two patients with advanced stage ovarian germ cell tumours, including one with 45XO/46XY chromosomal mosaicism, were treated at our Institute with neo-adjuvant chemotherapy with Bleomycin, Etoposide and Cisplatin followed by surgery. Besides marked clinical improvement, intraoperatively both the patients presented no difficulty otherwise expected with widespread tumours, and histopathology report revealed no evidence of viable tumour. The article discusses the experience and suggested course of management of these tumours with NACT, which could be offered to patients with advanced malignancy in whom high surgical morbidity is anticipated or in whom only an operative biopsy was performed at laparatomy. Behaviour and management guidelines of dysgenetic gonads with XY mosaicism have also been discussed. [ABSTRACT FROM AUTHOR]

Dysgerminomas comprise approximately 2–5% of all ovarian malignancies and mostly affect young adolescent women. Primary comprehensive surgery and adjuvant chemotherapy consisting of bleomycin, etoposide, and cisplatin (BEP) are the current recommended treatment options, the latter reserved for advanced stages (FIGO II–IV). We report two patients aged 20 and 26 years who presented with an initial FIGO stage IA, but inadequately assessed. Both were subsequently diagnosed with recurrent malignant dysgerminoma and para-aortic lymph node metastasis. Neither had received comprehensive staging at initial surgery nor adjuvant radio or chemotherapy. Both needed extensive surgery and multiagent chemotherapy for survival and belong to the small percentage of FIGO IA dysgerminoma patients showing a relapse. Comprehensive initial surgery including systematic para-aortic lymphadenectomy and adjuvant chemotherapy at tertiary referral centers is needed to minimize the treatment burden. [ABSTRACT FROM AUTHOR]