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Journal of Pediatric and Adolescent... Dec 2019Swyer syndrome is a rare type of disorder of sex development and typically presents with delayed puberty and primary amenorrhea. We describe an unusual presentation of...
BACKGROUND
Swyer syndrome is a rare type of disorder of sex development and typically presents with delayed puberty and primary amenorrhea. We describe an unusual presentation of this condition.
CASE
A 17-year-old female patient with typical thelarche and adrenarche presented with primary amenorrhea. Pelvic ultrasound showed normally developed uterus and bilateral ovoid hypoechoic structures suggestive of gonads. Laboratory investigations revealed highly elevated gonadotrophins with estradiol level within a range typical for a female of reproductive age and chromosome analysis showed a 46,XY karyotype. Histopathological examination of the gonadectomy specimens revealed gonadoblastoma and dysgerminoma with no functional ovarian or testicular tissue.
SUMMARY AND CONCLUSION
This report reminds us the possibility of diagnosis of Swyer syndrome in the presence of normal pubertal development and normal sex steroid levels considered to be produced by gonadoblastoma.
Topics: Adolescent; Amenorrhea; Diagnosis, Differential; Dysgerminoma; Female; Gonadal Dysgenesis, 46,XY; Gonadoblastoma; Humans; Ovarian Neoplasms
PubMed: 31356871
DOI: 10.1016/j.jpag.2019.07.007 -
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 -
European Journal of Endocrinology Sep 2022Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical.
BACKGROUND
Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical.
OBJECTIVE
The aim of this study is to report the histological characteristics and immunoexpression patterns of gonadal parenchyma in patients with 46,XX testicular and ovotesticular DSD, with a focus on the detection of germ cell malignancies.
DESIGN
Inclusion criteria were SRY-negative 46,XX testicular and ovotesticular DSD with available samples from gonadal biopsy or gonadectomy for the review of histological findings. Gonadal histology was assessed on hematoxylin and eosin-stained sections and immunohistochemical analysis. Histopathological criteria from the last World Health Organization classification of urogenital tumors were used to identify undifferentiated gonadal tissue, gonadoblastoma, and dysgerminoma.
RESULTS
Median age at first histological evaluation of gonadal samples was 1.46 years (range: 0.16-16 years). Totally 15 patients were classified as ovotesticular and only 1 as testicular DSD. Most individuals had bilateral ovotestes (12/15). No histological alterations were found in the ovarian parenchyma, while signs of dysgenesis were seen in all cases of testicular parenchyma. In 4/15 ovotesticular DSD, a prepubertal biopsy failed to identify ovarian parenchyma. We detected early prepubertal preinvasive and invasive malignancies in this cohort (five patients had undifferentiated gonadal tissue, five gonadoblastoma, and one dysgerminoma).
CONCLUSION
46,XX disorders of gonadal development are historically considered at a low risk for germ cell cancer, and the need for assessment of gonadal histology has been questioned. The finding of early germ cell malignancies in our cohort brings awareness and needs further research.
Topics: Disorders of Sex Development; Dysgerminoma; Female; Gonadoblastoma; Humans; Male; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Ovotesticular Disorders of Sex Development
PubMed: 35900314
DOI: 10.1530/EJE-22-0283 -
Journal of Indian Association of... Oct 2014PEDIATRIC GERM CELL TUMORS (GCT) ARE RARE TUMORS: 80% are benign, 20% malignant (2-3% of all malignant pediatric tumors). The gonadal sites (ovary and testis) account... (Review)
Review
UNLABELLED
PEDIATRIC GERM CELL TUMORS (GCT) ARE RARE TUMORS: 80% are benign, 20% malignant (2-3% of all malignant pediatric tumors). The gonadal sites (ovary and testis) account for 40% of cases.
OVARIAN GCTS
Represent 30% of GCTs and 70% of neoplastic ovarian masses, being the most common ovarian neoplasms in children and teenagers. Benign and immature forms (teratomas) constitute about 80% of all ovarian GCTs, malignant forms represent 20% increasing during adolescence. The most common malignant entity in children is the yolk sac tumors (YST); dysgerminoma is frequent during adolescence and being bilateral in 10% of cases. Presentation is similar in malignant and benign lesions; abdominal pain (70-80%) and lower abdominal mass are common symptoms. Evaluation of alpha-fetoprotein (αFP) or beta subunit of human chorionic gonadotropin (βHCG) is essential to address the nature of the tumors: Their elevation means presence of malignancy. Surgery includes intraoperative staging procedures and requires ovariectomy or ovarosalpingectomy for malignant lesions, but may be conservative in selected benign tumors. Since malignant GCTs are very chemosensitive, primary chemotherapy is recommended in metastatic or locally advanced tumors.
TESTICULAR GCT
Represent 10% of pediatric GCT, and about 30% of malignant GCT with two age peaks: Children <3 years may experience mature teratoma and malignant GCTs, represented almost exclusively by YST, while adolescents may also show seminomas or other mixed tumors. The main clinical feature is a painless scrotal mass. Surgery represents the cornerstone of the management of testicular GCTs, with an inguinal approach and a primary high orchidectomy for malignant tumors, while a testis-sparing surgery can be considered for benign lesions. A retroperitoneal lymph node (LN) biopsy may be necessary to define the staging when the involvement of retroperitoneal LN is uncertain at imaging investigations.
CONCLUSION
Patients with gonadal malignant GCTs fare better than those with extragonadal mediastinal germ cell tumors (MGCTs) and survival rate exceeds 90% in localized forms. Chemotherapy has significantly improved the outcome of malignant forms since the introduction of platinum based regimens. The surgical procedure has to be performed in agreement with the ongoing protocols.
PubMed: 25336799
DOI: 10.4103/0971-9261.141995 -
Diagnostics (Basel, Switzerland) Dec 2022Dysgerminoma represents a rare malignant tumor composed of germ cells, originally from the embryonic gonads. Regarding its incidence, we do not have precise data due to... (Review)
Review
Dysgerminoma represents a rare malignant tumor composed of germ cells, originally from the embryonic gonads. Regarding its incidence, we do not have precise data due to its rarity. Dysgerminoma occurs at a fertile age. The preferred treatment is the surgical removal of the tumor succeeded by the preservation of fertility. Even if a multidisciplinary team, founded in 2009 by a gynecologist, an oncologist, a pediatric oncologist and a pediatric surgeon, under the guidance of the Malignant Germ Cell International Consortium (MaGIC), studies this type of tumor, issues still remain related to the lack of a randomized study and to both the management and understanding of the concept of OMGCTs (ovarian malignant germ cell tumors). The aim of this review is to present from the literature the various approaches for this type of tumor, and, regarding innovative therapies or possible prevention, which can be applied in clinical practice. Multidisciplinarity and treatment in reference centers have proven their usefulness as well.
PubMed: 36553112
DOI: 10.3390/diagnostics12123105 -
Gynecologic Oncology Reports Jun 2023While Non-Hodgkin Lymphoma (NHL) often involves the ovaries at time of autopsy, it is rarely present at the time of diagnosis. Here we present a case of a 20-year-old...
While Non-Hodgkin Lymphoma (NHL) often involves the ovaries at time of autopsy, it is rarely present at the time of diagnosis. Here we present a case of a 20-year-old who presented with a large adnexal mass and elevated B-HCG, CA-125, and LDH. The patient underwent exploratory laparotomy, and frozen section of the left ovarian mass was suspected to be a dysgerminoma. Final pathologic diagnosis was Ann Arbor stage IVE Diffuse Large B-Cell Lymphoma, germinal center subtype. Patient is currently undergoing chemotherapy and has received the 3 of a planned 6 cycles of R-CHOP.
PubMed: 37293350
DOI: 10.1016/j.gore.2023.101212 -
Pediatrics International : Official... Jan 2022
Topics: Dysgerminoma; Female; Humans; Neoplasms, Germ Cell and Embryonal; Neoplasms, Second Primary; Ovarian Neoplasms; Teratoma
PubMed: 35851512
DOI: 10.1111/ped.15251 -
Journal of Clinical & Translational... Sep 2014Patients with Turner syndrome (TS) require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes... (Review)
Review
Patients with Turner syndrome (TS) require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1) the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2) which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3) options for assisted reproduction in these patients and associated risks, 4) the increased risk of mortality associated with pregnancy in this population, and 5) how best to assess and monitor cardiovascular risks.
PubMed: 29159084
DOI: 10.1016/j.jcte.2014.05.003 -
Modern Pathology : An Official Journal... Jul 2022Mast cell sarcoma (MCS) is an exceedingly rare form of mastocytosis characterized by invasive malignant mast cell growth and metastatic potential. Diagnosis of MCS is... (Review)
Review
Mast cell sarcoma (MCS) is an exceedingly rare form of mastocytosis characterized by invasive malignant mast cell growth and metastatic potential. Diagnosis of MCS is very challenging due to its marked morphologic variations and significant immunophenotypic overlap with other neoplasms. In this study, we undertook an extensive study of 10 cases of MCS from our series, with review of additional 24 cases from the literature, to better clarify the clinicopathologic and molecular features of MCS. From the analyses of our 10 cases, MCS equally involved males and females with a median age of 54.5 years (range 1-63). The bone was the most common site of involvement, as noted in 9/10 of cases. Two patients had prior germ cell tumors (mediastinal germ cell tumor and ovarian dysgerminoma), and concurrent systemic mastocytosis was noted in one of nine patients. Serum tryptase levels were elevated in 6/7 of patients, and 3/9 of patients had mast cell activation symptoms. Morphologically, the tumor cells were typically large and pleomorphic with frequent reactive eosinophils. By immunohistochemical staining, MCS consistently expressed CD43 (8/8), CD117 (10/10), and mast cell tryptase (10/10), as well as CD13 (3/3) and CD33 (10/10), with variable positivity of CD2 (1/9), CD25 (4/9), CD30 (5/8), and CD68 (5/9). Notably, KIT D816V was not detected in nine cases in our study, although two cases had other mutations of KIT gene. Seven out of eight patients received chemotherapy with or without radiotherapy. However, the response was poor, and four out of eight patients died within a median follow-up interval of five months. Taken together, there are no standardized therapeutic regimens available for MCS at this time, and the prognosis is dismal. Therefore, it is critical to further investigate and characterize this rare entity, with the hope of improving diagnostic accuracy and providing more effective, targeted therapies.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Mast Cells; Mast-Cell Sarcoma; Mastocytosis; Mastocytosis, Systemic; Middle Aged; Proto-Oncogene Proteins c-kit; Young Adult
PubMed: 35105959
DOI: 10.1038/s41379-022-01014-w -
Maedica Dec 2021Patients with Swyer syndrome, "XY gonadal dysgenesis", have fibrosed gonads with a significant risk of developing germ cell tumours. During radiological assessment, a...
Patients with Swyer syndrome, "XY gonadal dysgenesis", have fibrosed gonads with a significant risk of developing germ cell tumours. During radiological assessment, a 17-year-old female with Swyer syndrome showed mildly enlarged gonads that were removed laparoscopically and proved pathologically to be bilateral gonadoblastomas. In addition, the right sided lesion showed overgrowth by dysgerminoma. The patient was further treated with combination chemotherapy and she was in complete remission for three years.
PubMed: 35261680
DOI: 10.26574/maedica.2020.16.4.734