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Ginekologia Polska 2022Pure gonadal dysgenesis is a situation when the karyotype is 46, XY, but for various reasons there is a disorder of differentiation of Wolffian and Mullerian structures...
Pure gonadal dysgenesis is a situation when the karyotype is 46, XY, but for various reasons there is a disorder of differentiation of Wolffian and Mullerian structures and in consequence the phenotype is female. It is known that abdominal gonads and the presence of Y chromosome allow to qualify this condition as a high risk of tumor. In most cases breast development is limited because of lack or low level of estrogen. A 27-year-old patient with differences of sexual development (DSD), was admitted to the Department of Endocrinological Gynecology for a control examination. In the history: dysgerminoma, primary amenorrhea and ambiguous karyotype. The patient has not taken hormonal replacement therapy. The breast development is Tanner stage V.
Topics: Dysgerminoma; Female; Gonadal Dysgenesis; Gonadal Dysgenesis, 46,XY; Gonads; Humans; Ovarian Neoplasms
PubMed: 35730347
DOI: 10.5603/GP.a2022.0029 -
Medicine and Pharmacy Reports Jan 2022Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high...
BACKGROUND AND AIM
Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk. The condition usually manifests in teenage and young adults with delayed puberty and primary amenorrhea. The purpose of this study was to investigate the incidence and potential malignant outcomes of complete gonadal dysgenesis in Latvia.
METHODS
37 patients were included in a retrospective study from 1996 to 2016. In fifteen cases, additional patient information was available. Information from medical records was collected on age at the time of diagnosis: anamnesis data, laboratory results, histology of gonads, and treatment.
RESULTS
Complete gonadal dysgenesis with karyotype 46,XY was proven in 36 (97.3%) cases and one (2.7%) case with karyotype 47,XY,+21. The average age of patients at the time of diagnosis was 15.4 ± 8.0 years. The study included 15 cases: eight patients (53.3%) were investigated for primary amenorrhea, and incomplete development of secondary sexual characteristics, 5 patients (33.3%) with abdominal pain and lower abdominal mass, 2 patients (13.3%) were diagnosed at birth. Gonadectomy was performed in 12 cases (80%). The median time between diagnosis and gonadectomy was 0.4 ± 4.3 years. The histopathology results from the gonadal biopsy showed malignancy in 7 cases (58.3%). The most commonly diagnosed tumors were dysgerminoma and gonadoblastoma.
CONCLUSION
Early diagnosis of Swyer syndrome is necessary in view of the risk of malignancy that can develop at a young age. In several cases, the diagnosis of the syndrome was made only after the malignant process development. The study showed the median time between diagnosis and gonadectomy was suboptimal. Therefore, women with amenorrhea and lack of secondary sexual characteristics require careful investigation.
PubMed: 35720238
DOI: 10.15386/mpr-2064 -
Case Reports in Endocrinology 2022Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ...
Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components. The tumor has been reported to almost exclusively develop in various types of gonadal gene mutation syndromes, such as in pure or mixed gonadal dysgenesis and among females carrying Y chromosome material. However, it can be rarely present in normal women with 46, XX karyotype. Ovarian gonadoblastoma presenting with signs of contrasexual puberty in a young female child with normal 46, XX karyotype is an extremely rare clinical entity and seldom reported in the literature. We report a case of a nine-year-old girl child who presented with signs of virilization and contrasexual pubertal development. A detailed clinical evaluation along with supportive biochemical and radiological findings pointed to the presence of a virilizing ovarian tumor. The patient underwent right salpingo-oophorectomy, pelvic node dissection, and infracolic omentectomy. The excised tumor was confirmed to be gonadoblastoma which was overgrown by dysgerminoma on histopathological evaluation. The presence of associated malignant tumors (like dysgerminoma) should always be ruled out in cases of gonadoblastoma.
PubMed: 35656123
DOI: 10.1155/2022/5666957 -
Neurology India 2022The challenges associated with surgeries of cavernous sinus (CS) lesions have shifted the management trend towards upfront gamma knife radiosurgery (GKRS). Although GKRS...
BACKGROUND
The challenges associated with surgeries of cavernous sinus (CS) lesions have shifted the management trend towards upfront gamma knife radiosurgery (GKRS). Although GKRS is effective in arresting the progression of certain small residual/recurrent lesions, its efficacy in alleviating neurological deficits is less evident. Furthermore, GKRS without establishing the histopathological diagnosis, at times can be detrimental.
OBJECTIVE
We present our clinical experience to reemphasize the role of surgery for CS lesions in the current era of upfront GKRS.
MATERIALS AND METHODS
We reviewed our database of 32 patients with various CS lesions treated by surgery for progressive cranial nerve deficits. The follow-up data were analyzed for the extent of resection, and in particular for improvement in their symptoms.
RESULTS
The lesions were confirmed as hemangioma (CSH)-8, meningioma-8, trigeminal schwannoma-6, chordoma-3, residual pituitary with CS extension-3, fungal granuloma-3, and dysgerminoma-1. Symptoms improved in 23 (complete in 13) and remained at least static in six patients. Follow-up ranged from 4-36 months.
CONCLUSIONS
The nature of pathology should determine the management modality in CS lesions. Excision of CS schwannomas and chordomas yields rapid clinical improvement and good long-term outcomes. Resection is preferred for large CSH and functioning pituitary tumors. Although the clinical improvement may be less dramatic, surgery debulks the meningiomas. Most importantly, surgery also establishes the histopathological diagnosis of CS lesions. Even with an easy alternative of upfront GKRS, resection has a definite role in the primary management of most CS pathologies.
Topics: Cavernous Sinus; Chordoma; Cranial Nerve Neoplasms; Follow-Up Studies; Humans; Meningeal Neoplasms; Meningioma; Neurilemmoma; Radiosurgery; Retrospective Studies; Treatment Outcome
PubMed: 35532620
DOI: 10.4103/0028-3886.344638 -
International Cancer Conference Journal Apr 2022Gonadoblastoma is an extremely rare neoplasm of the ovary showing admixture of germ cells and sex cord cells. It may be associated with gonadal dysgenesis....
Gonadoblastoma is an extremely rare neoplasm of the ovary showing admixture of germ cells and sex cord cells. It may be associated with gonadal dysgenesis. Gonadoblastoma cells may give rise to individual germ cell tumours or mixed germ cell tumours with variable tumour components. Very few cases of ovarian gonadoblastoma admixed with malignant germ cell tumours have been recorded worldwide. Because of the rareness of the tumour, a component of gonadoblastoma might be overlooked on microscopic examination. Here we report a rare case of ovarian gonadoblastoma giving rise to an admixture of immature teratoma and dysgerminoma. We discuss microscopic features, immunohistochemistry findings and review of literature.
PubMed: 35402135
DOI: 10.1007/s13691-021-00531-w -
Diagnostics (Basel, Switzerland) Mar 2022Dissecting gonadoblastoma (DGB) of the ovary, a recently described terminology, defines a unique distribution of neoplastic germ cells. Here, we report a case of...
Dissecting gonadoblastoma (DGB) of the ovary, a recently described terminology, defines a unique distribution of neoplastic germ cells. Here, we report a case of incidental DGB coexistent with an atypical endometriotic cyst occurring in a 23-year-old woman. The ovarian cyst was lined by endometrial-like glands and stroma. Some glands displayed nuclear enlargement and hyperchromasia, and abundant eosinophilic cytoplasm with occasional intracytoplasmic hemosiderin and mucin vacuoles. The neoplastic germ cells resembled those of ovarian dysgerminoma and were diffusely distributed within the ovarian stroma, which was stretched around the wall of the endometriotic cyst. These cells were arranged in nests and cords, possessing clear cytoplasm and centrally located round nuclei with prominent nucleoli and occasional mitoses. Chromosomal analysis revealed a 46,XX karyotype. We describe the clinical, histological, immunophenotypical, and genetic features of ovarian DGB incidentally detected in the ovarian cystectomy specimen of a woman with normal female karyotype.
PubMed: 35328213
DOI: 10.3390/diagnostics12030660 -
Zhongguo Yi Xue Ke Xue Yuan Xue Bao.... Feb 2022Objective To investigate the clinical characteristics of preadolescent and adolescent female patients with ovarian mass combined with dysplasia of secondary sexual...
Objective To investigate the clinical characteristics of preadolescent and adolescent female patients with ovarian mass combined with dysplasia of secondary sexual characteristics. Methods This study retrospectively analyzed 18 cases of ovarian mass combined with dysplasia of secondary sexual characteristics aged 0-19 years admitted to Peking Union Medical College Hospital from January 2012 to November 2019.By analyzing the clinical manifestations,surgical methods,postoperative pathology,therapies and prognosis of the cases,we summarized the diagnosis and treatment ideas. Results Among the 18 cases,7(7/18,38.9%)developed secondary sex signs before puberty,including 5 cases showing precocity(including 2 cases of juvenile granulosa cell tumor,1 case of gonadoblastoma,1 case of ovarian follicular cyst,and 1 case of 46,XY simple gonadal dysplasia combined with dysgerminoma)and 2 cases presenting masculine manifestations(1 case of steroid cell tumor and 1 case of sclerosing stromal tumor).The rest 11(11/18,61.1%)cases showed abnormal development of secondary sexual characteristics during puberty,including 8 cases with masculine manifestations or abnormal menstruation after menarche(7 cases with sex cord stromal cell tumor and 1 case with cystic granulosa cell tumor),2 cases with primary amenorrhea(1 case with androgen insensitivity syndrome combined with testicular sertoli cell tumor and 1 case with endometriosis cyst combined with reproductive tract malformation),and 1 case diagnosed as 46,XX gonadal dysplasia with serous cystadenoma and no secondary sexual development during puberty. Conclusions Sex hormone levels should be actively tested in the case of prepubertal secondary sexual characteristics appearing early,pubertal secondary sexual characteristics being abnormal(underdevelopment),and/or menstrual abnormalities.Imaging examination should be performed to exclude ovarian organic lesions,and chromosome karyotype analysis should be performed if necessary.The diagnosis of ovarian mass in preadolescent and adolescent females with related symptoms should first be alerted to cord stromal cell tumor.It is recommended to rule out the possibility of combined reproductive tract malformation in the adolescent patients with primary amenorrhea.Chromosome examination should be conducted to rule out the possibility of gonadal dysplasia in the adolescent patients with primary amenorrhea and/or no development of secondary sexual characteristics.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Hyperplasia; Infant; Infant, Newborn; Ovarian Neoplasms; Retrospective Studies; Young Adult
PubMed: 35300760
DOI: 10.3881/j.issn.1000-503X.14131 -
Gynecologic Oncology Reports Apr 2022The main pediatric (0-18 years) gynecologic cancers include stromal carcinomas (juvenile granulosa cell tumors and Sertoli-Leydig cell tumors), genital...
BACKGROUND
The main pediatric (0-18 years) gynecologic cancers include stromal carcinomas (juvenile granulosa cell tumors and Sertoli-Leydig cell tumors), genital rhabdomyosarcomas and ovarian germ cell. Outcomes depend on time of diagnosis, stage, tumor type and treatment which can have long-term effects on the reproductive career of these patients. This study seeks to analyze the trends in clinical-pathologic presentation, treatment and outcomes in the cases seen at our facility. This is the first paper identifying these cancers published from sub-Saharan Africa.
METHOD
Retrospective review of clinico-pathologic profiles and treatment outcomes of pediatric gynecologic oncology patients managed at MTRH between 2010 and 2020. Data was abstracted from gynecologic oncology database and medical charts.
RESULTS
Records of 40 patients were analyzed. Most, (92.5%, 37/40) of the patients were between 10 and 18 years. Ovarian germ cell tumors were the leading histological diagnosis in 72.5% (29/40) of the patients; with dysgerminomas being the commonest subtype seen in 12 of the 37 patients (32.4%). The patients received platinum-based chemotherapy in 70% of cases (28/40). There were 14 deaths among the 40 patients (35%).
CONCLUSION
Surgery remains the main stay of treatment and fertility-sparing surgery with or without adjuvant platinum-based chemotherapy are the standard of care with excellent prognosis following early detection and treatment initiation. LMICs face several challenges in access to quality care and that affects survival of these patients. Due to its commonality, ovarian germ cell cancers warrant a high index of suspicion amongst primary care providers attending to adnexal masses in this age group.
PubMed: 35300053
DOI: 10.1016/j.gore.2022.100956 -
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 -
Reproduction & Fertility Apr 2021The Ubiquitous Transcribed Y ( a.k.a. ) AZFa candidate gene on the human Y chromosome and its paralog on the X chromosome, (a.k.a. ), encode a histone lysine...
UNLABELLED
The Ubiquitous Transcribed Y ( a.k.a. ) AZFa candidate gene on the human Y chromosome and its paralog on the X chromosome, (a.k.a. ), encode a histone lysine demethylase removing chromatin H3K27 methylation marks at genes transcriptional start sites for activation. Both proteins harbour the conserved Jumonji C (JmjC) domain, functional in chromatin metabolism, and an extended N-terminal tetratricopeptide repeat (TPR) block involved in specific protein interactions. Specific antisera for human UTY and UTX proteins were developed to distinguish the expression of both proteins in human germ cells by immunohistochemical experiments on appropriate tissue sections. In the male germ line, UTY was expressed in the fraction of A spermatogonia located at the basal membrane, probably including spermatogonia stem cells. UTX expression was more spread in all spermatogonia and in early spermatids. In female germ line, UTX expression was found in the primordial germ cells of the ovary. UTY was also expressed during fetal male germ cell development, whereas UTX expression was visible only at distinct gestation weeks. Based on these results and the conserved neighboured location of and in Yq11 found in mammals of distinct lineages, we conclude that such as is part of the Azoospermia factor a (AZFa) locus functioning in human spermatogonia to support the balance of their proliferation-differentiation rate before meiosis. Comparable UTY and DDX3Y expression was also found in gonadoblastoma and dysgerminoma cells found in germ cell nests of the dysgenetic gonads of individuals with disorders of sexual development and a Y chromosome in karyotype (DSD-XY). This confirms that AZFa overlaps with GBY the Gonadoblastoma susceptibility Y locus, and includes the gene.
LAY SUMMARY
AZFa Y genes are involved in human male germ cells development and support gonadoblastoma (germ cell tumour precursor cells) in the aberrant germ cells of the gonads of females with genetic disorders of sexual development. The AZFa gene on the male Y chromosome is equivalent to on the female X chromosome. These genes are involved in removing gene regulators to enable activation of other genes (i.e. removal of histone methylation known as epigenetic modifications). We wanted to learn the function of UTY and UTX in developing sperm and eggs in human tissues and developed specific antibodies to detect both proteins made by these genes. Both UTY and UTX proteins were detected in adult and fetal sperm precursor cells (spermatogonia). UTX was detected in egg precursor cells (primordial germ cells). UTY was detected in gonadoblastoma and dysgerminoma tumour cells (germ cell tumours originating from genetic disorders of sexual development due to having a Y chromosome). Based on our study, we conclude that UTY is not only part of AZFa, but also of GBY the overlapping gonadoblastoma susceptibility Y region.
Topics: Adult; Animals; Chromatin; Chromosomes, Human, Y; DEAD-box RNA Helicases; Dysgerminoma; Female; Gonadoblastoma; Histone Demethylases; Humans; Male; Mammals; Minor Histocompatibility Antigens; Neoplasms, Germ Cell and Embryonal; Nuclear Proteins; Ovarian Neoplasms; Semen; Spermatogonia
PubMed: 35128450
DOI: 10.1530/RAF-20-0049