Individuals with 46,XX/XY chimerism can display a wide range of characteristics, varying from hermaphroditism to complete male or female, and can display sex chromosome chimerism in multiple tissues, including the gonads. The gonadal tissues of females contain both granulosa and germ cells. However, the specific sex chromosome composition of the granulosa and germ cells in 46,XX/XY chimeric female is currently unknown. Here, we reported a 30-year-old woman with secondary infertility who displayed a 46,XX/46,XY chimerism in the peripheral blood. FISH testing revealed varying degrees of XX/XY chimerism in multiple tissues of the female patient. Subsequently, the patient underwent preimplantation genetic testing (PGT) treatment, and 26 oocytes were retrieved. From the twenty-four biopsied mature oocytes, a total of 23 first polar bodies (PBs) and 10 second PBs were obtained. These PBs and two immature metaphase I (MI) oocytes only displayed X chromosome signals with no presence of the Y, suggesting that all oocytes in this chimeric female were of XX germ cell origin. On the other hand, granulosa cells obtained from individual follicles exhibited varied proportions of XX/XY cell types, and six follicles possessed 100% XX or XY granulosa cells. A total of 24 oocytes were successfully fertilized, and 12 developed into blastocysts, where 5 being XY and 5 were XX. Two blastocysts were transferred with one originating from an oocyte aspirated from a follicle containing 100% XY granulosa cells. This resulted in a twin pregnancy. Subsequent prenatal diagnosis confirmed normal male and female karyotypes. Ultimately, healthy boy-girl twins were delivered at full term. In summary, this 46,XX/XY chimerism with XX germ cells presented complete female, suggesting that germ cells may exert a significant influence on the sexual determination of an individual, which provide valuable insights into the intricate processes associated with sexual development and reproduction.

Ovarian endometriosis cyst (OEC) is caused by the growth of ectopic endometrium into the ovarian cortex, leading to disrupted ovarian cortical structures and infertility. Large OECs are usually surgically removed, and assisted reproductive technology (ART) is required for future pregnancy. The oocyte reserve and development of patients with small non-surgical OECs are unknown. In this study, we compared mitochondrial abnormality, ATPase and IF1 mRNA expression levels, and OXPHO complex proteins between OEC vs control mural granulosa cells (mGCs).OEC mGCs show fewer mitochondria per cell, a higher proportion of aberrant morphology, lower ATPase mRNA levels, higher IF1 mRNA levels, and impaired expression of 3 of the 5 critical proteins involved in the OXPHOS complex, compared with control mGCs. Cell-free mitochondrial DNA (cfmtDNA) levels are higher in the follicular fluid of patients with OEC and were inversely associated with the expression of mtDNA in mGCs and cumulus granulosa cells (cGCs).Taken together, this study indicates that small non-surgical OECs lead to poor quality of oocytes and subsequent embryos during ART compared with control, which was accompanied by mGC mitochondrial dysfunction. mGC and cGC mtDNA and FF cfmtDNA might serve as efficient biomarkers for the non-invasive prediction of pregnancy outcomes in patients with OEC undergoing ART.

Rare sex cord-stromal tumors of the ovary cannot be further subclassified and are therefore designated \"sex cord-stromal tumor-not otherwise specified.\" These tumors have highly varied morphology, and the literature describing them is limited. Herein, we report the pathology and clinical course of a 46-yr-old woman diagnosed with sex cord-stromal tumor-not otherwise specified. The tumor was composed predominantly of juvenile granulosa cell tumor histology, with elements of thecoma, adult granulosa, Sertoli, as well as poorly differentiated epithelioid and sarcomatoid components. Next-generation sequencing revealed a FOXL2 C134W mutation, seen most commonly in adult granulosa cell tumors, as well as mutations in TP53 (V172F) and TERT promoter (-124C>T). The patient exhibited an aggressive clinical course involving rapid recurrence with distant metastases that responded to 4 cycles of cisplatin, bleomycin, and etoposide.

OBJECTIVE: To report a woman with primary ovarian insufficiency (POI) with reciprocal translocation between chromosomes 5 and 13.
METHODS: Chromosomal analysis (G-banding) of a 39-year-old woman with elevated gonadotropin levels and secondary amenorrhea and review of the literature with a special focus on disrupted genes at the reported breakpoints.
RESULTS: A reciprocal translocation between the long arms of chromosomes 5 and 13 was identified in the patient (46,XX,t(5;13)(q13;q14)). Investigation of the breakpoints revealed that the 13q14.1 region encompasses FOXO1 (forkhead box 1) gene, which has an important role in granulosa cell function and follicle maturation.
CONCLUSIONS: Autosomal translocations are rare in women with POI. We have reported the first case of a de novo reciprocal translocation involving chromosomes 5 and 13 in a POI patient. As one of the breakpoints encompasses the FOXO1 gene, it seems that disruption of this gene can be the cause of POI in this patient. This provides further evidence on the role of autosomal translocations in disrupting POI-associated genes. Therefore, concentrating on the genes at the breakpoints will be helpful to delineate the new biological pathways or genes involved in POI pathogenesis.

An ovarian tumor (gynandroblastoma) in a 16-year old girl is reported. Clinical presentation include abdominal pain, signs of virilization and irregular menstrual cycles. Ultrasound scan examination reveals a cystic mass in a left ovary. The patient underwent a left ovariosalpingectomy. Grossly, a cystic mass (73 x 42 x 36 mm) with smooth outer surface and with many cysts was found in the left ovary. The intraoperative diagnosis was ovarian adenocarcinoma. Postoperative histological examination reveals that the tumor was presented by two patterns- nodules and nests of juvenile granulose cell pattern admixed with Sertoli-Leydig pattern as tubules and cyst and scanty Sertoli cells. On immunohistochemical staining the Granulosa cells were negative for cytokeratin AE1-AE3 and positive for Vimentin. The Sertoli cells were androgen receptor positive. A year after operation the patient had no abdominal pain, the menstrual cycles are regular but the virilization persist. Histogenesis and differential diagnosis are discussed.

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Granulosa cells are components of the sex cord-stromal cells in the ovary responsible for steroidogenesis. Uncommonly, extraovarian granulosa cells have been reported to be associated with malignant processes of the ovary. We report a unique case of benign granulosa cells, found during routine laparoscopic evaluation, in the uterosacral ligaments in a 20-year-old patient with chronic pelvic pain and infertility. Possible mechanisms include implantation of released granulosa cells from a normal ovary or arising from a focus of müllerianosis. Of note, a focus of endosalpingiosis and endometriosis was also identified within the specimen.

The gynandroblastoma is an extremely rare sexual cord stromal tumor, which contains both male and female elements, characterized by Sertoli or Leydig cells and granulose cells. We describe an ovarian gynandroblastoma in a 28 year-old female patient, found accidentally during a cesarean section operation. There is only one reported case in world literature occurring in a pregnant woman. The principal component we found was adult granulose cells, with a microfollicular pattern, and the presence of luteinized cells in some areas; besides we found the presence of well differentiated Sertoli cells elements, in addition to Leydig cells groups, in over 10% of the tumoral surface. Inmunohistochemical stainings were performed: citokeratin, which resulted positive in Sertoli cells and negative in granulose cells; and inhibin, which was positive in both components showing its mixed origin.

FSH-secreting pituitary adenoma (FSHoma) is often associated with increased levels of serum FSH and ovarian hyperstimulation syndrome (OHSS). The OHSS has historically been attributed to elevated FSH production by the FSHoma; however, some FSHoma patients with OHSS have normal serum FSH levels. OHSS may result not from increased FSH levels, but also from increased bioactivity of the FSH derived from the adenoma. To address this, we measured the FSH bioactivity in the serum of a 40-year-old woman with an FSHoma and OHSS, whose FSH levels were normal. Chinese hamster ovary cells stably expressing FSH receptors were prepared and transfected with a cAMP-responsive element-driven luciferase reporter plasmid. Cells were then treated with recombinant human FSH (rhFSH), the patient\'s sera, or sera from controls, collected at different time points, and subjected to a luciferase assay. Luciferase activity was increased in response to rhFSH in a dose-dependent manner. The responsiveness was further augmented by co-addition of a 3-methyl isobutylxanthine, which improved the sensitivity of our assay. Unexpectedly, the serum FSH bioactivity/immunoactivity ratio of the patient was mostly equal to that of normal subjects. This was confirmed with a granulosa cell aromatase assay. This case report suggests that alternate explanations may exist for the OHSS phenotype seen in some FSHoma patients.

The group of incompletely differentiated (unclassified) sex cord/gonadal stromal tumors includes rare cases with predominant spindle cell morphology. We report a rare case of a \"pure\" spindle cell tumor of the testis with morphological and immunohistochemical features consistent with the diagnosis of \"incompletely differentiated sex cord/gonadal stromal tumor\". Given the spindle cell morphology, the differential diagnosis with other benign and malignant spindle cell lesions is discussed. The concurrent presence of some morphological and immunohistochemical features of both Leydig and granulosa cell lines in the tumor suggests its origin from a stromal stem cell, possibly capable of dual differentiation, but with an arrest of maturation at an early phase of differentiation.