Turner syndrome is a congenital condition affecting 1 in every 2500 female live births. This condition is characterized by complete or partial loss of the X chromosome. They commonly present with normal female external and internal genitalia and may develop hypogonadism and streak ovaries later in life. We describe an unusual presentation of a case of Turner syndrome – a 31-year-old Filipino with male phenotype mosaic Turner syndrome, with 46,X,+mar[46]/45,X[4] chromosome, presenting with ambiguous genitalia and a pelvoabdominal mass. The patient underwent exploratory laparotomy, peritoneal fluid cytology, adhesiolysis, tumor debulking (gonadectomy) appendectomy, omentectomy, identification and inspection of bilateral ureters and bladder, gonioscopy and biopsy of the urogenital cavity (bladder vs. vagina). Histopathology revealed a mixed gonadal tumor, consisting of 70% yolk sac tumor, and 30% dysgerminoma. The patient eventually succumbed to postoperative complications. Postmortem fluorescence-in situ hybridization revealed a 46,X,+mar[46]/45,X,[4].ish der (Y) (DYZ3+), a marker of chromosome Y origin, consistent with a mosaic type Turner syndrome, associated with increased risk for gonadal malignancy.
Dysgerminoma ; mixed germ cell tumor ; mosaicism ; yolk sac tumor

OBJECTIVE: To analyze the dynamic molecular expression characteristics of single cell RNA binding proteins (RBPs) in the development of mouse embryonic hematopoitic stem cells (HSCs), and obtain the functional research target RNA splicing factor--Mbnl1, to clarify the function of Mbnl1 involved in regulating mouse embryonic HSC development. METHODS: Bioinformatics was used to analyze the single-cell transcriptome data of mouse embryos during HSC development, and the single-cell RBP dynamic molecular expression maps in HSC development was obtained. Mbnl1 was obtained by combining differential analysis and literature research screening. The Mbnl1-knockout mouse model was constructed by the CRISPER/Cas9 technology. Aorta-gonad-mesonephros (AGM) and yolk sac (YS) tissue in two genotype embryos of Mbnl1 RESULTS: The in vitro CFU-C experiment of hematopoietic cells preliminarily indicated that there was no significant difference in the number of cell colonies in AGM region and YS transformed by the two genotypes of Mbnl1 CONCLUSION Through functional experiments in vivo and in vitro, it has been confirmed that knockout of the RNA splicing factor--Mbnl1 does not affect the development of HSPC in AGM region of mouse embryo.
Animals ; DNA-Binding Proteins ; Gonads ; Hematopoiesis ; Hematopoietic Stem Cells ; Mesonephros ; Mice ; RNA-Binding Proteins/genetics* ; Yolk Sac

OBJECTIVE: To understand the differentiation of mesoderm-derived Flk1 cells on different locations of the early mouse embryonic development and to explore the potential of Flk1 cells to differentiate into mesenchymal lineage, like pericytes during vascular development. METHODS: Based on the Cre-LoxP system conditional knockout study strategy, the Flk1-Cre mice and ROSA26 reporter mice were used for lineage-tracing studies. The fate of the Flk1 progenitor cells was traced with the GFP population. The detection of mesoderm marker Flk1, hematopoietic cell-specific marker CD45, endothelial cell-specific markers CD31, CD144, and Emcn (endomucin), pericyte specific markers PDGFRβ and NG2, using the methods of immunohistochemistry, immunofluorescence, and flow cytometry should be combined to solve the concerned problems. RESULTS: Immunohistochemical staining of different fractions of E8.5-10.5 in the early embryogenesis of Flk1-Cre; ROSA26-EYFP mouse lineage showed that there were multiple populations in the Flk1 cell-derived GFP population surrounding hematopoietic sites, such as dorsal aortas, limb buds and yolk sac. In addition to hematopoietic cells, the CD31/Emcn typical endothelial cells distributed specifically along the blood vessel wall, there were many types of cell populations, such as mesenchymal-like cells. The immunofluorescence demonstrated that the cells of this group are neither hematopoietic, non-endothelial cells around the blood vessels, which are NG2+ pericytes. FACS analysis also confirmed that Flk1 cells contributed to pericytes. In addition, in different hematopoietic sites of the embryo, a small population of CD31+CD140B+ cell populations with a mesenchymal-like morphology was observed in the GFP population. CONCLUSION In the early stages of embryogenesis, mesoderm-derived Flk1 populations not only contribute to hematopoietic, endothelial, and muscle lineages, but also have a differentiation potential for mesenchymal lineage, like pericytes. The presumably observed CD31CD140B cell population may be a group of endothelial cells differentiated from Flk1 progenitor cells and undergoing an endothelium-to-mesenchymal transition, EndMT, gradually losing the endothelial surface-specific marker and also starting to express a pericyte surface-specific marker.
Animals ; Cell Differentiation ; Cell Lineage ; Mesoderm ; Mice ; Stem Cells ; Vascular Endothelial Growth Factor Receptor-2 ; Yolk Sac

Yolk sac tumors are rare malignant germ cell neoplasms that usually arise from the gonads. Extragonadal yolk sac tumors (EGYSTs) frequently occur in the mediastinum in post-pubertal females. EGYSTs in the pelvis are extremely rare, and to date, only thirteen cases have been reported in the English literature. Among them, the primary EGYST of the pelvic peritoneum in post-pubertal females has only been reported in ten cases. The present case describes a 26-year-old female diagnosed with primary peritoneal yolk sac tumor located in the rectouterine pouch. We report clinical and tumor imaging features, including ultrasound, computed tomography (CT), magnetic resonance images (MRI), positron emission tomography-computed tomography (PET-CT), and present a review of the literature.
Adult ; Douglas' Pouch ; Electrons ; Endodermal Sinus Tumor ; Female ; Gonads ; Humans ; Magnetic Resonance Imaging ; Mediastinum ; Neoplasms, Germ Cell and Embryonal ; Pelvis ; Peritoneum ; Ultrasonography ; Yolk Sac

The omphalomesenteric duct is a link between the primitive midgut and the yolk sac. Normally, the duct obliterates around 6 weeks of gestation, yet varying degrees of incomplete obliteration can take place in 1%–4% of infants. This study described the case of a newborn with a patent omphalomesenteric duct remnant fistula identified at birth with meconium in the umbilical cord. At birth, the infant presented meconium staining and meconium discharged within the umbilical cord. Physical examination and other examinations showed no other specific findings. The omphalomesenteric duct fistula was confirmed through the imaging study (abdominal ultrasonography, gastrografin enema). A surgery was carried out where the remnant was resected. The patient did well and was discharged soon after without complication.
Diatrizoate Meglumine ; Fistula ; Humans ; Infant ; Infant, Newborn ; Meconium ; Parturition ; Physical Examination ; Pregnancy ; Ultrasonography ; Umbilical Cord ; Umbilicus ; Vitelline Duct ; Yolk Sac

Ovarian cancer is the second most common gynecologic cancer worldwide and the six most common cancer among females. Germ cell tumorbs are the most common ovarian neoplasm in the first two decades of life constituting approximately two-thirds of all ovarian tumors. Malignant germ cell tumors constitute one-third of germ cell origin tutors and two-thirds of all ovarian malignancy in this age-group. This paper presents a case of a 19 year-old nulligravid who presented at the emergency room with abdominal pain, and was intraoperatively diagnosed with yolk sac tutor of the right ovary, stage 1A mature cystic teratoma of the left ovary. She subsequently underwent unilateral salpingooophorectomy and contralateral oophorocystectomy, left. Patient is advised chemotherapy postoperatively, with Bleomycin, Etoposide and Paclitaxel. This paper discusses the incidence, risk factors, prognosis and management of yolk of sac tutor in a young nulligravid.

PURPOSE: The aim of this study was to evaluate whether the presence of an intrauterine hematoma (IUH) on an early pregnancy ultrasound scan showing a live fetus was related to adverse perinatal outcomes. METHODS: We performed a retrospective cohort study to evaluate pregnant women who underwent an ultrasound examination in early pregnancy, between 6 weeks 0 days and 10 weeks 6 days. We compared the perinatal outcomes between women with and without firsttrimester IUH using the Mann-Whitney and Fisher exact tests. Furthermore, we performed a stepwise regression analysis to identify possible predictors of miscarriage among maternal characteristics, ultrasound parameters, and IUH. RESULTS: During the study period, data from 783 pregnancies were included, and the incidence of IUH was 4.5% (35 of 783). We observed a higher proportion of miscarriage following the scan (28.6% vs. 10%, P=0.003) and a larger yolk sac diameter during the scan (4.8 mm vs. 3.8 mm, P < 0.001) in the pregnant women with first-trimester IUH. There was no significant difference regard the prevalence of low birth weight (LBW; P=0.091), very LBW (P=0.370), or extremely LBW (P=0.600) between cases with IUH and without IUH, the cesarean section rate (68% vs. 81%, P=0.130), preterm delivery (16% vs. 16%, P>0.999), or the incidence of first-trimester vaginal bleeding (31% vs. 20%, P=0.130). Moreover, heart rate (HR) was the only variable that predicted miscarriage with statistical significance (P=0.017). CONCLUSION: Women with first-trimester IUH had a higher risk of miscarriage after the ultrasound scan. HR was the only variable that predicted miscarriage with statistical significance.
Abortion, Spontaneous ; Cesarean Section ; Cohort Studies ; Female ; Fetus ; Heart Rate ; Hematoma* ; Humans ; Incidence ; Infant, Low Birth Weight ; Infant, Newborn ; Pregnancy ; Pregnancy Complications ; Pregnancy Trimester, First ; Pregnant Women ; Prevalence ; Retrospective Studies ; Ultrasonography ; Uterine Hemorrhage ; Yolk Sac

The purpose of this article was to evaluate the accuracy of predicting amnionicity using the number of yolk sacs by diagnostic ultrasound examination in monochorionic (MC) multifetal pregnancies between 7 + 0 and 9 + 6 gestational weeks. A total of 97 patients with MC multifetal pregnancies underwent early ultrasound examination from 2004 to 2014 at Cheil General Hospital and Women's Healthcare Center. All patients for whom the number of yolk sacs was reported were included in this study. We compared the number of yolk sacs with amnionicity confirmed by an intertwine membrane. Overall, there was a 9.3% (9 cases) discrepancy in number of yolk sacs and amnionicity (4.3% for monochorionic diamniotic, 36.4% for monochorionic monoamniotic, and 33% for monochorionic triamniotic). Among the 9 cases with discrepancies, 4 cases with 2 yolk sacs were confirmed as monoamniotic pregnancies and 4 MC twin pregnancies showing a single yolk sac were diagnosed as diamniotic twin pregnancies. One case with 2 yolk sacs was identified as a triamniotic triplet pregnancy. In 9.3% of MC gestations, the number of yolk sacs was not correlated with the number of amnions in our study. To determine amnionicity in MC multifetal pregnancies, we recommend careful evaluation not of the number of yolk sacs but the presence or absence of intertwine dividing membrane after 8 gestational weeks.
Amnion* ; Delivery of Health Care ; Hospitals, General ; Humans ; Membranes ; Pregnancy* ; Pregnancy, Triplet ; Pregnancy, Twin ; Twins ; Ultrasonography ; Yolk Sac*

The production of red blood cells, termed erythropoiesis, occurs in two waves in the developing mouse embryo: first primitive erythropoiesis followed by definitive erythropoiesis. In the mouse embryo, both primitive and definitive erythropoiesis originates in the extra-embryonic yolk sac. The definitive wave then migrates to the fetal liver, fetal spleen and fetal bone marrow as these organs form. The fetal liver serves as the major organ for hematopoietic cell expansion and erythroid maturation after mid-gestation. The erythropoietic niche, which expresses critical cytokines such as stem cell factor (SCF), thrombopoietin (TPO) and the insulin-like growth factors IGF1 and IGF2, supports hematopoietic expansion in the fetal liver. Previously, our group demonstrated that DLK1⁺ hepatoblasts support fetal liver hematopoiesis through erythropoietin and SCF release as well as extracellular matrix deposition. Loss of DLK1⁺ hepatoblasts in Map2k4(−/−) mouse embryos resulted in decreased numbers of hematopoietic cells in fetal liver. Genes encoding proteinases and peptidases were found to be highly expressed in DLK1⁺ hepatoblasts. Capitalizing on this knowledge, and working on the assumption that these proteinases and peptidases are generating small, potentially biologically active peptides, we assessed a range of peptides for their ability to support erythropoiesis in vitro. We identified KS-13 (PCT/JP2010/067011) as an erythropoietic peptide-a peptide which enhances the production of red blood cells from progenitor cells. Here, we discuss the elements regulating embryonic erythropoiesis with special attention to niche cells, and demonstrate how this knowledge can be applied in the identification of niche-derived peptides with potential therapeutic capability.
Animals ; Bone Marrow ; Cytokines ; Embryonic Structures ; Erythrocytes ; Erythropoiesis ; Erythropoietin ; Extracellular Matrix ; Hematopoiesis ; In Vitro Techniques ; Liver ; Mice ; Peptide Hydrolases ; Peptides ; Somatomedins ; Spleen ; Stem Cell Factor ; Stem Cells ; Thrombopoietin ; Yolk Sac

In contrast to primitive hematopoiesis, during embryonic definitive hematopoiesis, it has been demonstrated that multilineage hematopoietic stem/progenitor cells (HSPCs) arise from hemogenic endothelium, and the endothelial to hematopoietic transition (EHT) exists within the yolk sac, placenta, AGM, mouse head vascular and extraembryonic vessels. However, whether hemogenic endothelial cells contribute to blood cell development at other sites of definitive hematopoiesis, including fetal liver and bone marrow, remains largely unknown. Recently, more and more researches showed that hematopoiesis within bone marrow had a close relationship with vascular endothelium development, too. This review summarizes the mechanism of EHT during embryo development, and discuss whether EHT exists in adult hematopoiesis.
Animals ; Bone Marrow ; Cell Differentiation ; Embryonic Development ; Endothelial Cells ; Endothelium ; Endothelium, Vascular ; Female ; Hemangioblasts ; Hematopoiesis ; Hematopoietic Stem Cells ; Mice ; Placenta ; Pregnancy ; Yolk Sac