Genetic Counseling for an Infertile Couple With Premature Chromatid Separation (PCS) Syndrome: A Case Report.

We report the first case of successful genetic counseling for an infertile couple with premature chromatid separation (PCS) syndrome. After our careful genetic counseling, the couple decided to continue infertility treatment. As a result, they gave birth to a baby (girl: 2,930 g) by caesarean section in May 2018. To our knowledge, there have not been any published reports regarding genetic counseling for an infertile couple with PCS after PubMed, EMBASE, and Web of Science searches until March 2024.

A Large Pure Uterine Lipoma: Its Diagnosis by Pelvic MRI and Histopathology.

The patient is a 74-year-old female previously diagnosed with an ovarian tumor at age 55. No changes were noted for one year; however, she was lost to follow-up. Eighteen years later, she presented to a local clinic complaining of diffuse abdominal and flank pain. Abdominal and pelvic ultrasound, CT, and gynecological examination showed a fatty pelvic tumor of approximately 12 cm in diameter. A left ovarian teratoma was suspected, and per the patient's request, she was transferred to Kobe Adventist Hospital for further evaluation and treatment. Pelvic MRI revealed no ovarian enlargement; however, a mass in the uterine body was appreciated with a high signal on T1 and T2 images and signal dropout in the fat suppression images, a finding most consistent with a uterine lipoma. A total hysterectomy and bilateral salpingo-oophorectomy was performed, and histopathological examination confirmed the preliminary diagnosis. No complications were observed during the postoperative period. A pure uterine lipoma is an extremely rare tumor with only a few cases reported worldwide. It is a benign tumor; however, it can sometimes be misdiagnosed as a malignant neoplasm. Pelvic MRI appears to be a useful tool in order to make the correct diagnosis preoperatively.

Sister Mary Joseph Nodule as a First Manifestation of a Metastatic Ovarian Cancer.

A 76-year-old female presented to our hospital with a 2 cm firm, nontender, protuberant umbilical nodule. She received treatment with antibiotics for suspected granuloma, with no improvement after two months. High levels of CA125 as well as an ovarian cyst and intrathoracic and intra-abdominal lesions on imaging studies made us suspect an ovarian cancer with a Sister Mary Joseph nodule (SMJN) and other metastases. A bilateral salpingo-oophorectomy and umbilical and omentum tumor resections were performed and a metastatic ovarian serous adenocarcinoma was diagnosed by histopathology. After surgery, the patient received chemotherapy with paclitaxel, carboplatin, and bevacizumab; however paclitaxel allergy was observed. As a result, chemotherapy continued with carboplatin and bevacizumab every three weeks for a total of 6 courses. Currently, she is still undergoing treatment with bevacizumab and CA125 levels have been progressively decreasing. SMJN is a rare umbilical metastasis which needs to be considered as a differential diagnosis in the presence of an umbilical tumor for prompt treatment initiation.

A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester.

During a routine prenatal exam, a 36-year-old female in her third pregnancy was diagnosed with fetal hydrops at 11 weeks of gestation. The pregnancy was monitored with periodic ultrasounds; however, spontaneous resolution was not observed. Amniotic fluid examination at 16 weeks of gestation showed a normal karyotype; however, macrocephaly, a narrow thorax, and shortening of the long bones were observed on ultrasonography. With the strong suspicion of a fetal skeletal disease, specifically thanatophoric dysplasia (TD), and after extensive genetic counseling, termination of the pregnancy was performed per the parents' wishes with mechanical cervical dilation and gemeprost (PGE1) administration. Following delivery, the fetus was found to have macrocephaly, a narrow bell-shaped thorax, and a protuberant abdomen, as well as curved long bones, H-shaped platyspondyly, and curved clavicles on skeletal radiography. As a result, the fetus was diagnosed with TD type I. This case illustrates that although TD is a rare disease, an accurate prenatal diagnosis can be made with the use of ultrasonography.

Harmful effects of anti-zona pellucida antibodies in folliculogenesis, oogenesis, and fertilization.

The zona pellucida (ZP) is an extracellular matrix that surrounds the mammalian oocyte and plays an important role in normal folliculogenesis and fertilization. Because of its strong immunogenicity and its possible relation with premature ovarian failure, we conducted the present study to examine whether or not anti-ZP antibodies impaired folliculogenesis. Mouse preantral follicles were cultured with anti-ZP antibodies to evaluate the effects on follicle growth and antral formation. The cultured follicles were also examined by electron microscope and assessed for oocyte maturation, fertilization capacity, and embryo development. The results showed that follicles cultured with anti-ZP antibodies had a smaller diameter than the controls. Also, these antibodies reduced antral formation, mucification, maturation of oocytes (metaphase II), and fertilization rates. Morphologically, ZP thickness was lower in the anti-ZP antibody groups. The quantity of granulosa cell microvillous processes that transverse the ZP was diminished in follicles cultured with anti-ZP antibodies. In conclusion, anti-ZP antibodies were harmful to the normal development of mouse follicles and oocytes in vitro. These antibodies may be a cause of premature ovarian failure syndrome because they disrupt the gap junctions between the oocyte and granulosa cells and, as a consequence, damage the bidirectional communication necessary for normal folliculogenesis.

Comparison of urinary and recombinant follicle-stimulating hormone in in vitro growth, maturation, and fertilization of mouse preantral follicles.

OBJECTIVE: To compare the effects of urinary and recombinant follicle-stimulating hormone (FSH) on follicular development, oocyte maturation, and fertilization. DESIGN: Prospective randomized animal study. SETTING: University-based research laboratory. ANIMAL(S): Normal (C57BL/6xDBA2) F1 mice. INTERVENTION(S): Collection of preantral follicles by mechanical dissection, in vitro growth (IVG) with urinary or recombinant FSH (100 mIU/mL), in vitro maturation (IVM), and fertilization. MAIN OUTCOME MEASURE(S): During IVG, follicle diameter and antral formation were evaluated. The number of cells per follicle was evaluated at the end of IVG. The 17beta-estradiol measurements were performed from conditioned media. After IVM, mucification and oocyte maturation rates were estimated and mature oocytes were fertilized. RESULT(S): No differences were observed in the antral formation rate of either group. Antral follicles in the urinary FSH group, however, showed a higher diameter but a lower number of cells per follicle than those in the recombinant FSH group. The level of 17beta-estradiol was also higher in the recombinant FSH group. The rate of mature oocytes developing into metaphase I or II was statistically significantly higher in the recombinant FSH group than in the urinary FSH group. CONCLUSION(S): Recombinant FSH provided better conditions than urinary FSH for the growth and development of mouse preantral follicles that could produce mature oocytes with fertilization capacity.