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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).

Kyung Eui PARK ; Sung Ah KIM ; Moon Joo KANG ; Hee Sun KIM ; Sung Im CHO ; Kyoung Won YOO ; So Yeon KIM ; Hye Jun LEE ; Sun Kyung OH ; Moon Woo SEONG ; Seung Yup KU ; Jong Kwan JUN ; Sung Sup PARK ; Young Min CHOI ; Shin Yong MOON

Clinical and Experimental Reproductive Medicine.2013;40(1):42-46. doi:10.5653/cerm.2013.40.1.42

Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N540K), and established a nested allele-specific PCR and sequence analysis for PGD using single lymphocyte cells. We performed this molecular genetic analysis to detect the presence of mutation among 20 blastomeres from 18 different embryos, and selected 9 embryos with the wild-type sequence (FGFR3:c.1620C). A successful pregnancy was achieved through a frozen-thawed cycle and resulted in the full-term birth of a normal neonate. To the best of our knowledge, this is the first report of a successful pregnancy and birth using single-cell allele-specific PCR and sequencing for PGD in an HCH patient.
Blastomeres ; Bone and Bones ; Dwarfism ; Embryonic Structures ; Female ; Fetus ; Humans ; Infant, Newborn ; Limb Deformities, Congenital ; Lordosis ; Lymphocytes ; Molecular Biology ; Parturition ; Polymerase Chain Reaction ; Pregnancy ; Preimplantation Diagnosis ; Prostaglandins D ; Receptor, Fibroblast Growth Factor, Type 3 ; Sequence Analysis

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Ovarian stimulation and liver dysfunction: Is a clinical relationship possible? A case of hepatic failure after repeated cycles of ovarian stimulation.

Emilio GIUGLIANO ; Elisa CAGNAZZO ; Giancarlo PANSINI ; Fortunato VESCE ; Roberto MARCI

Clinical and Experimental Reproductive Medicine.2013;40(1):38-41. doi:10.5653/cerm.2013.40.1.38

Liver damage induced by ovarian stimulation has been demonstrated in some cases reported in the literature. However, there has never been a fruitful debate on this topic. The present manuscript tried to fill this gap. We reported a case of a 35-year-old nulliparous woman admitted to our obstetric emergency room for severe pre-eclampsia. She had been subjected to four cycles of controlled ovarian stimulation for intrauterine insemination. At 32 weeks of gestation, she developed severe pre-eclampsia, which led to HELLP syndrome complicated by fatal liver failure. The etiological link between ovarian stimulation and HELLP syndrome is intriguing. Further investigations are needed to understand whether repeated ovarian stimulation may represent a risk factor in pre-eclamptic patients.
Aluminum Hydroxide ; Carbonates ; Emergencies ; Female ; Fruit ; HELLP Syndrome ; Humans ; Insemination ; Liver ; Liver Failure ; Ovarian Hyperstimulation Syndrome ; Ovulation Induction ; Pre-Eclampsia ; Pregnancy ; Risk Factors

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Barbara CHIFENTI ; Maria Teresa LOCCI ; Gloria LAZZERI ; Mariangela GUAGNOZZI ; Dino DINUCCI ; Federica CHIELLINI ; Maria Elena FILICE ; Maria Giovanna SALERNO ; Lorella BATTINI

Clinical and Experimental Reproductive Medicine.2013;40(1):33-37. doi:10.5653/cerm.2013.40.1.33

Autophagy is a degradation process that acts in response to environmental stressors. Recently, autophagy has been detected in normal term, preeclamptic and intrauterine growth-restricted placentas. The object of this work was to investigate the presence of autophagy in first trimester voluntary interruption of pregnancy placental villi by the expression of autophagy-related proteins, light chain 3 (LC3), and Beclin-1. In first trimester placental villi laser scanning confocal microscopy (LSCM) analysis revealed LC3 and Beclin-1 immunoreactivity prevalently located in villous cytotrophoblasts. Using LSCM, LC3, and Beclin-1 were localized to the cytoplasm of the trophoblast layer in human full-term placentas. Beclin-1 expression and LC3 activation were confirmed by western blotting. These data emphasize that autophagy activation is different among cytotrophoblasts and syncytiotrophoblasts depending on the gestational age and thus we speculate that autophagy might play a prosurvival role throughout human pregnancy.
Autophagy ; Blotting, Western ; Chorionic Villi ; Cytoplasm ; Female ; Gestational Age ; Humans ; Light ; Microscopy, Confocal ; Placenta ; Pregnancy ; Pregnancy Trimester, First ; Proteins ; Trophoblasts

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Natural conception rate following laparoscopic surgery in infertile women with endometriosis.

Hye Jun LEE ; Jae Eun LEE ; Seung Yup KU ; Seok Hyun KIM ; Jung Gu KIM ; Shin Yong MOON ; Young Min CHOI

Clinical and Experimental Reproductive Medicine.2013;40(1):29-32. doi:10.5653/cerm.2013.40.1.29

OBJECTIVE: To investigate the influence of laparoscopic surgery on the natural conception rate in infertile women with endometriosis during the first year after the operation. METHODS: We retrospectively studied 43 infertile women with surgically proven endometriosis. The natural conception rate was investigated for the 12 months after the laparoscopy. RESULTS: The overall pregnancy rate was 41.9% (18/43). 66.7% (12/18) and 94.4% (17/18) of the patients conceived within postoperative 3 months and 6 months, respectively. The spontaneous pregnancy rate was not associated with the severity of endometriosis or laparoscopic findings or the type of surgery. The pregnancy rate for stage IV was relatively low (20.0%) compared to stage I, II, and III (35.7%, 44.4%, and 53.3%, respectively), although it did not reach statistical significance. CONCLUSION: Conservative surgical treatment with laparoscopy and a prompt attempt at natural conception may be effective for infertile patients with endometriosis.
Endometriosis ; Female ; Fertilization ; Humans ; Infertility ; Laparoscopy ; Pregnancy Rate ; Retrospective Studies

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The utility of sperm DNA damage assay using toluidine blue and aniline blue staining in routine semen analysis.

Hee Sun KIM ; Moon Joo KANG ; Sung Ah KIM ; Sun Kyung OH ; Hoon KIM ; Seung Yup KU ; Seok Hyun KIM ; Shin Yong MOON ; Young Min CHOI

Clinical and Experimental Reproductive Medicine.2013;40(1):23-28. doi:10.5653/cerm.2013.40.1.23

OBJECTIVE: The aim of the present study was to examine the relationship among male age, strict morphology, and sperm chromatin structure and condensation. METHODS: Sperm samples from a total of 100 men underwent semen analysis, and sperm chromatin structure and condensation were assessed with toluidine blue (TB) and aniline blue (AB) tests. RESULTS: Prevalence of strict morphology of less than 4%, and abnormal sperm chromatin structure and condensation did not show any statistically significant differences according to male age (p=0.605, p=0.235, and p=0.080). No significant correlation was demonstrated among age of male partners, strict morphology, and abnormal sperm chromatin structure using TB and AB tests. However, abnormal sperm chromatin condensation was positively associated with sperm chromatin structure (r=0.594, p=0.000) and showed negative correlation with strict morphology (r=-0.219, p=0.029). CONCLUSION: The tests for sperm chromatin condensation showed a significant association with strict morphology. Further study is needed to elucidate the relationship between clinical outcome and sperm chromatin tests.
Aniline Compounds ; Chromatin ; DNA ; DNA Damage ; Humans ; Male ; Prevalence ; Semen ; Semen Analysis ; Spermatozoa ; Tolonium Chloride

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Altered expression of norepinephrine transporter and norepinephrine in human placenta cause pre-eclampsia through regulated trophoblast invasion.

Kyu Hwan NA ; Jong Ho CHOI ; Chun Hyung KIM ; Kwang Soo KIM ; Gi Jin KIM

Clinical and Experimental Reproductive Medicine.2013;40(1):12-22. doi:10.5653/cerm.2013.40.1.12

OBJECTIVE: We investigated the norepinephrine transporter (NET) expression in normal and pre-eclamptic placentas and analyzed the invasion activity of trophoblastic cells based on norepinephrine (NE)-NET regulation. METHODS: NET and NE expression levels were examined by western blot and enzyme-linked immunosorbent assay, respectively. Trophoblast invasion activity, depending on NE-NET regulation, was determined by NET-small interfering RNA (siRNA) and NET transfection into the human extravillous trophoblast cells with or without NE treatment and invasion rates were analyzed by zymography and an invasion assay. RESULTS: NET mRNA was expressed at a low level in pre-eclamptic placentas compared with normal placentas and NE concentration in maternal plasma increased significantly in pre-eclamptic women compared to normal pregnant women (p<0.05). NET gene upregulation and NE treatment stimulated trophoblast cell invasion up to 2.5-fold (p<0.05) by stimulating matrix metalloproteinase-9 activity via the phosphoinositol-3-kinase/AKT signaling pathway, whereas NET-siRNA with NE treatment reduced invasion rates. CONCLUSION: NET expression is reduced by inadequate regulation of NE levels during placental development. This suggests that a complementary balance between NET and NE regulates trophoblast cell invasion activities during placental development.
Blotting, Western ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Matrix Metalloproteinase 9 ; Norepinephrine ; Norepinephrine Plasma Membrane Transport Proteins ; Placenta ; Placentation ; Plasma ; Pre-Eclampsia ; Pregnant Women ; RNA ; RNA, Messenger ; RNA, Small Interfering ; Transfection ; Trophoblasts ; Up-Regulation

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Fertilization and pregnancy potential of immature oocytes from stimulated intracytoplasmic sperm injection cycles.

Seung Bi SHIN ; Jae Won CHO ; Sun Hee LEE ; Kwang Moon YANG ; Chun Kyu LIM ; Hyoung Song LEE

Clinical and Experimental Reproductive Medicine.2013;40(1):7-11. doi:10.5653/cerm.2013.40.1.7

OBJECTIVE: We evaluated the fertilization potential of immature oocytes obtained from controlled ovarian hyperstimulation cycles of patients undergoing ICSI. METHODS: We retrospectively analyzed 463 ICSI cycles containing at least one immature oocyte at oocyte denudation. ICSI was performed on mature oocytes at oocyte denudation (metaphase-II [MII] oocytes) and the oocytes that extruded the first polar body between oocyte denudation and ICSI (MI-MII oocytes). Fertilization and early embryonic development were compared between MII and MI-MII oocytes. To investigate the pregnancy potential of MI-MII oocytes, the pregnancy outcome was analyzed in 24 ICSI cycles containing only immature oocytes at retrieval. RESULTS: The fertilization rate of MI-MII oocytes (37.0%) was significantly lower than that of MII oocytes (72.3%). The rates of delayed embryos and damaged embryos did not significantly differ. Eighty-one immature oocytes were retrieved in 24 cycles that retrieved only immature oocytes and 61 (75.3%) of them were in the MI stage. ICSI was performed on 36 oocytes (59.0%) that extruded the first polar body before ICSI and nine MI-MII oocytes (25.0%) were fertilized. Embryo transfers were performed in five cycles. Pregnancy was observed in one cycle, but it ended in biochemical pregnancy. CONCLUSION: In ICSI cycles, oocytes that extruded the first polar body between denudation and ICSI can be used as a source of oocytes for sperm injection. However, their fertilization and pregnancy potential are lower than that of mature oocytes. Therefore, ovarian stimulation should be performed carefully for mature oocytes obtained at retrieval, especially in cycles with a small number of retrieved oocytes.
Embryo Transfer ; Embryonic Development ; Embryonic Structures ; Female ; Fertilization ; Humans ; Oocytes ; Ovulation Induction ; Polar Bodies ; Pregnancy ; Pregnancy Outcome ; Retrospective Studies ; Sperm Injections, Intracytoplasmic ; Spermatozoa

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Nuclear localization of Obox4 is dependent on its homeobox domain.

Geon Tae PARK ; Kyung Ah LEE

Clinical and Experimental Reproductive Medicine.2013;40(1):1-6. doi:10.5653/cerm.2013.40.1.1

OBJECTIVE: Oocyte-specific homeobox 4 (Obox4) is preferentially expressed in oocytes and plays an important role in the completion of meiosis of oocytes. However, the Obox4 expression pattern has not been reported yet. In this study, we investigated the subcellular localization of Obox4 using a green fluorescent protein (GFP) fusion expression system. METHODS: Three regions of Obox4 were divided and fused to the GFP expression vector. The partly deleted homeodomain (HD) regions of Obox4 were also fused to the GFP expression vector. The recombinant vectors were transfected into HEK-293T cells plated onto coated glass coverslips. The transfected cells were stained with 4',6-diamidino-2-phenylindol and photographed using a fluorescence microscope. RESULTS: Mutants containing the HD region as well as full-length Obox4 were clearly localized to the nucleus. In contrast, the other mutants of either the N-terminal or C-terminal region without HD had impaired nuclear localization. We also found that the N-terminal and C-terminal of the Obox HD contributed to nuclear localization and the entire HD was necessary for nuclear localization of Obox4. CONCLUSION: Based on the results of the present study, we demonstrated that the intact HD region of Obox4 is responsible for the nuclear localization of Obox4 protein in cells.
Fluorescence ; Genes, Homeobox ; Glass ; Meiosis ; Oocytes

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Impact of glycosylation on the unimpaired functions of the sperm.

Yong Pil CHEON ; Chung Hoon KIM

Clinical and Experimental Reproductive Medicine.2015;42(3):77-85. doi:10.5653/cerm.2015.42.3.77

One of the key factors of early development is the specification of competence between the oocyte and the sperm, which occurs during gametogenesis. However, the starting point, growth, and maturation for acquiring competence during spermatogenesis and oogenesis in mammals are very different. Spermatogenesis includes spermiogenesis, but such a metamorphosis is not observed during oogenesis. Glycosylation, a ubiquitous modification, is a preliminary requisite for distribution of the structural and functional components of spermatids for metamorphosis. In addition, glycosylation using epididymal or female genital secretory glycans is an important process for the sperm maturation, the acquisition of the potential for fertilization, and the acceleration of early embryo development. However, nonemzymatic unexpected covalent bonding of a carbohydrate and malglycosylation can result in falling fertility rates as shown in the diabetic male. So far, glycosylation during spermatogenesis and the dynamics of the plasma membrane in the process of capacitation and fertilization have been evaluated, and a powerful role of glycosylation in spermatogenesis and early development is also suggested by structural bioinformatics, functional genomics, and functional proteomics. Further understanding of glycosylation is needed to provide a better understanding of fertilization and embryo development and for the development of new diagnostic and therapeutic tools for infertility.
Acceleration ; Birth Rate ; Cell Membrane ; Computational Biology ; Embryonic Development ; Female ; Fertilization ; Gametogenesis ; Genomics ; Glycosylation* ; Humans ; Infertility ; Male ; Mammals ; Mental Competency ; Oocytes ; Oogenesis ; Polysaccharides ; Pregnancy ; Proteomics ; Sperm Maturation ; Spermatids ; Spermatogenesis ; Spermatozoa*

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Pulmonary and retroperitoneal benign metastasizing leiomyoma.

Su Yeon LIM ; Joon Cheol PARK ; Jin Gon BAE ; Jong In KIM ; Jeong Ho RHEE

Clinical and Experimental Reproductive Medicine.2011;38(3):174-177. doi:10.5653/cerm.2011.38.3.174

Benign metastasizing leiomyoma (BML) is a rare disease, which usually occurs in women with a history of a prior hysterectomy or myomectomy for benign uterine leiomyoma, and has the potential to metastasize to distant sites, such as the lung, lymph nodes, muscular tissue, heart, or retroperitoneum. These lesions are slow-growing, asymptomatic, and usually found incidentally. The prognosis of BML is also excellent. However, there has been debate on the origin and the correct classification of BML, and there are no guidelines for the treatment of BML. We report here on a rare case of BML in both the retroperitoneal cavity and lung in a 48-year-old woman with a history of hysterectomy due to histologically benign uterine leiomyoma. The patient underwent retroperitoneal mass excision and bilateral salpingo-oophorectomy, and then wedge biopsy of two pulmonary nodules was performed additionally 9 days later. Until now, there has been no sign of recurrence and the patient remains asymptomatic. To our knowledge, pulmonary BML is rare and the co-existence of the retroperitoneal metastases after previous hysterectomy is even rarer.
Biopsy ; Female ; Heart ; Humans ; Hysterectomy ; Leiomyoma ; Lung ; Lymph Nodes ; Middle Aged ; Neoplasm Metastasis ; Prognosis ; Rare Diseases ; Recurrence

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