Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases.

OBJECTIVE: Congenital megalourethra is a rare urogenital malformation characterized by dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. Postnatal complications include voiding and erectile dysfunction as well as renal insufficiency and pulmonary hypoplasia. To date, only a few prenatally diagnosed cases have been reported. We report on 10 cases diagnosed prenatally and their postnatal/autopsy findings. METHODS: The study involved retrospective chart review of all cases diagnosed antenatally in three tertiary care centers over 5 years. Antenatal ultrasound images and medical records from obstetrics, genetics, urology and nephrology were reviewed. RESULTS: Ten fetuses with megalourethra were identified at a median gestational age of 19 (range, 13-24) weeks and all were confirmed postnatally or at autopsy. Three pregnancies were terminated and seven continued. All cases presented with a distended bladder and megalourethra and all cases had normal karyotype. Of seven liveborn babies, one died neonatally of pulmonary hypoplasia. All six infants alive at the time of writing had a dysfunctional urethra and three suffered from impaired or end-stage renal disease. Associated anomalies were found in half of the cases. CONCLUSION: Congenital megalourethra is caused by abnormal development or hypoplasia of the penile erectile tissue, secondary to distal urethral obstruction. When the amniotic fluid volume is normal, survival is possible. However, all liveborn infants have voiding and renal dysfunction and sexual dysfunction is expected. Megalourethra should be considered in all male fetuses presenting prenatally with megacystis and detailed fetal ultrasonography should look for an elongated and/or distended phallic structure as well as any associated anomalies.

HER1 signaling mediates extravillous trophoblast differentiation in humans.

This study examines the role of HER1 signaling in the differentiation of proliferative extravillous trophoblast (EVT) into invasive EVT. Using the JAR choriocarcinoma cell line and placental villous explants as experimental models and immunohistochemical assessment of protein markers of EVT differentiation (downregulation of HER1 and Cx40 and upregulation of HER2 and alpha1 integrin), we show that the ability of decidual conditioned medium (DCM) to induce HER1/2 switching was abrogated in the presence of the HER1 antagonist, AG1478. Similarly, epidermal growth factor (EGF) treatment resulted in the downregulation of HER1 and an upregulation of HER2 expression, whereas co-incubation of EGF with AG1478 inhibited this response. However, EGF did not downregulate Cx40 or induce migration of EVT. In contrast, heparin-binding epidermal-like growth factor (HBEGF) stimulated dose-dependent JAR cell migration, which was inhibited by both AG1478 and AG825 (HER2 antagonist). Western blot analysis of HER1 activation demonstrated that HBEGF-mediated phosphorylation of the HER1 Tyr992 and Tyr1068 sites, while EGF activated the Tyr1045 site. Moreover, HBEGF induced a stronger and more sustained activation of both the mitogen-activated protein kinase and phosphoinositol 3 kinase (PIK3) signaling pathways. Migration assays using a panel of signaling pathway inhibitors demonstrated that the HBEGF-mediated migration was dependent on the PIK3 pathway. These results demonstrate that HBEGF-mediated HER1 signaling through PIK3 is an important component of EVT invasion.

Early intrauterine transfusion in severe red blood cell alloimmunization.

OBJECTIVE: To determine perinatal outcome in pregnancies with early severe red blood cell (RBC) alloimmunization. METHODS: This was a retrospective analysis of 30 patients requiring their first intrauterine transfusion (IUT) at < 22 weeks of gestation. Timing of the first IUT was based on evaluation of either the middle cerebral artery peak systolic velocity (MCA-PSV) or development of ascites. RESULTS: Thirty-three per cent of the patients had experienced a previous intrauterine fetal death as a result of RBC alloimmunization. Of these alloimmunized pregnancies, 26 (87%) were associated with anti-D, four (13%) with anti-Kell and 12 had more than one antibody type involved. The antibody titers before the first IUT ranged from 1:128 to 1:8024. All fetuses were severely anemic before the first IUT with a median hemoglobin (Hb) level of 37 (range, 3-81) g/L. The nine hydropic fetuses had a lower Hb level compared with non-hydropic fetuses (median 15 g/L vs. 42 g/L, P = 0.016). However, 15 (71%) non-hydropic fetuses had an Hb level of < 50 g/L before the first IUT. The median gestational age at the first IUT was 20.4 (range, 16-22) weeks, and between one and nine transfusions were needed during pregnancy. Transfusion was via the intrahepatic vein (IHV) (n = 19), umbilical vein (n = 6) or umbilical artery (n = 2), or was intracardiac (n = 2) or intraperitoneal (n = 1). Overall perinatal survival rate was 80% and did not differ between hydropic and non-hydropic fetuses. Median gestation at delivery, after exclusion of six intrauterine fetal deaths, was 36.7 (range, 27.8-38.4) weeks. CONCLUSIONS: In early severe RBC alloimmunization, fetuses can be severely anemic without hydrops, and prognosis cannot be predicted by the presence or absence of hydrops. Early IUT followed by serial transfusions is associated with a perinatal survival rate of about 80%.

Spontaneous ovarian hyperstimulation syndrome and hyperreactio luteinalis are entities in continuum.

Hyperreactio luteinalis (HL) and spontaneous ovarian hyperstimulation syndrome (OHSS) are both rare conditions during pregnancy. The clinical presentation of HL and OHSS are comparable and both should be differentiated from ovarian carcinoma. We present a case of a 32-year-old woman who was initially seen with markedly enlarged multicystic ovaries and ascites in the 13th week of a spontaneously conceived pregnancy. Ultrasonographic follow-up and magnetic resonance imaging of the ovaries were employed in order to avoid exploratory laparotomy and rule out ovarian carcinoma. The patient received supportive therapy and delivered a healthy child at term. The increasing use of ultrasonography may lead to more frequent findings of multicystic ovaries in spontaneously conceived pregnancies. Making the distinction between HL and spontaneous OHSS in these cases may be difficult though clinically irrelevant as the approach to treatment is similar in both.

Growing teratoma syndrome vs chemotherapeutic retroconversion: case report and review of the literature.

BACKGROUND: Immature ovarian teratoma is the third most common germ cell tumor (GCT) following dysgerminoma and endodermal sinus tumor. The treatment of choice during childbearing age for immature teratoma composes of unilateral oophorectomy and in case of metastatic disease postoperative chemotherapy (BEP). Finding a solid mass in the peritoneal or chest cavity during routine follow up raises the suspicion of distance recurrence. DiSaia was the first to describe the appearance of benign distant metastasis during routine follow up. He termed this phenomenon "chemotherapeutic retroconversion". Latter, Logothetis described what seems to be a similar phenomenon in testicular non-seminomatous germ cell tumor (NSGCT) that he called the "growing teratoma syndrome". CASE: We present a case of a 12-year-old girl treated for growing teratoma syndrome after primary ovarian GCT. CONCLUSION: Review of the literature shows that this syndrome and the "chemotherapeutic retroconversion" are probably the same phenomenon.

Monopaternal superfecundation of quintuplets after transfer of two embryos in an in vitro fertilization cycle.

OBJECTIVE: To present the first genetically proven identity of quintuplets in an IVF treatment cycle after transferring only two embryos. DESIGN: Case report. SETTING: IVF unit and obstetrics department of university-affiliated general hospital. PATIENT(S): Twenty-five-year-old patient undergoing IVF treatment for unexplained infertility. INTERVENTION(S): In vitro fertilization with intracytoplasmic sperm injection performed on 50% of oocytes, resulting in successful production of nine early-cleavage embryos. Transfer of two embryos on day 3 and freezing of the remaining embryos. MAIN OUTCOME MEASURE(S): Development of five separate embryonic sacs. Fetal reduction of three embryos at 12 weeks of gestation. RESULT(S): Successful completion of the twin pregnancy and full genetic analysis of the three embryos and the twins that were born at term. CONCLUSION(S): Despite transferring only two embryos, superfecundation occurred, resulting in five embryos. Genetic analysis can be used to determine paternity and identity of all the embryos.