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1.
Mol Biol Rep ; 41(9): 5961-9, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24969481

RESUMEN

The HSD11B1 gene encodes the type 1 isoform of the 11-ß-hydroxysteroid dehydrogenase that is responsible for the regeneration of glucocorticoids from hormonally-inactive metabolites into active forms in a tissue-specific manner. Altered activity of the enzyme, and certain genetic variants of the HSD11B1 gene, has been associated with various metabolic morbidities. In this study, our aim was to systematically test the potential role of the HSD11B1's single nucleotide polymorphisms (SNPs) in polycystic ovary syndrome (PCOS). Nine HSD11B1 SNPs were selected and genotyped using Taqman SNP assays on real-time PCR in a group of PCOS patients (n = 58) and in age-matched healthy controls (n = 64). Genotype-phenotype correlations were determined and haplotype analysis was performed. An in silico prediction for potential transcription factor binding sites was also performed. Of the 5 promoter SNPs, 3 (rs760951; rs4844880; rs3753519) were less frequent in the PCOS group compared to healthy controls. SNPs rs4844880 and rs3753519 were in a complete linkage and the mutant haplotype (AA) was less frequent in the PCOS group. No association between HSD11B1 variants and clinical, pathological findings was observed in patients, but in healthy women the rs4844880 and the AA haplotype were associated with higher levels of homeostasis model assessment of beta cell function. The polymorphic form of the rs4844880 was predicted to bind Pbx-1. Promoter SNPs of the HSD11B1 gene might exert a potential genetic protective role against the development of PCOS, possibly via their beneficial effect on carbohydrate homeostasis due to facilitation of insulin efflux from pancreatic beta-cells.


Asunto(s)
11-beta-Hidroxiesteroide Deshidrogenasa de Tipo 1/genética , Síndrome del Ovario Poliquístico/genética , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Adulto , Femenino , Estudios de Asociación Genética , Haplotipos , Humanos , Adulto Joven
2.
Fertil Steril ; 90(5): 2003.e17-20, 2008 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-18442820

RESUMEN

OBJECTIVE: To present a case report of a unilateral triplet ectopic pregnancy (EP) conceived by IVF-embryo transfer. DESIGN: Case report. SETTING: University Hospital, Budapest, Hungary. PATIENT(S): A 26-year-old infertile woman with a history of right salpingectomy, hyperprolactinemia, and male factor infertility underwent IVF-embryo transfer of three embryos. Early transvaginal sonography revealed a triplet pregnancy in the left fallopian tube (two at interstitial and one at ampullary location). INTERVENTION(S): Multiple dose methotrexate (MTX) therapy was applied. MAIN OUTCOME MEASURE(S): Follow-up pelvic ultrasounds and laboratory testing confirmed fetal cardiac activity cessation and decreasing beta-hCG levels. RESULT(S): In spite of the decreasing beta-hCG levels the tube's diameter increased, the patient's symptoms escalated, and finally, the level of hemoglobin and hematocrit decreased. Laparotomy was performed with the removal of the left tube and cornual part of the uterus. CONCLUSION(S): Our case represents a very rare condition, a unilateral triplet EP after IVF-embryo transfer-the first one ever reported in the literature. After IVF-embryo transfer early ultrasound examinations are important to identify EPs at an early stage when medical management can still be taken into consideration. Strict monitoring is necessary to identify the success of medical intervention or the need for surgery.


Asunto(s)
Transferencia de Embrión , Fertilización In Vitro , Embarazo Múltiple , Embarazo Tubario/diagnóstico , Trillizos , Abortivos no Esteroideos/uso terapéutico , Aborto Terapéutico , Adulto , Gonadotropina Coriónica Humana de Subunidad beta/sangre , Femenino , Procedimientos Quirúrgicos Ginecológicos , Humanos , Metotrexato/uso terapéutico , Embarazo , Embarazo Tubario/diagnóstico por imagen , Embarazo Tubario/metabolismo , Embarazo Tubario/terapia , Resultado del Tratamiento , Ultrasonografía Prenatal
3.
Gynecol Endocrinol ; 22(9): 521-5, 2006 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-17071538

RESUMEN

Variants of the leptin receptor gene (LEPR) may modulate the effect of elevated serum leptin levels in pre-eclampsia. The aim of our study was to evaluate the LEPR gene polymorphisms Lys109Arg (A109G) and Gln223Arg (A223G) in severely pre-eclamptic women. In a case-control study, we analyzed blood samples from 124 severely pre-eclamptic patients and 107 healthy control women by the polymerase chain reaction-restriction fragment length polymorphism method. The Pearson chi2 test was used to estimate odds ratios (OR) and 95% confidence intervals (CI). The association was adjusted for maternal age, pre-pregnancy body mass index and primiparity with logistic regression analysis. Pregnant women with the LEPR 223G allele (223A/G or 223G/G genotype) had almost double the risk of developing severe pre-eclampsia compared with patients with the 223A/A genotype (adjusted OR = 1.92, 95% CI: 1.07-3.41). Genotype variants of LEPR A109G alone did not affect the risk of severe pre-eclampsia. Haplotype estimation of A109G and A223G polymorphisms of the LEPR gene revealed that the G-A haplotype versus other pooled haplotypes was significantly less common in the pre-eclamptic group (p < 0.01), while the G-G haplotype versus others was overrepresented among severely pre-eclamptic patients (p < 0.01), compared with controls. In conclusion, our data indicate that LEPR A223G polymorphism may individually modify the risk of severe pre-eclampsia.


Asunto(s)
Polimorfismo Genético/genética , Preeclampsia/genética , Preeclampsia/patología , Receptores de Superficie Celular/genética , Adolescente , Adulto , Femenino , Genotipo , Humanos , Embarazo , Receptores de Leptina
4.
Gynecol Endocrinol ; 21(2): 93-100, 2005 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16109595

RESUMEN

We report herein findings on 181 patients, suffering from pelvic endometriosis confirmed by histology, whose main symptom was chronic pelvic pain (CPP). They attended the outpatient clinic at the 1st Department of Obstetrics and Gynaecology, Semmelweis University in Budapest, between 1 January 1995 and 1 January 2000. The extent of pelvic endometriosis was determined on the basis of the 1985 revised scoring system of the American Fertility Society (R-AFS). The short form of the McGill pain questionnaire was used for the evaluation of CPP. After the first operative intervention, therapy with a gonadotropin-releasing hormone (GnRH) analog was given for 6 months. Second-look laparoscopy was performed 8-10 weeks after the end of GnRH-analog treatment, which was followed by a non-conventionally administered, monophasic oral contraceptive (OC) treatment. In the long term, 118 patients received the non-conventionally administered, monophasic OC treatment, which contained a third-generation progestogen, to be taken continuously for at least 6 months. The other 63 patients who did not receive OC treatment for one reason or another were evaluated as a control group. We analyzed data on CPP before the first surgical intervention, then following therapy with the GnRH analog at the second-look operation, and then after 6, 12, 18 and 24 months. We also reviewed potential causes of CPP, especially focused on endometriosis. No correlation was found between the stage of endometriosis according to R-AFS score and the severity of CPP. At the 24-month follow-up after second-look laparoscopy, the non-conventionally administered monophasic OC treatment was found not only to significantly reduce pain scores, but also the required radical operative solution (hysterectomy plus bilateral adnexectomy) for CPP by OC users.


Asunto(s)
Anticonceptivos Orales Combinados/uso terapéutico , Endometriosis/tratamiento farmacológico , Hormona Liberadora de Gonadotropina/uso terapéutico , Dolor Pélvico/prevención & control , Terapia Combinada , Anticonceptivos Orales Combinados/administración & dosificación , Esquema de Medicación , Dismenorrea/tratamiento farmacológico , Dispareunia/tratamiento farmacológico , Endometriosis/complicaciones , Endometriosis/cirugía , Femenino , Humanos , Laparoscopía , Dimensión del Dolor , Dolor Pélvico/clasificación , Dolor Pélvico/etiología , Prevención Secundaria
5.
Fertil Steril ; 83(3): 699-704, 2005 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-15749500

RESUMEN

OBJECTIVE: To compare the main outcome of IUI with the Gynetics catheter (Gynetics Medical Products, Hamont-Achel, Belgium) or the Makler cannula (Sefi-Medical Instruments, Haifa, Israel). DESIGN: Prospective, randomized study. SETTING: Infertility and endocrinology unit in a university hospital. PATIENT(S): Two hundred fifty-one infertile couples undergoing 784 consecutive IUI treatments. INTERVENTION(S): Patients were randomly assigned to undergo IUI treatment with either the Gynetics catheter (124 patients) or the Makler cannula (127 patients). MAIN OUTCOME MEASURE(S): Primary outcome measures were pregnancy and cumulative pregnancy rates. Secondary outcome measures were the ease of introduction of the catheter, the presence of bleeding, and semen regurgitation after removal of the catheter. RESULT(S): The use of the Gynetics catheter resulted in similar pregnancy (10.4% vs. 9.7%) and cumulative pregnancy rates (27.9% vs. 26.4%) as compared with the Makler cannula. Difficult introduction of the catheter was more frequent in the Gynetics group than in the Makler group (19.4% vs. 8.0%, respectively), but the frequency of bleeding did not differ between groups. Sample regurgitation was observed more often in the Makler group than in the Gynetics group (49.9% vs. 17.9%, respectively). CONCLUSION(S): A lower frequency of sperm regurgitation and a higher frequency of difficult introduction was observed when the Gynetics catheter was used. However, there was no significant difference in pregnancy rates with use of either the Gynetics catheter or the Makler cannula.


Asunto(s)
Cateterismo/instrumentación , Infertilidad/terapia , Inseminación Artificial/instrumentación , Adulto , Femenino , Humanos , Inseminación Artificial/métodos , Masculino , Embarazo , Resultado del Embarazo , Estudios Prospectivos , Espermatozoides
7.
Magy Seb ; 55(5): 307-12, 2002 Oct.
Artículo en Húngaro | MEDLINE | ID: mdl-12474516

RESUMEN

We present three rare cases of intestinal endometriosis. The patients were treated at the Endometriosis Clinic of the 1st Dept. of Obstetrics and Gynecology of the Semmelweis University, Budapest. Their main symptom besides the classic symptoms of endometriosis (dysmenorrhea, dyspareunia, pelvic pain) was the catamenial haematochesia--a subacute obstruction which became more intensive in the perimenstrum and needed medical treatment but no surgical intervention. Because of the recurrent complaints, after detailed check-up and biopsy of the obstructing intestinal endometriosis, anterior resection of the rectum was performed with endocoagulation or extirpation of other endometriosis implants of the pelvis. Depending on the severity of pre or postoperative complaints patients underwent a GnRH-analogue therapy for six months. In one patient because of the patient's age, and extensive retrocervical-deep endometriosis causing serious dyspareunia--the resection was performed with additional hysterectomy and adnexectomy (TAH). Recently the patient is on monophasic hormone replacement therapy. In the two other patients after a second-look laparoscopy with testing the lumen of the tubes treatment was started for the induction--because of infertility. We give an overview of the frequency, incidence and possible pathomechanism of pelvic endometriosis. We describe the modern diagnostic and therapeutic tools of pelvic endometriosis.


Asunto(s)
Endometriosis/complicaciones , Enfermedades Intestinales/complicaciones , Obstrucción Intestinal/etiología , Adulto , Endometriosis/diagnóstico , Endometriosis/epidemiología , Endometriosis/terapia , Femenino , Humanos , Incidencia , Enfermedades Intestinales/diagnóstico , Enfermedades Intestinales/epidemiología , Enfermedades Intestinales/terapia , Obstrucción Intestinal/diagnóstico , Obstrucción Intestinal/epidemiología , Obstrucción Intestinal/terapia
8.
Orv Hetil ; 143(40): 2279-83, 2002 Oct 06.
Artículo en Húngaro | MEDLINE | ID: mdl-12420582

RESUMEN

INTRODUCTION: Gynecological problems are one of the most frequent somatic complications of eating disorders. AIMS: The purpose of the present study was to assess the role of improper eating habits causing menstrual disturbances, anovulation and related hormonal changes. Latent bulimia nervosa is in the focus of attention since amenorrhea is considered as a diagnostic criterion of anorexia nervosa. METHOD: Subjects of the BITE (Bulimia Investigation Test, Edinburgh) test were infertile patients (n = 34) of the gynecological outpatient departments after medical examination, blood-test (LH, FSH, androstenedione, DHEAS, progesterone, testosterone, SHBG, prolactin) and ultrasonic examination (uterus and ovaries). RESULTS: Symptoms and severity subscales of the BITE test and body mass index (BMI) were close correlation (p = 0.003, p = 0.033). In comparison with previous results, EDNOS (Eating Disorders Not Otherwise Specified) prevalence was 48%. Of hormonal changes, low LH and FSH levels (6/6) and hyperandrogenism (5/6) were significant in patients with subclinical eating disorders (n = 6) by infertile women as compared with the "normal" infertile group (n = 18; 7/18, 8/18). CONCLUSION: The recent results suggests that unsatisfactory nutrition (bulimic binges, "crash diet") is as relevant in hormonal dysfunction, menstrual disturbances and infertility as pathologically low weight in anorexia nervosa. Excessive application of contraceptives in therapy has to be taken into consideration.


Asunto(s)
Bulimia/sangre , Bulimia/complicaciones , Enfermedades de los Genitales Femeninos/sangre , Enfermedades de los Genitales Femeninos/etiología , Hormonas/sangre , Adulto , Amenorrea/etiología , Androstenodiona/sangre , Anovulación/etiología , Índice de Masa Corporal , Peso Corporal , Deshidroepiandrosterona/sangre , Estradiol/sangre , Femenino , Hormona Folículo Estimulante/sangre , Humanos , Hidrocortisona/sangre , Infertilidad Femenina/etiología , Hormona Luteinizante/sangre , Progesterona/sangre , Prolactina/sangre , Globulina de Unión a Hormona Sexual/metabolismo , Testosterona/sangre , Tirotropina/sangre
9.
Orv Hetil ; 143(25): 1529-32, 2002 Jun 23.
Artículo en Húngaro | MEDLINE | ID: mdl-12577406

RESUMEN

OBJECTIVE: This report summarizes recent clinically relevant findings concerning gynecological psychosomatic symptoms of eating disorders the implications for psychiatric diagnosis and management. METHOD: The author conducted selective reviews of the literature from the last 15 years. RESULTS: Malnutrition, low body weight are also an important cause of anovulation and amenorrhoea. Eating disorders such as anorexia nervosa, bulimia nervosa are associated with potential negative consequences during pregnancy, including higher rates of miscarriage, low birth weight, obstetric complications and post partum depression. CONCLUSION: The most suitable treatment for infertility secondary to weight related amenorrhoea or anovulation is therefore dietary rather than induction of anovulation. This highlights the importance of early detection and treatment by primary care teams. There is a need to develop preventive intervention strategies.


Asunto(s)
Trastornos de Alimentación y de la Ingestión de Alimentos/complicaciones , Enfermedades de los Genitales Femeninos/etiología , Complicaciones del Embarazo/etiología , Bulimia/complicaciones , Depresión/complicaciones , Trastornos de Alimentación y de la Ingestión de Alimentos/epidemiología , Femenino , Humanos , Trastornos de la Menstruación/etiología , Complicaciones del Trabajo de Parto/etiología , Ovulación , Síndrome del Ovario Poliquístico/complicaciones , Embarazo , Prevalencia
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