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1.
Biomedicines ; 12(5)2024 May 08.
Article in English | MEDLINE | ID: mdl-38790996

ABSTRACT

INTRODUCTION: Metabolic syndrome (MetS), characterized by visceral obesity, glucose abnormalities, hypertension and dyslipidemia, poses a significant risk of diabetes and cardiovascular disease. Turner syndrome (TS), resulting from X chromosome abnormalities, carries health complications. Despite growing evidence of an increased risk of MetS in women with TS, its prevalence and risk factors remain under investigation. These considerations are further complicated by the varying timing and dosages of treatment with growth hormone and sex hormones. METHODS: We conducted a cross-sectional study comparing 44 individuals with TS with 52 age-matched control subjects. Growth hormone treatment in the study group was administered for varying lengths of time, depending on clinical response. We collected anthropometric, metabolic, endocrine and body composition data. Statistical analyses included logistic regression. RESULTS: Baseline characteristics, including age, BMI and height, were comparable between the TS and control groups. Hormonally, individuals with TS showed lower levels of testosterone, DHEA-S, and cortisol, as well as elevated FSH. Lipid profiles indicated an atherogenic profile, and the body composition analysis showed increased visceral adipose tissue in those with TS. Other metabolic abnormalities were common in individuals with TS too, including hypertension and impaired fasting glucose levels. The risk of MetS components was assessed in subgroups according to karyotypes: monosomy 45X0 vs. other mosaic karyotypes. Logistic regression analysis showed a significant association between increased visceral adipose tissue in subjects with TS. Those with metabolic complications tended to have less muscle strength compared to those without these complications in both the study and control groups. CONCLUSIONS: This study highlights the unique metabolic and cardiovascular risk profile of individuals with TS, characterized by atherogenic lipids, higher levels of visceral adipose tissue and increased metabolic abnormalities. These findings underscore the importance of monitoring metabolic health in individuals with TS, regardless of age, BMI or karyotype, and suggest the potential benefits of lifestyle modification, building more muscle strength, and weight control strategies. Further research is needed to better understand and address the metabolic challenges faced by women with TS.

2.
Endokrynol Pol ; 2024 May 06.
Article in English | MEDLINE | ID: mdl-38708911

ABSTRACT

Mental anorexia nervosa is a rare, potentially severe, chronic, and recurrent mental disorder that occurs more often in women than in men, especially during the childbearing years. The disorder is associated with an increased risk of mortality, mainly related to the physical consequences of severe malnutrition and suicide. Malnutrition of the body can cause serious hormonal and somatic problems. Despite significant hormonal disturbances that reduce fertility, a woman with anorexia can become pregnant. A new phenomenon now seen with increasing frequency is pregorexia, an eating disorder associated with pregnancy. It involves the use of dietary restrictions to avoid excessive weight gain during pregnancy. Pregnancy changes the hormonal economy mainly due to the development of the placenta, which secretes many hormones, not just sex hormones. Mental anorexia poses a significant risk to both mother and child if not diagnosed and treated properly. Treatment of anorexia involves simultaneous somatic and psychological treatment. During pregnancy, additional care should be taken to create an optimal environment for the developing foetus. Unfortunately, there is still a lack of research providing guidance in this area. Available studies are mainly case reports or reports focusing on specific clinical situations. It is worth noting that no study to date has attempted a comprehensive assessment of endocrine disruption in pregnant women with anorexia. Recognising the existing knowledge gap on endocrine disorders in pregnant women with anorexia nervosa, a systematic review of the literature was conducted.

3.
Biomedicines ; 12(4)2024 Mar 29.
Article in English | MEDLINE | ID: mdl-38672114

ABSTRACT

The absence of non-invasive methods for assessing bone material and structural changes is a significant diagnostic challenge. Dual-energy X-ray absorptiometry (DXA) bone mineral density (BMD) testing is the gold standard for osteoporosis diagnosis. BMD and the trabecular bone score (TBS) have facilitated targeted osteoporosis prevention and treatment in clinical settings. The findings from this study indicate that BMD modulation in young women is influenced by various hormones, potentially compromising the diagnostic precision of BMD for subclinical bone demineralization. A total of 205 women aged 19 to 37 underwent anthropometric measurements and hormonal tests. BMD was determined using DXA, and TBS values were computed from the lumbar spine L1-L4 segment. The multivariate analysis findings suggest that BMD might not be determined by hormones. The relationship between TBS and TSH was statistically significant in the univariate analysis, which indicates the efficacy of further studies to determine the link between TBS and specific hormones. Analyzing the strength of the correlation between TBS and hormones in the univariate analysis shows which factors are worth considering in further analyses. This makes it possible to create better techniques that will help identify young women who are at a higher risk of developing osteoporosis.

4.
J Clin Med ; 12(23)2023 Nov 22.
Article in English | MEDLINE | ID: mdl-38068279

ABSTRACT

We present here a case of complex uterine anomaly-obstructed hemivagina with ipsilateral renal agenesis (OHVIRA), also known as Herlyn-Werner-Wunderlich syndrome in a 13-year-old girl with a history of recurrent urinary tract infections (rUTI). In the emergency room, a trans-abdominal sonography revealed an ovarian cyst and renal agenesis, without any suspicion of vaginal obstruction. This led to a delay in the diagnosis of this uncommon anomaly. Finally, MRI findings confirmed the presence of OHVIRA syndrome. As the congenital anomalies of the kidney and urinary tract (CAKUT) are present in almost one third of cases associated with genital malformations, urologists should carefully screen patients with rUTI. The patient underwent simultaneous laparoscopy and vaginoscopy, which was in our opinion the most appropriate therapeutic decision. In this article, we are also going to discuss the role of laparoscopy in the management of OHVIRA syndrome, as well as other surgical techniques described in the literature.

5.
Biomedicines ; 11(12)2023 Nov 24.
Article in English | MEDLINE | ID: mdl-38137346

ABSTRACT

INTRODUCTION: Patients with Turner syndrome (TS) often face skeletal and muscular challenges, including reduced bone mineral density (BMD) and muscle weakness. This comprehensive study sheds light on the complex interplay between muscle strength, BMD, and metabolic and endocrine parameters in TS and healthy subjects. METHODS: A cross-sectional study involving 42 TS patients and 70 healthy women was conducted. All patients had their BMD determined in the L1-L4 lumbar spine section and in the whole skeleton as well as the parameters of body fat mass (BF), and visceral fat mass (VF) were also determined. The maximum gripping force was measured with a hydraulic manual dynamometer. In addition, a number of blood hormonal and metabolic parameters were determined. RESULTS: In the TS group, hand grip strength correlated positively with triglyceride levels but not with BMD. Healthy individuals had a positive link between hand grip strength and BMD, while patients with TS did not show a significant association between the two. A trend suggested that longer recombinant human growth hormone (rhGH) therapy might improve BMD in the L1-L4 region. Multiple linear regression analysis revealed that muscle strength assessment may be a potential exponent of reduced BMD, and also used clinically in young adult women but not in individuals with TS. CONCLUSIONS: The relationship between BMD variables and hand grip might differ between the two groups, potentially indicating distinct musculoskeletal characteristics in TS patients. Longer rhGH therapy in TS patients may have a positive effect on BMD in the L1-L4 region. Understanding the intricate relationships between these factors is important for optimizing clinical management strategies and improving the quality of life for TS patients.

6.
Biomedicines ; 11(6)2023 May 29.
Article in English | MEDLINE | ID: mdl-37371669

ABSTRACT

Osteoporosis is a disease characterised by a reduction in bone strength due to increased porosity and impaired mineralisation. In our study, we investigated whether muscle strength and mass exert a significant effect on bone mineral density in young adult women. We also tested whether sclerostin can be used as an indicator in the assessment of bone mineralisation. The study included 111 patients. All patients had their bone mineral density determined in the L1-L4 section of the lumbar spine and in the whole skeleton. The parameters of fat mass (FM), lean body mass (LBM) and visceral fat mass (VF) were also determined. Metabolic activity of osteocytes was assessed by measuring the serum sclerostin concentration. There was a statistically significant association of both hands' muscle strength with all parameters expressing bone mineralisation. A statistically significant relationship was also obtained between BMD L1-L4 and the body mass components (FM, LBM). Sclerostin levels in the study did not differ between groups with normal and reduced bone mineral density. Muscle strength assessment may be a potential exponent of reduced bone mineral density, also used clinically in young adult women. The utility of sclerostin in the clinical assessment of bone mineralisation has not been demonstrated.

7.
Nutrients ; 15(11)2023 May 26.
Article in English | MEDLINE | ID: mdl-37299445

ABSTRACT

Osteoporosis is characterized by impaired bone mineralization and microarchitecture. An important protective factor is a high peak bone mass (PBM), attained in the second and third decade of life. The aim of the study was to evaluate the effect of hormonal and metabolic parameters on bone mineralization in young adult female patients. A total of 111 participants qualified for the study. Bone mineral density of the lumbar spine (L1-L4) and whole skeleton was measured using dual-energy X-ray absorptiometry (DXA). Hormonal parameters were determined: the concentrations of androstendione, dihydroepiandrosterone sulphate, testosterone, sex hormone binding protein, 17-OH-progesterone, folliculotropic hormone, estradiol, thyrotropic hormone, free thyroxine and cortisol. Metabolic parameters were also examined. The study showed a statistically significant correlation between bone mineral density and estradiol concentration and a negative relationship between cortisol concentration and the bone mineral density (BMD) Z-score of the lumbar spine. Sclerostin measurements taken during this study were not related to bone mineral density. It has been shown that the concentration of the hormones tested, even within the reference range, may affect bone mineralization. We suggest observing the follow-up of the menstrual cycles, as well as analyzing the results of test patients in an annual examination system. However, each clinical case should be considered individually. The sclerostin test is currently not useful in the clinical evaluation of bone mineralization in young adult women.


Subject(s)
Calcification, Physiologic , Hydrocortisone , Humans , Female , Young Adult , Hydrocortisone/metabolism , Bone Density , Absorptiometry, Photon , Estradiol/pharmacology , Lumbar Vertebrae/metabolism
8.
Article in English | MEDLINE | ID: mdl-36767504

ABSTRACT

Swyer syndrome is a special form of DSD (disorders of sex development), so-called pure gonadal dysgenesis with a karyotype 46, XY and a female phenotype. One of the most important problems in patients with DSD is the risk of gonadal tumors. We present a case of a 26-year-old patient with Swyer syndrome. The patient had primary amenorrhea and no puberty characteristics. In ultrasound imaging in the vicinity of the uterus, there were two homogeneous structures. A genetic diagnosis was also performed, which showed karyotype 46, XY. The patient underwent a bilateral gonadectomy. Histopathological examination revealed the presence of dysgerminoma in both dysgenetic gonads. The follow-up of five years now did not show any changes suspected of invasion. We concluded that the primary amenorrhea, along with the absence of development of sexual characteristics, should prompt an expanded diagnosis for disorders of sex development. Gonadal dysgerminoma should be suspected even in the absence of tumor features on ultrasound and blood laboratory tests. Early prophylactic gonadectomy could protect patients from developing tumors in dysgenetic gonads.


Subject(s)
Dysgerminoma , Gonadal Dysgenesis, 46,XY , Ovarian Neoplasms , Humans , Female , Dysgerminoma/diagnosis , Dysgerminoma/surgery , Dysgerminoma/genetics , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/surgery , Ovarian Neoplasms/genetics , Amenorrhea/etiology , Contraceptive Agents , Delayed Diagnosis , Sexual Maturation , Gonadal Dysgenesis, 46,XY/diagnosis , Gonadal Dysgenesis, 46,XY/surgery , Gonadal Dysgenesis, 46,XY/genetics
9.
Front Surg ; 9: 869152, 2022.
Article in English | MEDLINE | ID: mdl-36303849

ABSTRACT

We present a case of a 12.5-year-old girl who has suffered from recurrent urinary tract infections for many years but has never undergone a detailed diagnostic process. Only as a teenager did she complain of acute pain in her lower abdomen and it turned out that her genital organs had not properly developed. She had an obstructive defect in the reproductive tract. When there was a significant amount of discharge collected in the lumen of the genital tract and the organs had distended, acute pain appeared, which allowed us to make the diagnosis. In the diagnostic process, transperineal ultrasonography turned out to be extremely helpful, allowing us to establish the type and thickness of the obstruction. The patient underwent excision of transverse vaginal septum, and postoperative silicon dilators were used to prevent the recurrence of the obstruction. There was no recurrence of urinary infection or complications during the 11 months of follow-up.

10.
Ginekol Pol ; 92(11): 753-759, 2021.
Article in English | MEDLINE | ID: mdl-33914322

ABSTRACT

OBJECTIVES: Available evidence implies that unfavorable changes in the distribution of adipose tissue resulting from hormonal imbalance associated with ovarian insufficiency might influence bone mineral density (BMD). The purpose of our study was to verify if volumes of visceral (VAT), female (FAT) and android (AAT) body fat as determined by densitometry determined influence BMD in women with functional menstrual disorders, and if these correlates some endocrine factors. MATERIAL AND METHODS: We examined 293 women (mean age 26.7 ± 4.4 years) who have had psychogenic type of functional hypothalamic secondary amenorrhea for at least three months (mean 5.82 ± 0.94). A variety of hormonal tests, determination of BMD and both distribution and volume of adipose tissue were performed. RESULTS: Volume of adipose tissue in all analyzed body regions indicated a positive correlation with BMD in lumbar spine (VAT: R = 0.277, FAT: R = 0.345, AAT: R = 0.336) and entire skeleton (VAT: R = 0.453, FAT: R = 0.527, AAT: R = 0.529). BMD in both the lumbar spine and entire skeleton had positive correlation with body mass index (R = 0.380 and R = 0.599, respectively) and free androgen index values (R = 0.150 and R = 0.279). It showed a negative correlation with sex hormone-binding globulin (R = -0.191 and R = -0.326). We did not find a parameter that could be an independent predictor of BMD. CONCLUSIONS: Distribution of body fat is only one of numerous determinants of BMD in women with functional menstrual disorders and should not be treated as the only predictor for bone mass deficiency. Determination of adipose tissue distribution in these patients has probably minor clinical impact.


Subject(s)
Amenorrhea , Bone Density , Absorptiometry, Photon , Adipose Tissue/diagnostic imaging , Adult , Amenorrhea/etiology , Body Fat Distribution , Body Mass Index , Female , Humans , Young Adult
11.
J Matern Fetal Neonatal Med ; 33(14): 2313-2319, 2020 Jul.
Article in English | MEDLINE | ID: mdl-30501553

ABSTRACT

Introduction: Endocan plays a role in the development of vascular tissue in health and disease and is an indicator of endothelial cells activation and angiogenesis.Objective: The aim of this study was to investigate the relationship between endocan serum levels and various types of hypertensive disorders in pregnant women.Patients and methods: We created three study groups (preeclampsia [n = 60], chronic hypertension [n = 39], gestational hypertension [n = 58]) and the control group consisting of 59 healthy pregnant women. The endocan serum concentration was assessed using commercially available ELISA kit.Results: There were no statistically significant differences in endocan serum levels (pg/mL) in each study group compared to controls. The multiple regression did not reveal significant differences between endocan levels in each study group after adjustment for prepregnancy BMI. We did not find any significant correlations between the endocan serum level and patients' age, gestational age (GA) at sample collection, prepregnancy BMI, systolic blood pressure, diastolic blood pressure, and 24-hour urinary protein excretion in each analyzed group. Moreover, in the preeclamptic participants, we did not observe a significant relationship between the endocan concentration and the features indicating the severity of the disease other than elevated blood pressure. There were no differences in endocan serum level in preeclampsia subgroups: early-onset versus late-onset and mild versus severe preeclampsia.Conclusions: Endocan is not involved in the pathogenesis of hypertensive disorders in pregnant women and could not be regarded as a marker of endothelial dysfunction in these cases.


Subject(s)
Neoplasm Proteins/blood , Pre-Eclampsia/blood , Proteoglycans/blood , Adult , Case-Control Studies , Endothelial Cells/metabolism , Female , Humans , Pregnancy
12.
Sci Rep ; 9(1): 17890, 2019 11 29.
Article in English | MEDLINE | ID: mdl-31784640

ABSTRACT

Small for gestational age (SGA) newborns are often born from hypertensive pregnancies. This study aimed to compare the systemic metabolism of cortisol (F) in pregnancies with SGA and appropriate for gestational age (AGA) infants, considering both the normotensive (NT) and hypertensive patients. We hypothesized that the disturbances in systemic metabolism of F in pre-eclampsia (PE) might be attributed not to hypertension only, but to SGA. The study included 117 pregnants in the third trimester, divided into groups: NT pregnancy and SGA neonate (SGA-NT); NT pregnancy and AGA neonate (AGA-NT; controls), and respective groups with PE: SGA-PE and AGA-PE. We assessed the glucocorticoid balance with the function of enzymes involved in systemic metabolism of F: 11ß-hydroxysteroid dehydrogenase type 1 and 2 (11ß-HSD1 and 11ß-HSD2), 5α- and 5ß-reductase. The enzymes' functions were estimated with the levels of F, cortisone (E), and their metabolites in plasma or urine, which we measured with HPLC-FLD and HPLC-MS/MS. The plasma F/E and urinary free F/E (UFF/UFE) ratios correlated significantly only in patients with the normal function of 5α- and 5ß-reductase. The increased function of 11ß-HSD2 was noted in all pre-eclamptic pregnancies. Increased function of 5α- and 5ß-reductase was specific only for SGA-PE pregnancies, and the function of 5α-reductase was dependent on fetal sex. The SGA-NT pregnancies with male fetuses trended towards the higher function of renal 11ß-HSD2 and 5ß-reductase; SGA-NT pregnancies with female fetuses lacked any systemic glucocorticoid imbalance. In conclusion, systemic metabolism of F is the most intensive in pre-eclamptic pregnancies complicated by SGA with female fetuses. Our study supports the hypothesis about the different origins of PE and idiopathic intrauterine growth restriction and suggests the sex-specific mechanisms responsible for fetal growth restriction.


Subject(s)
Hydrocortisone/metabolism , Infant, Small for Gestational Age , Pre-Eclampsia/pathology , 11-beta-Hydroxysteroid Dehydrogenase Type 1/metabolism , 11-beta-Hydroxysteroid Dehydrogenase Type 2/metabolism , Adult , Chromatography, High Pressure Liquid , Female , Glucocorticoids/metabolism , Humans , Hydrocortisone/blood , Hydrocortisone/urine , Infant, Newborn , Pre-Eclampsia/metabolism , Pregnancy , Pregnancy Trimester, Third , Tandem Mass Spectrometry
13.
Ann Clin Biochem ; 56(1): 82-89, 2019 01.
Article in English | MEDLINE | ID: mdl-29848040

ABSTRACT

BACKGROUND: The analysis of steroids in biological matrices is challenging. One can apply immunoassay as well as gas and liquid chromatography with various types of detection, depending on the available equipment and the experience of the analyst. The question is how the methods are interchangeable between themselves. Doubts were reported having compared immunoassays and chromatography-mass spectrometry, but there are scarce data on chromatographic methods with detection types other than mass spectrometry. METHODS: Here, we present the detailed comparison of two liquid chromatographic methods for the determination of free urinary cortisol and cortisone: one with fluorescence detection (high-performance liquid chromatography [HPLC-FLD]) and the other with tandem mass spectrometry (HPLC-MS/MS). The comparison was made with 199 human urine samples. The data analysis included Passing-Bablok and Deming regression, Bland-Altman test, Wilcoxon test, mountain plot and Lin's concordance correlation coefficient. RESULTS: The validation data indicated that both methods met the requirements of the European Medicines Agency. However, the statistical analysis revealed the systematic bias between the two assays. The Passing-Bablok and the Deming tests showed that the HPLC-FLD method overestimated results for cortisol and underestimated measurements for cortisone. The Bland-Altman analysis estimated the mean differences between the methods: 18.8 nmol/L for cortisol and -16.9 nmol/L for cortisone measurement. CONCLUSIONS: Both methods' results led to the same conclusion in observational studies, but the techniques are not interchangeable. The literature data, the observations from the clinical setting and our experience clearly indicate that the future of steroid measurements will belong to chromatography coupled with mass spectrometry.


Subject(s)
Chromatography, High Pressure Liquid/methods , Cortisone/urine , Hydrocortisone/urine , Tandem Mass Spectrometry/methods , Female , Humans , Pregnancy , Spectrometry, Fluorescence/methods
14.
Reprod Sci ; 26(3): 370-376, 2019 03.
Article in English | MEDLINE | ID: mdl-29742984

ABSTRACT

OBJECTIVES: Endocan plays a role in the development of vascular tissue in health and disease and is an indicator of endothelial cells activation and angiogenesis. Therefore, this study aimed to investigate the relationship between maternal endocan serum level and intrauterine growth restriction (IUGR) as well as ultrasound Doppler flow measurements indicating placental insufficiency. METHODS: This study included a group of women with IUGR (n = 37) and a group of healthy pregnant women (controls, n = 37). The endocan serum concentrations were assessed using commercially available enzyme-linked immunosorbent assay kit. Every woman underwent an ultrasound examination with Doppler flow measurements of the uterine arteries, umbilical vessels, and fetal middle cerebral artery. We used the cerebroplacental ratio (CPR) to determine placental insufficiency. RESULTS: We found significant differences in median (interquartile) endocan serum level (pg/mL) between study and control groups (464 [374-532] vs 339 [189-496], respectively; P < .001). The endocan serum level correlated neither with umbilical cord blood gases nor with Apgar score. Ultrasound Doppler findings revealed significant differences in middle cerebral artery pulsatility index (PI), umbilical artery PI, CPR, as well as mean uterine arteries PI between IUGR group and controls. In the study group, we found significant correlations between the serum endocan and CPR ( R = 0.56, P < .001) as well as between serum endocan and mean uterine arteries PI ( R = 0.46, P = .006). CONCLUSION: Endocan is likely involved in the pathogenesis of IUGR in pregnant women and possibly is a useful marker of endothelial dysfunction in these cases.


Subject(s)
Fetal Growth Retardation/blood , Neoplasm Proteins/blood , Proteoglycans/blood , Adult , Female , Fetal Growth Retardation/diagnostic imaging , Humans , Placental Insufficiency/diagnostic imaging , Pregnancy , Ultrasonography, Doppler
15.
Endocrine ; 61(1): 125-133, 2018 07.
Article in English | MEDLINE | ID: mdl-29611097

ABSTRACT

PURPOSE: The diminished function of 11ß-hydroxysteroid dehydrogenase 2 (11ß-HSD2) was found in placentae from preeclamptic pregnancies. Here, we examine the overall maternal glucocorticoid balance in pregnancy-related hypertension. We aim to answer the question if the functions of primary enzymes involved in cortisol metabolism: 11ß-HSD1 and 11ß-HSD2 and 5-reductases (both 5α- and 5ß) are altered in the course of hypertensive pregnancy. METHODS: We determined plasma and urinary cortisol and cortisone as well as their urinary tetrahydro- and allo-tetrahydrometabolites, both in free and conjugated forms in samples obtained from 181 Polish women in the third trimester of pregnancy. We compared steroid profiles in women with preeclampsia (PE), gestational hypertension (GH), chronic hypertension (CH) and in normotensives (controls). RESULTS: We found significant differences in glucocorticoid balance in pregnancy-related hypertension. Plasma cortisol to cortisone was significantly lower in PE than in controls (3.00 vs. 4.79; p < 0.001). Increased function of renal 11ß-HSD2 in PE and GH was manifested by significantly lower urinary free cortisol to cortisone ratio (0.169 and 0.206 vs. 0.277 in controls; p < 0.005). Markedly enhanced metabolism of cortisol was observed in pregnancy-related hypertension, with no significant alterations in CH, and the changes were more clearly expressed in PE than in GH. CONCLUSIONS: The glucocorticoid balance in PE and GH is shifted towards decreasing cortisol concentration either due to intensified conversion to cortisone or enhanced production of tetrahydro and allo-tetrahydrometabolites.


Subject(s)
Hydrocortisone/metabolism , Hypertension, Pregnancy-Induced/metabolism , 11-beta-Hydroxysteroid Dehydrogenase Type 1/blood , 11-beta-Hydroxysteroid Dehydrogenase Type 2/blood , Adult , Cortisone/metabolism , Female , Humans , Hypertension/blood , Kidney/enzymology , Limit of Detection , Pre-Eclampsia/blood , Pregnancy , Young Adult
16.
Reprod Sci ; 24(11): 1520-1531, 2017 11.
Article in English | MEDLINE | ID: mdl-29017438

ABSTRACT

Hypertensive Disorders of Pregnancy (HDsP) remain leading causes of maternal and perinatal morbidity and mortality. Growing evidence suggests the involvement of epigenetic factors, such as gene-specific and global DNA methylation changes, both in the etiology and as an effect of HDsP. In this study, we investigated the potential association between placental DNA methylation status in selected CpGs of HSD11B2 cortisol level controlling gene, RUNX3 tumor suppressor gene, and long interspersed nucleotide element-1 (LINE-1) repetitive elements and HDsP-preeclampsia (PE), gestational hypertension (GH), and chronic hypertension (CH). Methylation-specific polymerase chain reaction (MSP) and pyrosequencing (PSQ) were used to analyze placental DNA methylation. Plasma and urine cortisol and cortisone levels were measured using high performance liquid chromatography with fluorescence detection (HPLC-FLD), whereas serum progesterone level was determined by electrochemiluminescence immunoassay. The mean percentage of HSD11B2, RUNX3, and LINE-1 methylation was not altered in the placentas of patients with HDsP, as compared to the controls. However, among patients from PE, GH, and CH groups, several significant correlations were observed between the methylation status of HSD11B2, RUNX3, or LINE-1 and children's birth weight, gestational age at delivery, mother's age, and body mass index as well as hormones levels. These results indicate lack of association between methylation status of HSD11B2, RUNX3, or LINE-1 repetitive elements and HDsP. However, association of these parameters with some clinical variables may suggest the role of placental DNA methylation in fetal development and should be further explored.


Subject(s)
11-beta-Hydroxysteroid Dehydrogenase Type 2/metabolism , Core Binding Factor Alpha 3 Subunit/metabolism , DNA Methylation/physiology , Hypertension/metabolism , Placenta/metabolism , Proteins/metabolism , Adolescent , Adult , Biomarkers/metabolism , Female , Humans , Hypertension/pathology , Hypertension, Pregnancy-Induced/metabolism , Hypertension, Pregnancy-Induced/pathology , Placenta/pathology , Pregnancy , Young Adult
17.
J Matern Fetal Neonatal Med ; 30(11): 1360-1365, 2017 Jun.
Article in English | MEDLINE | ID: mdl-27686600

ABSTRACT

INTRODUCTION: One of the hypotheses concerning the etiology of gestational hypertension (GH) and pre-eclampsia (PE) assumes that they develop as a result of placenta malfunctioning at the early stage of pregnancy. Placental dysfunction is also associated with the decreased activity of 11ß-hydroxysteroid dehydrogenase 2 (11ß-HSD2), which in normal pregnancy protects the fetus from the excess of maternal cortisol. OBJECTIVE: The aim of the study was to analyze the sequence of HSD11B2, a gene that encodes 11ß-HSD2, searching for mutations and haplotypes associated with the increased risk of GH or PE. Those may serve as potential genetic markers of GH and PE. METHODS: The study was performed in case-control structure and included pregnant women (in third trimester) diagnosed with: GH, PE or being normotensive (control group). The research comprised DNA sequencing of HSD11B2, followed by restriction analysis (PCR-RFLP). The linkage disequilibrium analysis and haplotype-based case-control analysis were performed. RESULTS: Six sequence variations were observed. Four mutations were indicated in the coding region of HSD11B2 and the other two in 3'-UTR. Two SNPs: c.468C > A and c.534G > A were found to be in total disequilibrium. CONCLUSIONS: High variability in HSD11B2 sequence was indicated in the study population, but the relevance of observed SNPs to GH or PE development was not confirmed.


Subject(s)
11-beta-Hydroxysteroid Dehydrogenase Type 2/genetics , Hypertension, Pregnancy-Induced/genetics , Mutation , Placenta/metabolism , Pre-Eclampsia/genetics , Adult , Case-Control Studies , Female , Genetic Markers , Humans , Odds Ratio , Pregnancy , Sequence Analysis, DNA , Young Adult
18.
PLoS One ; 10(12): e0144343, 2015.
Article in English | MEDLINE | ID: mdl-26637176

ABSTRACT

OBJECTIVES: The aim of the study was to analyze the plasma and urinary cortisol (F) and cortisone (E) levels in normotensive and hypertensive pregnant women. The parameters known to reflect the function of 11ß-hydroxysteroid dehydrogenase type 2 (11ß-HSD2) were calculated to verify the changes in glucocorticoid balance over the course of gestational hypertension (GH) and pre-eclampsia (PE). MATERIALS AND METHODS: This retrospective case-control study included women in the third trimester of pregnancy, diagnosed with: GH (n = 29), PE (n = 26), or chronic hypertension (CH; n = 22). Normotensive women in their third trimester of pregnancy were also included (controls; n = 43). The plasma and urinary F and E levels were measured with the HPLC-FLD method. The 11ß-HSD2 function was estimated by calculating the following ratios: plasma F/E and urinary free F to urinary free E (UFF/UFE). A statistical analysis was performed based on case-control structure. RESULTS AND DISCUSSION: PE was characterized by lower plasma F levels (639.0 nmol/L), UFF/Cr levels (3.80 µg/mmol) and F/E ratio (3.46) compared with that of the controls (811.7 nmol/L, 6.28 µg/mmol and 5.19, respectively) with marked abnormalities observed in the changes of F/E and UFF/UFE ratios with advancing gestation. GH patients showed significant disparities in the urinary steroid profile with lower UFF/UFE ratio (0.330 vs. 0.401) compared with the normotensive controls and abnormal changes in the UFF/UFE throughout pregnancy. The observed tendency towards lower F/E and UFF/UFE ratios in PE and GH patients may reflect more intensive F metabolism over the course of those disorders. In the normal pregnancy group, the plasma F/E and UFF/UFE ratios tended to present inverse correlations with advancing gestation. This trend was much less marked in PE and GH patients, suggesting that the abnormalities in 11ß-HSD2 functions progressed with the GA. The birth weights of neonates born from pre-eclamptic pregnancies were lower than those from uncomplicated pregnancies, although only when the babies were born prematurely. Children born at term to normotensive mothers or mothers suffering from PE had comparable birth weights.


Subject(s)
11-beta-Hydroxysteroid Dehydrogenase Type 2/metabolism , Cortisone , Glucocorticoids , Hydrocortisone , Pre-Eclampsia , Adolescent , Adult , Cortisone/blood , Cortisone/urine , Female , Glucocorticoids/blood , Glucocorticoids/urine , Humans , Hydrocortisone/blood , Hydrocortisone/urine , Pre-Eclampsia/blood , Pre-Eclampsia/urine , Pregnancy , Retrospective Studies
19.
Przegl Lek ; 72(10): 563-6, 2015.
Article in Polish | MEDLINE | ID: mdl-26946568

ABSTRACT

The aim of the study was to evaluate the influence of active and passive maternal tobacco smoking on the parameters of blood flow in the uterine arteries in the third trimester. of pregnancy. The study was performed among 96 pregnant women in a single full-term pregnancy in the third trimester of pregnancy. A questionnaire assessing the status of the concentration of nicotine and nicotine metaboliteotinine in the serum of pregnant. The plasma was extracted technique of liquid-liquid, and then performed laboratory assays using high performance liquid chromatography with spectrophotometric detection using norepinephrine as an internal standard. Based on the concentration of cotinine and interview patients were assigned to three groups: Group 1--patients smoking cigarettes during the entire pregnancy (23), group 2--patients exposed to environmental tobacco smoking (30) and a control group 3--nonsmokers and patients unexposed to passive smoking (43). In the third trimester of pregnancy blood flow in the uterine arteries was performed using "B-mode" technique with function of spectral Doppler. We analized the pulsatility index and resistance index in both uterine arteries, the presence of the indent diastolic "notch" and the scale of the uterine arteries. There were no statistically significant differences with regards to pulsatility index and index of resistance in blood flow in the uterine arteries in different groups of patients. The presence of the indent diastolic "notch" was significantly more frequent among active smokers, compared to women passively exposed to tobacco smoke and non-smoking women (39.1% vs. 20% vs. 4.6%; p = 0.012). The values in the scale of uterine arteries showed no significant difference between groups. Both active and passive smoking had no significant effect on the blood flow in uterine artery in pregnant women in the third trimester of pregnancy.


Subject(s)
Hemodynamics , Pregnancy Trimester, Third/drug effects , Smoking/adverse effects , Tobacco Smoke Pollution/adverse effects , Uterine Artery/drug effects , Adult , Chromatography, High Pressure Liquid , Cotinine/blood , Female , Humans , Pregnancy , Pregnancy Trimester, Third/physiology , Surveys and Questionnaires , Uterine Artery/physiology , Young Adult
20.
Przegl Lek ; 72(3): 131-5, 2015.
Article in Polish | MEDLINE | ID: mdl-26731869

ABSTRACT

In prenatal life the fetus can be exposed to more incentires which affect the mother. In case of both active and passive smoking by pregnant women many pernicious substances contained in tobacco smoke can influence the foetus. The components of tobacco smoke can contribute to various antenatal complications. The aim of present work was to assess if the data given by the patient in anonymous questionnaire go along with the real exposure to components of smoke assessed on the basis of concentration of nicotine metabolite- cotinine in mother's serum and next to assess the risk of development of gestational hypertension and hypotrophy. The biological material was extracted with means of liquid-liquid technique and next we performed laboratory determinations with means of liquid chro- matography with sectrophotometric detection, in which norephedrine is used as inner sample. The study was carried out on 106 women in perinatal period who give birth from single, full term pregnancy. On the basis of questionnaire data considering the concentration of cotinine, the patients were divided into three groups: I group--active smokers (n = 27), II group--passive smokers (n = 32), III group--not exposed to tobacco smoke (n = 41). The average concentration of cotinine in blood serum in the first group was 129.6 ng/ml, second group--5.1 ng/ ml, but in all patients from the control group the concentration of cotinine was below the detection level. Gestational hypertension was diagnosed in 17 women (16%) and hypotrophy of the foetus was diagnosed in 15 patients (14%). Tobacco smoking didn't influence the development of gestational hypertension and hypotrophy showered it is more often observed in women exposed to components of tobacco smoke during pregnancy.


Subject(s)
Hypertension, Pregnancy-Induced/epidemiology , Infant, Low Birth Weight , Pregnancy Complications/epidemiology , Prenatal Exposure Delayed Effects/epidemiology , Smoking/epidemiology , Tobacco Smoke Pollution/adverse effects , Tobacco Smoke Pollution/statistics & numerical data , Adult , Causality , Comorbidity , Cotinine/blood , Environmental Monitoring/statistics & numerical data , Female , Humans , Hypertension, Pregnancy-Induced/etiology , Infant, Newborn , Pregnancy , Pregnancy Complications/blood , Pregnancy Complications/etiology , Prenatal Exposure Delayed Effects/blood , Smoking/adverse effects , Smoking/blood , Surveys and Questionnaires , Young Adult
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