Are Young People with Turner Syndrome Who Have Undergone Treatment with Growth and Sex Hormones at Higher Risk of Metabolic Syndrome and Its Complications?

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.

Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.

Cornelia de Lange syndrome (CdLS) is a complex genetic disorder with distinct facial features, growth limitations, and limb anomalies. Its broad clinical spectrum presents significant challenges in pediatric diagnosis and management. Due to cohesin complex mutations, the disorder's variable presentation requires extensive research to refine care and improve outcomes. This article provides a case series review of pediatric CdLS patients alongside a comprehensive literature review, exploring clinical variability and the relationship between genotypic changes and phenotypic outcomes. It also discusses the evolution of diagnostic and therapeutic techniques, emphasizing innovations in genetic testing, including detecting mosaicism and novel genetic variations. The aim is to synthesize case studies with current research to advance our understanding of CdLS and the effectiveness of management strategies in pediatric healthcare. This work highlights the need for an integrated, evidence-based approach to diagnosis and treatment. It aims to fill existing research gaps and advocate for holistic care protocols and tailored treatment plans for CdLS patients, ultimately improving their quality of life.

The Interplay between Muscular Grip Strength and Bone Mineral Density with Consideration of Metabolic and Endocrine Parameters in Individuals with Turner Syndrome.

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.

Do women play sports while pregnant?

OBJECTIVES: The aim of the study was to evaluate the relationship between sociodemographic factors, perinatal data and physical activity in pregnancy, to determine the sources of information about physical health that pregnant women got from and preferred types of sport activities before and during gestation. MATERIAL AND METHODS: The study included 247 pregnant women who fulfilled a questionnaire. RESULTS: 73.7% of respondents declared doing sport in pregnancy. The preferred types of pre-pregnancy activities were walking, riding a bicycle and swimming. It did not change during pregnancy, but more women declared swimming than cycling. In general, the females chose each type of activity less often in pregnancy than before, except pilates, of which that frequency did not change. The respondents declared that they ran, swam, did aerobics, roller skating and rode a bike significantly less often in pregnancy in comparison to the pregestational period. The sociodemographic factors that influence the physical activity were age, education and net income. The incidence of cesarean section was significantly higher among physically inactive women comparing to those who declared physical activity during pregnancy. Fifty-five point one percent of survey respondents declared barriers precluding sport activities. The most of women got the information about physical activity from the Internet, books or magazines and doctor in charge of the pregnancy. CONCLUSIONS: Pregnancy has an impact on the type of chosen physical activity. The sport activities are dependent on age, education and salary. The active women have 30% lower risk for cesarean section in comparison to inactive respondents. Finally, a great group of women gets the information about proper physical activities during pregnancy from unreliable sources.

Does predelivery body mass index really matter in pregnancy?

OBJECTIVES: The aim of the study was to compare the perinatal outcome between the normal weight, overweight and obese pregnant women who delivered in the third-level center of reference. Moreover, the objective was to analyze the usefulness of predelivery body mass index (BMI) in prediction of preterm delivery, prolonged second stage of labor, instrumental vaginal delivery, cesarean section, fetal macrosomia, dystocia and newborn acidosis. MATERIAL AND METHODS: The retrospective study included 2104 patients, divided into three groups, with BMI between 18.5 and 24.9; 25.0 and 29.9; higher than or equal 30.0 kg/m2, respectively. The data were assessed from the medical history. RESULTS: The predelivery obesity increases the risk of cesarean section (aOR 1.63), macrosomia (aOR 8.89) and dystocia (aOR 3.40) in comparison to normal weight women. Moreover, the obese females had three times greater risk of having a macrosomic child (aOR 3.57) and 1.5 times greater risk of cesarean section (aOR 1.52) than overweight group. The role of predelivery BMI in the prediction of cesarean delivery (AUC 0.550; sensitivity 0.39; specificity 0.71, p < 0.001, cut-off value 28.7 kg/m2), macrosomia (AUC 0.714; sensitivity 0.66; specificity 0.70; p < 0.001, cut-off value 29.0 kg/m2) and dystocia (AUC 0.658; sensitivity 0.77; specificity 0.53, p < 0.001, cut-off value 27.0 kg/m2) was significant. CONCLUSIONS: The predelivery obesity increases the risk of cesarean section, macrosomia and shoulder dystocia and is a useful parameter in the prediction of perinatal outcomes. The establishing cut-off value for predelivery BMI was the lowest in prediction of shoulder dystocia.

Preeclampsia with Intrauterine Growth Restriction Generates Morphological Changes in Endothelial Cells Associated with Mitochondrial Swelling-An In Vitro Study.

Pregnancy complicated by preeclampsia (PE) and intrauterine growth restriction (IUGR) promotes endothelial cell (EC) dysfunction. Our in vitro study aimed to evaluate the endothelial cell morphology after acute and chronic exposition to medium supplemented with serum taken from healthy pregnant women and women with IUGR and IUGR with PE. In the same condition, ECs viability, proliferation, reactive oxygen species (ROS) production, and serum concentration of vascular endothelial growth factor (VEGF) were also measured. Pregnant women with IUGR and IUGR with PE-delivered babies with reduced body mass and were characterized in elevated blood pressure, urine protein loss, and reduced level of VEGF. The 24 hours of exposition did not exert any morphological changes in ECs, except the reduction in cell viability, but prolonged exposition resulted in significant morphological changes concerning mostly the swelling of mitochondria with accompanying ROS production, cell autophagy, reduced cell viability, and proliferation only in complicated pregnancies. In conclusion, the sera taken from women with IUGR and IUGR with PE show a detrimental effect on ECs, reducing their viability, proliferation, and generating oxidative stress due to dysfunctional mitochondria. This multidirectional effect might have an adverse impact on the cardiovascular system in women with IUGR and PE.

Uterine arteriovenous malformation - diagnosis and management.

Uterine arteriovenous malformations are uncommon but potentially life-threatening conditions. They can be congenital or acquired and should be suspected in cases of severe or persistent uterine bleeding. In recent years, there has been an in-creasing number of reports of acquired vascular lesions of the uterus following pregnancy, abortion, caesarean delivery and curettage. This paper presents the review of the literature considered epidemiology, pathophysiology, diagnostic methods and treatment options. Unexplained uterine bleeding should be always an indication for colour Doppler ultrasonography and the presence of arteriovenous malformation should be always excluded.

Acquired uterine arteriovenous malformation - a diagnostic dilemma.

Uterine arteriovenous malformations are uncommon but potentially life-threatening condition. They can be congenital or acquired and should be suspected in cases of severe or persistent uterine bleeding. In recent years, there has been an increasing number of reports of acquired vascular lesions of the uterus following pregnancy, abortion, caesarean delivery and curettage. This paper presents the case of unexplained vaginal bleeding with subsequent suspicion and diagnosis of uterine arteriovenous malformation. Unexplained uterine bleeding should be always an indication for colour Doppler ultrasonography and the presence of AVM should be always excluded.

[Placenta percreta--a severe obstetric complication despite correct diagnosis--a case report]. / Lozysko przerosniete--powazne powiklanie poloznicze pomimo prawidlowej diagnozy--opis przypadku.

This paper presents a case of a pregnant woman with a history of two cesarean sections. The patient was admitted to the hospital because of vaginal bleeding. The ultrasound revealed a placenta covering the internal os. The placenta was characterized by heterogeneous echogenicity with visible irregular hypoechogenic areas and blurred border between the placenta and the cervix. Rich vascularity was observed on the border of the placenta, urethra and the urinary bladder. Cystoscopy showed severe congestion around the urethra. On the back wall of the bladder a slightly increased vascularity was seen, which did not allow to confirm or exclude placental ingrowth in the urinary bladder. At 38 weeks, the patient was scheduled for an elective cesarean section. A classic perpendicular incision and leaving the placenta in the uterine cavity were proposed. After opening the abdomen, a strong vascularization in the region of lower part of the uterus and the urinary bladder was seen. Uterine incision in the fundus and the posterior wall was performed. A female fetus (weight: 2950g, Apgar: 10,10) was born. Then, the umbilical cord was ligated with non-absorbable suture and inserted back into the uterus. However, due to the presence of abundant and persistent vaginal bleeding during the next few minutes, conversion to obstetric hysterectomy was required. During relaparotomy fragments of the placenta appeared on the right side after sliding the urinary bladder. The bladder and the left ureter were damaged during surgery. The urinary bladder was sewn after removal of the uterus. Next, the urologist anastomosed end-to-end the left ureter on the pigtail catheter In the third hour of operation, cardiac arrest was caused by ventricular fibrillation. Immediate resuscitation with defibrillation allowed to restore normal function of the cardiovascular system. Total blood loss during the operation was 3000-4000 ml. During surgery 10 units of packed RBCs, 7 units of fresh frozen plasma, and 4 units of cryoprecipitate were transfused. The patient received antibiotics and anticoagulation therapy. Polyuria was diagnosed in the following days of puerperium, accompanied by electrolyte disturbances in serum and urine. The patient was treated with vasopressin and the electrolyte disturbances were corrected. On day 10 postpartum, the urinary catheter was removed, and clear significant improvement and stabilization of renal function and patient health were obtained. The patient was discharged from the hospital on day 19 of the puerperium. In summary it is clear that the steadily increasing rate of cesarean deliveries may result in the future in an increased number of abnormal placentation cases. Abnormal placentation is one of the most important risk factors of severe obstetric complications, including perinatal massive hemorrhage, which can lead to abnormal organ perfusion with cardiac arrest. Therefore, prenatal diagnosis and identification of abnormal placentation are vital in order to plan adequately the date, place, and mode of delivery as well as to ensure the availability of highly qualified specialists in the field of obstetrics and anesthesia, and organize sufficient amount of blood products and blood substitutes.

[Is there a relationship between pregnancy induced hypertension and obstructive sleep apnea? Case report]. / Czy istnieje zwiazek miedzy nadcisnieniem indukowanym ciaza a obturacyjnym bezdechem sennym? Opis przypadku.

The paper examines the case of a pregnant woman in a twin pregnancy complicated by pre-eclampsia and sleep disordered breathing. The patient was admitted to hospital with high blood pressure, proteinuria and increasing oedema. Laboratory tests revealed proteinuria and reduced total protein concentration in serum. The patient was diagnosed with mild pre-eclampsia. Due to the observed severe daytime sleepiness of the patient, loud snoring and pauses in breathing during sleep, polysomnography was performed. The test revealed a number of episodes of obstructive apnea and hypopnea. The AHI (apnea-hypopnea index) value was 82.1. A number of episodes of desaturation were observed. The lowest saturation had a value of 82%. When the patient was diagnosed with severe obstructive sleep apnea, treatment with CPAP (continuous positive airway pressure) was introduced. The use of CPAP allowed a reduction of the AHI to 1.2, and the blood pressure value normalised. The patient used CPAP between the 33rd and 35th weeks of gestation. At the 35th week of gestation, caesarean section was performed due to life-threatening symptoms of the first foetus in the CTG-recording. Two male infants were delivered in good condition. During the postpartum period, the patient discontinued the use of CPAP. Following this, an increase in AHI to 45.3 and an increase in blood pressure to a maximum of 180/100mmHg were observed. The patient was discharged from hospital in good general condition on the 7th day postpartum with recommendation for further diagnostic and therapy. The conclusion that may be drawn from the case is that sleep disorders adversely affect the health of the mother and the foetus. Also, the mood and quality of life of the pregnant woman deteriorate. It has been proven that there are many relationships between sleep and health. Sleep disorders and disorders of breathing during sleep contribute to the development of various diseases or they degrade the overall phenomena. A disease, on the other hand, additionally negatively affects the quality of sleep. Therefore, it is essential to treat not only the primary disease, but also the accompanying sleep disorders.

[Symptomatology of carpal tunnel syndrome during pregnancy and puerperium]. / Objawy ze polu kanalu nadgarstka w ciazy i pologu.

OBJECTIVES: Epidemiology of the carpal tunnel syndrome (CTS) during pregnancy remains to be fully elucidated. The purpose of the following study is to determine occurrence of that complication in a population of pregnant women. So far the literature in Polish lacks information that might enable adequate diagnosis and proper therapy. MATERIAL AND METHODS: The study included 301 women who delivered at term (between 37 and 41 weeks of pregnancy) at the Gynecological and Obstetrical University Hospital in Poznan. An original questionnaire about CTS symptoms was prepared for the purpose of the study The tool included questions about general health, current and previous pregnancies, CTS symptoms, as well as the Boston Carpal Tunnel Questionnaire (BCTQ), modified for the purpose of the study. The original BCTQ includes questions about symptoms frequency during the last 2 weeks, while in our modified BCTQ we asked about symptoms during the whole pregnancy The respondents filled in the questionnaire with the help of a physician. A part of the research group underwent Phalen sign evaluation. RESULTS: Ninety-eight patients (32.6%) reported occurrence of at least one CTS symptom during pregnancy and 22 patients (22.4%) had similar symptoms in previous pregnancies. Only 3 patients had received any form of therapy The number of patients with CTS symptoms who reported extremities edema was significantly higher than in the group without CTS symptoms (26.3% vs. 6.1%; p < 0.05). The frequency of occurrence of diabetes and pregnancy induced hypertension was similar in both groups. The results of the first part of the modified BCTQ (symptom severity) were significantly higher in the CTS group as compared to non-CTS group (2.1 +/- 0.8 vs. 1.0 +/- 0.1; p < 0.05). The results of the second part of the modified BCTQ (impairment of daily life activities) were similar (1.7 +/- 0.8 vs. 1.0 +/- 0.1; p < 0.05). Out of 74 patients with CTS symptoms who underwent Phalen sign examination, 50% had positive Phalen sign. Patients with positive Phalen sign had significantly higher scores for both parts of the modified BCTQ. CONCLUSIONS: CTS symptoms are quite common during pregnancy (32% in the study group). However symptom intensity remains rather moderate. Some of the patients had those symptoms during previous pregnancies. Although the frequency of CTS symptoms is quite high in the population of pregnant women, only few have any form of treatment. Early detection of CTS symptoms in pregnant women is very important, because it allows introduction of conservative treatment, which is successful in most cases.

Conservative management of placenta previa complicated by abnormal placentation.

OBJECTIVE: Abnormal implantation of placenta previa is life-threatening condition. The purpose of this study was to evaluate the impact of the conservative management of pregnancies with such complication on maternal morbidity rate and the chance for uterine preservation (fertility). METHODS: Eleven patients with abnormal implantation of placenta previa were analyzed prospectively. This complication was diagnosed antenatally by two-dimensional ultrasound and color flow Doppler. The following outcomes were analyzed: need for blood transfusion, admission and duration of stay in intensive care unit, infections, coagulopathies, time between cesarean section and delivery of placenta, hysterectomy and preservation of uterus. RESULTS: Among the 20 085 women who had a singleton gestation, 11 (0.054%) were identified with placenta previa with abnormal placentation. In five patients (group A), hysterectomy was performed because of hemorrhage or placenta ablation. In six patients (group B), conservative management succeeded and placenta were preserved. In group A, placenta were delivered earlier (2 d-8 weeks) in comparison with group B (6-15 weeks). Estimated blood loss during the delayed delivery of placenta was higher in the group with hysterectomy (respectively, 450-1600 and 300-500 ml). CONCLUSIONS: Conservative management of placenta previa with abnormal implantation decreases the risk of severe hemorrhage at the time of delivery and can preserve fertility.

Nontrophoblastic placental tumors.

The aim of the study was to investigate potential influence of placental tumors on fetal outcome. The study comprised 10 cases of placental tumors. The analysis included the sonographic assessment of the tumor, signs of fetal anemia, as well as signs of hemodynamic disturbances or heart failure, and intrauterine treatment. The fetal hemodynamic was examined on the basis of Doppler blood flow in the umbilical artery and vein, middle cerebral artery, and ductus venous. The evaluation of fetal heart included the measurement of heart size, blood flow through cardiac valves and the assessment of fetal heart function based on cardiovascular score. The fetal outcome was also assessed according to birthweight, gestational age at delivery, pH, Ap score at 5th minute, abnormal neurological development and the need of intrauterine therapy. Ten cases of placental tumors were prenatally detected from 1999 to 2011. Among them 7 cases of hypoechogenic, non-vascularized cysts were identified and these neither effected the hemodynamics nor complicated fetal outcome. The vascularized tumors (chorioangioma) were the cause of severe anemia and hemodynamic disturbances and these led to fetal cardiac heart failure. In all cases of vascularized tumors from 2-3 intrauterine transfusion were performed. Rich vascularized tumors (chorioangioma) may cause hemodynamic disturbances and fetal heart failure. This may require intrauterine treatment and may result in abnormal fetal outcome and neurological development.

[Intrauterine blood transfusion in case of placental chorangioma]. / Wewnatrzmaciczna transfuzja w przypadku guza lozyska o typie chorangioma.

The paper presents a case of placental tumor causing hemodynamic changes. Doppler studies and fetal echocardiography allowed the diagnosis of hyperkinetic circulation in the course of fetal anemia. Cordocentesis has been performed and confirmed fetal anemia. The treatment used, intrauterine blood transfusion, allowed the compensation of hemodynamic and hematological disorders. Paper presents a detailed diagnostic and therapeutic procedures in the event chorangioma in pregnancy.

[Placenta previa percreta with bladder involvement managed conservatively--case report]. / Zachowawcze postepowanie w placenta previa percreta przerastajacym sciany pecherza moczowego--opis przypadku.

Placenta percreta is potentially a life-threatening condition. Pelvic organ invasion of the placenta carries high mortality and morbidity to the mother and fetus. We present a 33 year old gravida 3, para 2-0-0 female with placenta previa, percreta with bladder invasion. Placental invasion caused a giant vesicouterine fistula. The pregnant woman was managed conservatively until 33 weeks gestation, at which time she underwent a classical cesarean section. Postoperatively the patient was treated with methotrexate. Immediately postpartum the placenta was left in situ and successfully removed transvaginally after 11 weeks postpartum.