Shereshevsky-Turner Syndrome Research Articles

MULTIPLE MYELOMA AND SHERSHEVSKY TERNER'S SYNDROME (CLINICAL CASE)

A clinical case of a patient with multiple myeloma with Shereshevsky-Turner syndrome was analyzed. The effectiveness of treatment according to the VRD protocol in the first line in the treatment of multiple myeloma with concomitant congenital mutations was assessed. An early relapse of the disease was revealed, requiring polychemotherapy with monoclonal antibodies.

Study of biochemical markers during the first trimester of pregnancy among women of Almaty city

One of actual problems is the birth of children with genetic diseases, such as Down syndrome, Edwards syndrome, Patau syndrome, Shereshevsky-Turner syndrome. Study of level of biochemical markers of the first trimester of pregnancy for diagnose of chromosomal abnormalities in fetus was the purpose and objectives of this research. A risk group was identified, including 684 women on the base of results of studies of biochemical markers of the 1-st trimester of pregnancy – PAPP-A and β-hCG. In these pregnant women, PAPP-A and β-hCG concentrations were higher or lower than normal values. It has been shown that decrease in PAPP-A levels and increase or decrease in β-hCG in the 1-st trimester of pregnancy may indicate the presence of a chromosomal abnormality in the fetus. Next, a pattern has been identified that with increasing women age, the risk of having children with chromosomal abnormalities increases. During the study, it was found that PAPP-A levels are reduced at Down and Edwards syndromes and slightly reduced at Shereshevsky-Turner syndrome. Level of β-hCG is significantly higher at Down syndrome, while at Edwards syndrome, on the contrary, it has reduced values; and at Shereshevsky-Turner syndrome the level of β-hCG has a normal value. Changes in levels of these indicators from norm do not always indicate a fetal pathology, but they are grounds for further medical examination.

Синдром Шерешевского–Тернера – природная модель первичного гипогонадизма у девочек (случай из практики)

Shereshevsky-Turner syndrome refers to chromosomal diseases associated with the pathology of sex chromosome. The syndrome is the only viable monosomy (there is only one chromosome from a couple), refers to frequent genomic disorders. At the same time, the lack of recognizable phenotypic symptoms, the gradual development of quite common manifestations (deviations of physical and sexual development) complicates the timely diagnosis of the syndrome. The lag in growth, the formation of secondary sexual characteristics is a factor requiring clarification of the cause. The time of diagnosis is the key to timely therapeutic tactics, which provides an improvement in the quality of life in caae of the pathology of sexual chromosomes, optimal socialization in modern society. The lack of diagnosis does not allow to start the necessary pathogenetic therapy

Clinical case of pregnancy and childbirth in a woman with a mosaic variant of Shereshevsky-Turner syndrome

Clinical case of pregnancy and childbirth in a woman with a mosaic variant of Shereshevsky-Turner syndrome

A clinical case of severe Duchenne muscular dystrophy caused by a nonsense mutation in the DMD gene in a girl

Duchenne muscular dystrophy (DMD) is a hereditary progressive muscular dystrophy, mainly manifested in boys, is characterized by the onset at an early age, gradual symmetrical atrophy of the striated musculature of the limbs, trunk, as well as damage to the heart muscle. As a rule, girls and women inheriting a pathological mutation are classified only as its carriers and do not have clinical manifestations of the disease. Rare cases when women or girls show clinical manifestations of DMD may be due to chromosomal rearrangements involving the region of the short arm of the X chromosome (Xp21.2), deletions of this region, complete loss of the X chromosome (Shereshevsky-Turner syndrome), homogenous X chromosome dysomnia, compound heterozygous state for two pathogenic mutations in the DMD gene, nonequilibrium inactivation of the X chromosome. When female mutation carriers have DMD clinical symptoms, they usually manifest much milder than boys and young males. Descriptions of patients with the severe course and rapid progression of the disease, comparable in the rate of progression with boys, are rare. In this article, the authors share their experience of observing a girl patient who suffered from a severe form of DMD.

Shereshevsky-Turner syndrome and pregnancy

Turner syndrome (TS) in most cases leads to infertility. However, the literature describes cases of physiological pregnancy in the mosaic form of TS. Thanks to accessory reproductive technologies, the number of women who have become mothers is increasing. But effective treatment of infertility is impossible without hormone replacement therapy. A woman with TS during pregnancy and childbirth should be under supervision because of the increased risk for obstetric and somatic pathology.

Pregnancy and childbirth with Shereshevsky–Turner syndrome, established at 12 years of age

The article presents a personal observation of the course of pregnancy and childbirth in a patient with a typical form of gonadal dysgenesis (ShereshevskyTurner syndrome, karyotype 45,X0/46,XY in the ratio of clones 1:1). The diagnosis was established at 12 years of age during an examination for growth retardation and lack of signs of puberty. Given the presence of a 46,XY clone in the karyotype, a high risk of malignization of dysgenetic gonads, laparoscopy and gonadectomy were performed at 12 years of age. Pregnancy occurred after preparation of the endometrium with estrogens and progestogens, as a result of the first in vitro fertilization attempt with a donor egg and her husbands sperm, occurred against the background of hormonal support with the threat of termination of pregnancy and hypercoagulation. At 34 weeks, there was a premature detachment of placenta, in connection with which she was delivered by cesarean section.

PREGNANCY AFTER IVF IN A PATIENT WITH SHERESHEVSKY-TURNER SYNDROME (clinical case)

Shereshevsky-Turner Syndrome (SJT) is caused by full or partial X-monosomy, presented in all or part of the cells of the body. For Shereshevsky-Turner syndrome, pronounced hormonal disorders are characteristic - these are primary ovarian, somatotropic, thyrotropic insufficiency, as well as defects of the cardiovascular and urinary systems. With the advent of ART, pregnancy has become more accessible for this category of patients, most often with a donor egg. In the available literature, it was not possible to find the exact information on the selection of progestogen support, duration of appointment, and term of withdrawal; therefore, the clinical case is presented below. In this case, we left high maintenance doses of progesterone, not only due to the use of ART, but also due to concomitant extragenital pathology, which leads to a decrease in all functions of the placenta, including endocrine.

Risk factors of formation of congenital heart diseases

The authors conducted investigation to study the influence of risk factors on the frequency and structure of congenital heart defects of children in the Bukhara region. It has been established that the frequency of CHD is 4.72 cases for every 1000 births, 4 times more common in children living in rural conditions. Analysis by cities and districts of the Bukhara region showed that CHD is more common in industrialized regions of the region. Consequently, there is a high rate of a trend towards an increase in the birth rate and mortality of children with CHD. The fact, established about the high mortality rate of children under 5 years old without surgical correction, proves the need for timely surgical treatment of viable children in the first year of life. Among the significant factors determining the indicators of morbidity and mortality of the population is congenital developmental pathology (CDP), which is a serious medical and social problem. Significant differences in the incidence of CDP, including their individual forms, in different regions, even within the same state, depend on historical, ethnic, demographic, environmental and other factors. The cause of many congenital malformations remains unknown. This group of defects includes predominantly rarely occurring congenital malformations due to chromosome disorders. Cases of CHD with chromosomal syndromes are up to 4%. Various variants of CHD are characteristic of such chromosomal syndromes as Down syndrome, Shereshevsky-Turner syndrome, Patau and Edwards's syndrome. It should be noted that in the period under consideration in Bukhara, children with CHD in different numbers were born annually. However, on average, 167.6 cases of birth of newborns with CHD are registered annually.

Psychosomatic disorders in people with Shereshevsky-Turner syndrome

The article deals with topical issues related to the etiology, peculiarities of the phenotypic manifestations of the Shereshevsky-Turner syndrome in different age groups.The incidence of Shereshevsky-Turner syndrome among newborn girls is 1: 2000-1:5000, although some studies mention much more frequent occurrence.An analysis of the features of mental development in patients with partial or complete monosomy was carried out.Patients with Shereshevsky-Turner syndrome should be under a constant supervision of clinical psychologists who are aware of the peculiarities of the disease, and it is also necessary to carefully develop social skills and attitudes in social medium, which will be useful in their further social adaptation.

Psychosomatic disorders in people with Shereshevsky-Turner syndrome

Psychosomatic disorders in people with Shereshevsky-Turner syndrome

Hormone replacement therapy in a patient with Shereshevsky-Turner syndrome and a history of congenital thrombophilia and estrogen-associated thrombosis

Hormone replacement therapy in a patient with Shereshevsky-Turner syndrome and a history of congenital thrombophilia and estrogen-associated thrombosis

Shereshevsky-Turner syndrome: Estrogen replacement therapy and cardiovascular risk factors

To investigate the impact of menopausal hormone therapy (MHT) on the expression of risk factors for cardiovascular events (CVEs) in patients with Shereshevsky-Turner syndrome (STS); to elaborate an algorithm for patient management using MHT. From 2010 to 2012, a total of 41 patients aged 14 to 35 years with STS were examined in the framework of a prospective observational study. 100 STS case histories in 2000 to 2009 were retrospectively analyzed. The indicators of the so-called cardiometabolic risk, such as body mass index (BMI), lipidogram readings, venous plasma glucose levels, and blood pressure, were estimated in relation to the type of MHT. In the prospective part of the investigation, an angioscan was used to estimate vessel characteristics (stiffness, wall tone, endothelial function (EF)), by using the examination data. 90% of the patients with STS were found to have risk factors for CVEs: atherogenic dyslipidemia (85%; 51% in the general female population of the same age), diastolic hypertension (36%; no more than 5% that is not typical for age-matched healthy general female population). In addition to increased arterial wall stiffness (AWS), obvious EF disorder is typical for STS patients. MHT was accompanied by a dose-dependent (estradiol, at least 2 mg) reduction in diastolic blood pressure by an average of 13% over 24 months, an increase in high density lipoprotein levels by more than 10% over 24 months and also contributedto a decrease in AWS and an improvement in EF. By favorably affecting the EF of vessels and reducing the severity of atherogenic dyslipidemia, MHT potentially enables a reduction in CV risk in patients with STS.

Morphological features of female gonadal dysgenesis and karyotype in patients with Shereshevsky-Turner syndrome

The aim of the work - the study of the morphological and immunophenotypic variants of the structure gonads in gonadal dysgenesis (GD) and karyotypic characteristics of patients with the Shereshevsky-Turner syndrome (SHTS). There were investigated the tissue samples of the removed gonads and ovaries from 16 SHTS patients with GD and 11 patients from the control group without SSHT whose ovaries had been removed due to parovarian cysts. The morphological study was executed with immunohistochemical typing of gonadal tissue with the detection of expression: Ki-67, Vimentin, Desmin, Inhibin A, ER ( «DAKO»), AR ( «SpringBioscience»). The karyotype was investigated by means of cytogenetic method, whereas the presence of the SRY-gene - with aid of PCR-reaction in blood lymphocytes. As a result, there were established morphological variants of GD in SHTS: streak-gonads (8 patients), GD with ovarian stroma (6 patients), GD with the formation of the gonadoblastoma (2 patients). At that in the blood lymphocytes of SHTS patients there were discovered following karyotypes: 45Х, 45X/46XY, 45X/46XX, 45, Х, t (4, 19) (р14, q13.3), 45, Х[5]/46, Xi(X)(q10)[20], 45, Х[31]/46, Xi(X)(q10)[19], 46Xpsui(Y)(q10)[6]/45, Х[3]/46 XY[20]. There were revealed statistically significant correlations between karyotypes of blood lymphocytes and immunophenotypes of cell of the genital cord stroma, fibroblasts and GD germinal cells. Markers directly relating to the survival of follicles: inhibin-a, AR, ER were of the greatest importance for the development of someone or other morphological variant. GD in patients with ovarian stroma were differed in the greatest expression of ER (p < 0.05). SRY-gene was detected in the 1 patient with the lack of Y-chromosome. In two patients gonadoblastoma was found in GD without the presence of the SRY-gene in blood lymphocytes. The data obtained testify to a variety of morphologic and immunophenotypic variants of GD in SHTS, which are not always correlated with the karyotype of blood lymphocytes ofpatients that may partly reflect a possible discrepancy between the karyotypeofblood lymphocytes and DG tissue due to gene mosaicism.

SHERESHEVSKY-TURNER SYNDROME IN AORTIC SURGERY: AN EXAMPLE OF HYBRID ANEURISM TREATMENT AND DISSECTION OF THORACOABDOMINAL AORTA

Shereshevsky-Turner syndrome — is chromosome anomaly, the monosomia by X-chromosome (cariotype 45, X0) that has prevalence 1:2000-1:2500 newborn girls. It is well known that these patients very often have cardiovascular pathology. Aortic aneurysm is 100 times more common than in general population. Another significant specifics is the high risk of aortic dissection even with relatively small diameter of aorta, than in average for the dissections. Currently it is common to concern a variety of aortic pathology treatment ways in patients with the syndrome: traditional open-chest interventions, endovascular treatment, hybrid operations. The article provides an example of successful usage of the hybrid method in women 58 years old with Shereshevsky-Turner syndrome, thoracoabdominal aortic aneurysm and dissection of descending thoracal and abdominal aorta parts. The clinical example shows that hybrid method makes it to perform radical intervention on aorta, decreasing traumaticity of operation, mortality and complications rate in postoperation period.

Federal clinical practice guidelines on the diagnostics and treatment of Shereshevsky-Turner syndrome

Shereshevsky-Turner syndrome is a chromosomal pathology related to partial or complete monosomia. Characteristic manifestations of this condition include growth retardation, sexual infantilism, and various inborn anomalies of the physical development. The present recommendations present information on etiology of this disease, its pre- and postnatal diagnostics, protocols of relevant studies and treatment of the patients belonging to different age groups.

Federal clinical practice guidelines on the diagnostics and treatment of Shereshevsky-Turner syndrome

Shereshevsky-Turner syndrome is a chromosomal pathology related to partial or complete monosomia. Characteristic manifestations of this condition include growth retardation, sexual infantilism, and various inborn anomalies of the physical development. The present recommendations present information on etiology of this disease, its pre- and postnatal diagnostics, protocols of relevant studies and treatment of the patients belonging to different age groups.

Clinical polymorphism of Shereshevsky-Turner syndrome in Rostov region and Northern Caucasus in 1978-1998

Polymorphism of Shereshevsky-Turner syndrome (STS) was studied in 233 patients who were examined at medical genetic services of the Research Institute of Obstetrics and Pediatrics (Rostov-on-Don) and Rostov Regional Hospital from 1978 to 1998. The subjects examined were residents of the Rostov oblast (administrative region) (RO) and some settlements in the northern Caucasus (NC). The mean incidence rate of STS was 3.8 per 10,000 newborns in this region in the period studied. Most STS cases were accounted for by the X trisomy (60 and 66.6% in the RO and NC, respectively). The mosaic form of STS was found in 25% of cases in both RO and NC. Other cytogenetic forms were found in 13.5 and 8.33% of patients from the RO and NC, respectively. The clinical polymorphism of STS, dynamics of its manifestation during ontogeny, and anthropometric parameters of the patients were studied. The effects of the age of parents, the season and month of conception, occupational hazards at the parents' workplaces, and the place of residence on the risk of STS were analyzed. Factor analysis was used to determine the sets of the main clinical signs characteristic of different STS cytogenetic forms in the RO and NC populations.

The Effect of the X-Monosome Cell Clone Frequency on Anthropometric Variation in Patients with Shereshevsky–Turner Syndrome

Using methods of mathematical statistics the relationships were determined between 31 anthropometric traits (ATs) and the frequency of the X-monosome cell clone in 53 patients with either 45,X-monosomy or mosaic forms (45,X/46,XX) of the Shereshevsky–Turner syndrome (STS). AT variations were studied in patients untreated with growth hormone and in 25 control fertile healthy women. In 29 patients, the degree of mosaicism was assessed by interphase FISH analysis using X-centromer-specific DNA probe hybridized to the cell nuclei of two types of tissues differing in embryonic origin (lymphocytes and oral epithelium, originating from meso- and ectoderm, respectively). The level of X-monosome mosaicism had a substantial effect on some AT, which depended similarly on the proportion of X-monosome cells in tissues of different embryonic origin. Statistically significant negative correlations were revealed between the size of X-monosome clone and 13 height–weight, longitudinal, and circumference traits, whereas positive correlations were characteristic of seven mostly width traits. Eleven ATs showed no correlation with the X-monosome cell clone. Discriminant analysis of all ATs, whose variations depended on the frequency of X-monosome cell clone, was found to be an essential tool for precise classification of both STS patients with different degree of mosaicism and healthy women. Based on these results, the set of ATs characteristic of the STS phenotype was identified.

The Shereshevsky-Turner syndrome: Spontaneous growth and growth-promoting effects of estrogen replacement therapy

Short stature and ovarian failure are typical features of Turner's syndrome (TS). Although growth in TS has been intensively studied, few data are available concerning the influence of different karyotypes and estrogen replacement therapy on the growth of TS patients. This paper presents the first results of studying the growth of TS patients in Russia. Sixty-one girls aged 5 to 17 with TS were examined. Auxological data included parental height (Ht), target Ht, predicted Ht (1), spontaneous Ht, Ht SDS (Tanner), Ht SDS TS (1), birth length, birth length SDS, and Ht SDS for BA before and after estrogen therapy. The diagnosis of TS was confirmed by the identification of the karyotype from peripheral leukocytes. 45,X karyotype was detected in 69%, different types of mosaicism including X chromosome (45,X/46,XX; 45,X/46,X(r)x) in 16%, 46,Xi(q) and deletions of X chromosome in 10%; Y chromosome mosaicism (45,X/46,XY) in 5%. Estrogen replacement (dihydrostilbestrol orally in a daily dose of 1.0 mg) was started at BA11.0 years if no signs of spontaneous puberty were observed. The mean duration of estrogen therapy was 0.960.15 years. A moderate growth delay was seen at birth (0.950.11 Ht SDS). There was no correlation between birth length and parental height (r=0.09 for maternal and r=-0.33 for parental height, respectively). The degree of postnatal growth retardation negatively correlated with CA (r=-0.647; p0.01). Short stature was particularly evident at CA9.0 yrs (-2.460.19 Ht SDS and -3.360.20 Ht SDS, CA9.0 yrs vs. CA9.0 yrs, respectively). The karyotype (45, X or mosaicism) did not influence growth retardation either at birth (49.320.28 cm vs. 48.610.56 cm; p=0.48) or in the postnatal life (p=0.8). Estrogen appreciably accelerated the growth (0.600.14 and 0.800.15 Ht SDS TS, before vs. after estrogen, p=0.006), followed by a decrease of SDS for BA (-1.430.23 vs. -1.800.34, p=0.2). Hence, spontaneous growth in Turner girls in Russia does not appreciably differ from European standards. Short stature progressed with age irrespective of the karyotype (45,X or mosaicism). Low estrogen doses, minimizing the unfavorable effects on BA maturation, are more appropriate for replacement therapy in TS.