Childhood growth hormone treatment in women with Turner syndrome - benefits and adverse effects.

Turner syndrome (TS) is characterized by the partial or complete loss of one sex chromosome and results in growth failure, gonadal insufficiency and cardiac anomalies. Treatment with growth hormone (GH) during childhood has indisputable benefits when taking into account the low stature of TS women. Medical records and biochemical findings of 33 TS women treated with GH in childhood (GH+) were compared to those of 124 TS women who did not receive GH (GH-). It seems that the GH-treated group might have had a more severe initial phenotype than the untreated group, as evidenced by higher FSH, more feeding issues in infancy, more lymphedema cases and urinary system malformations. GH+ women were significantly taller and had a better lipid profile and lower prevalence of arterial hypertension than GH- . However, they also had lower thrombocyte counts, a greater prevalence of retrognathism and nail anomalies, especially when the GH treatment was delayed. Long-term GH use was not as effective for growth as GH treatment during the initial period and seemed to have resulted in elevated creatinine levels. GH treatment in childhood has benefits in adulthood; however, adverse effects may occur, especially in individuals with treatment that is delayed or is too long.

New insights into clinical features, karyotypes, and age at diagnosis in women with Turner syndrome.

INTRODUCTION: Turner syndrome (TS) is due to a chromosomal abnormality in which only one normal X chromosome is present. The purpose of the study was the assessment the prevalence of phenotypic differences in TS-women and monosomy-45,X and with other karyotypes as well as the possible relationship between the presence of differentiating features and age at final TS diagnosis. MATERIAL AND METHODS: The prevalence of anomalies and abnormalities from history taking/physical examination of 157 TS-patients was compared to 25 healthy controls (age 27.3 ± 4.5 years). The age at TS-symptom occurrence and final TS diagnosis was also analysed. RESULTS: Ninety-three TS women with 45,X (25.2 ± 7.1y) and 64 with other karyotypes (non-45,X) (age 24.1 ± 8.2 years) had lower growth than controls (144 ± 7.6 and 145.7 ± 6.8 vs. 165.8 ± 6.6 cm, respectively; p < 0.001). Only 15 and 12 out of 37 non-gynaecological features occurred more frequently in 45,X and non-45,X, compared to controls. 45,X and non-45,X wpmen did not differ in terms of body height. Out of 60 study parameters, only nine differed significantly between 45,X TS women and those with other karyotypes. Mean age at TS-symptom occurrence (45,X: 6.8 ± 5.4 years; non-45,X: 10.3 ± 5.2 years; p < 0.001) and final TS diagnosis (45,X: 13.2 ± 8 years; non 45,X: 17 ± 8.2 years; p = 0.004) differed between TS groups. CONCLUSIONS: 1. The prevalence of the majority of clinical manifestations of Turner syndrome does not differ between TS women with 45,X monosomy and non-45,X karyotypes. 2. Certain manifestations of Turner syndrome are more prevalent in women with non-45,X karyotypes compared to those with 45,X monosomy. 3. Clinical manifestations, the prevalence of which differs between TS-women with non-45,X karyotypes and 45,X monosomy, might help lower the age at diagnosis.

Social and medical determinants of quality of life and life satisfaction in women with Turner syndrome.

BACKGROUND: Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. OBJECTIVES: Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient. The aim of our study was to assess the impact of TS on selected variables of quality of life, and hence also life satisfaction in women with this syndrome. MATERIAL AND METHODS: The research was carried out in a group of 176 women with TS starting March 1995. The patients underwent anthropological and medical examinations, and their medical histories were taken using a questionnaire that included demographic and psychosocial items as well as issues related to selected variables of quality of life. In our research model, general life satisfaction was a dependent variable. The statistical analysis was conducted using the eta and Cramer's V correlation coefficients as well as a multidimensional logistic regression model. RESULTS: The main determinants of dissatisfaction with life in women with TS were short stature and feelings of loneliness and being handicapped. CONCLUSIONS: The determinants of life satisfaction in women with Turner syndrome were closely related to the private life of the study participants, in particular self-perception and feelings concerning their health status.

Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.

INTRODUCTION: A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it. MATERIAL AND METHODS: Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014. RESULTS: Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups. CONCLUSIONS: With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47-52).

The cohort effect in studies related to differences in psychosocial functioning of women with Turner syndrome.

INTRODUCTION: The physical health deficits and psychological disorders of women with Turner syndrome (TS) are the deciding factors in their treatment, but also their own relation to their own and their family's experiences. This study aimed to find the differences in psychosocial functioning of TS women coming from two different generations. These differences show the cohort effect as change in personal functioning and quality of life. MATERIAL AND METHODS: In-depth interviews were conducted with 176 TS women and their parents to collect data. The first cohort was composed of patients up to the age of 29 (n = 139), and the second included patients aged 30 or above (n = 37). Fifty-two variables, important from the point of view of health and quality of life, were analysed in two age groups. The paths models were compared to analyse differences between the cohorts. RESULTS: Belonging to a particular age cohort significantly affected the variance of the biomedical variables tested, which seems to be related to the therapeutic procedure due to an earlier diagnosis and treatment for younger patients. We also found differences in the number and strength of the correlations between the factors of psychosexual development, personal and family resources, socio-economic life, and professional or educational activity. CONCLUSIONS: (1) The psychosocial functioning of TS women changes over time. This is a kind of illustration of the cohort effect. (2) Medical aspects of Turner syndrome may remain in connection with the psychosocial functioning of patients, and determine their quality of life. (3) Psychosociological resources are more complex and involved in younger women with Turner syndrome.

The influence of hormonal replacement and growth hormone treatment on the lipids in Turner syndrome.

AIM: Women with Turner syndrome (TS) have a risk of developing cardiovascular diseases. We assessed the lipid and carbohydrate metabolism in TS-women in the context of current hormone replacement therapy (HRT) and growth hormone (GH) treatment during childhood. METHODS: The information were collected from medical documentation and anamnesis of 165 TS-women (24.9 ± 7.7 yr) between 1995 and 2011. The patients underwent a pituitary-gonadal axis assessment together with measurements of total cholesterol (TC), high- (HDL) and low- (LDL) density lipoproteins, triglycerides (TG), and glucose levels. RESULTS: Only 58% of women were using HRT. No differences were found in the levels of the lipid components and glucose in women who were undergoing HRT compared to those without it. Compared to TS-women without (n = 113), prior GH treatment in 34 TS-women positively influenced the lipid parameters: TC 5.0 ± 1.1 versus 4.6 ± 0.9 mmol/l (p = 0.03), HDL 1.5 ± 0.5 versus 1.4 ± 0.4 mmol/l (p > 0.05), LDL 3.3 ± 0.9 versus 2.9 ± 0.7 mmol/l (p = 0.03), and TG 1.1 ± 0.6 versus 0.8 ± 0.3 g/l (p = 0.009), respectively. CONCLUSIONS: (1) HRT does not affect lipid metabolism in TS-women. (2) The use of GH in TS-children favorably influences their lipid profile in adulthood.

Mammary invasive ductal adenocarcinoma and vulvar invasive keratinizing squamous cell carcinoma in a woman with disseminated discoid lupus erythematosus (DDLE) - a case review.

A case of metachronous presentation of two malignancies, invasive mammary ductal adenocarcinoma and later invasive keratinizing squamous cell vulvar carcinoma, complicating a 20 years long course of disseminated discoid lupus erythematosus is described. The authors underline a potential role of long-standing immunotherapy as a factor responsible for inducing secondary neoplasia.

[The values of peripheral blood cell count parameters in women with Turner's syndrome]. / Wartosci parametrów morfologii krwi obwodowej u kobiet z zespolem Turnera.

UNLABELLED: Turner's syndrome is a chromosomal anomaly which occurs in approximately one in 2500 females. The syndrome is characterized by the presence of primary gonadal dysgenesia which is manifested by, among others, amenorrhoea. Taking this fact into consideration, the values of blood cell count in Turner's syndrome women could have been expected to be better than the corresponding values in the general population of women. The aim of the present research is to evaluate the basics haematology parameters in women with Turner's syndrome. MATERIAL AND METHODS: Basic parameters of blood cell count were marked in 176 women with Turner's syndrome. One hundred and three subjects were found to have X monosomy, whereas the rest of the females had other types of karyotype. The results obtained were compared to the corresponding parameters in the general population of Polish women. RESULTS: There were no statistically significant differences between subjects with Turner's syndrome and general female population as far as the white blood system and the red blood system parameters were concerned. Similarly, the thrombocyte count failed to be significantly different in women with Turner's syndrome and in healthy women. However, Turner's syndrome subjects with 45, X karyotype, compared to females with other karyotypes, showed a significantly higher number of thrombocytes: 267.5 +/- 70 vs 240.1 +/- 69 thousand/mm3. CONCLUSIONS. 1. Basic parameters of peripheral blood count in women with Turner's syndrome do not differ from the reference values in general female population. 2. Turner's syndrome subjects with X monosomy are characterized by a significantly higher number of thrombocytes than other women.

[Height correlation analysis between women with Turner syndrome, their sisters and parents]. / Ocena zaleznosci wzrostu kobiet z zespolem Turnera i ich sióstr od wzrostu rodziców.

INTRODUCTION: The most frequent physical features associated with Turner syndrome is short stature. The main goal of the research was to estimate the height of women with Turner syndrome and to analyze the correlation between their height and their sisters and parents height. MATERIAL AND METHODS: The research was based on the 176 women with Turner syndrome (number of parents = 176; number of sisters = 122). The data was collected from 1995 to 2002 in Out-patient Clinic for Women with Turner's Syndrome in Bytom. RESULTS: Average height in the group of women non treated with growth hormone and anabolic drugs was 144.1 +/- 6.8 cm (n = 105), mothers average height: 162 +/- 5.3 cm, fathers average height: 172.4 +/- 6.1 cm, sisters: 164.9 +/- 5.2 cm (n = 79). The height of women with karyotype 45,X was slightly shorter: 143.1 +/- 6.9 cm, while the height of the family have remained unchanged. Contrary to all untreated women with Turner syndrome where the height was correlated with the mothers and fathers height (pearson's r = 0.32 and 0.34 respectively), sisters height was correlated mainly with fathers height (pearson's r = 0.47 and 0.34 respectively). In the group with karyotype 45,X patients' height was correlated mainly with mothers height (r = 0.55). In this group sisters height is correlated stronger with fathers' height (r = 0.45) than with mothers' height (r = 0.35). CONCLUSIONS: 1. The height of non treated women with Turner syndrome is correlated with both parents height while the height of sisters is correlated mainly with fathers. 2. The height of Turner syndrome women with karyotype 45,X is correlated with their mothers height.

[Selected problems of the diagnosis of Turner's syndrome]. / Wybrane aspekty rozpoznania zespolu Turnera.

UNLABELLED: Turner's syndrome (TS) can be diagnosed in one out of 2130 females. The aim of the current study was to collect data about circumstances associated with the diagnosis of the syndrome. The material consisted of 177 female patients from the whole Polish territory, that turned to the out-patient Clinic for Women with Turner's syndrome, Specialist Hospital No 2 Bytom. Patients underwent physical examination and all relevant clinical information were analysed. The mean age when the abnormal symptoms were found was 8.5 years. Only 50% of those, who first turned their attention to these symptoms, were the health care workers. The initial symptoms were quite variable. Classical symptoms, i.e. short stature and amenorrhea were present respectively in only 41% and 8% of patients. In 16% of patients the diagnosis was significantly delayed, because, due to a lack of symptoms TS was not suspected. The latest cases were diagnosed at the age of 14.6 +/- 8.2 years. When it came to analysing karyotypes, simple chromosome X monosomy was present in 56% of patients and in 24% of cases mosaic karyotypes were found. Studies were performed in 14 cities in Poland. CONCLUSIONS: 1. In most cases diagnosis of TS was markedly delayed. 2. More efforts are required in order to perform karyotype studies in younger patients then it is now. Also molecular studies should become more easily available, since they are a necessary supplement to cytogenetic studies.

[Pregnancy in a woman with Turner syndrome--two new cases]. / Ciaza u kobiety z zespolem Turnera--dwa nowe przypadki.

Pregnancies resulting from a spontaneous ovulation and fertilization are extremely rare in women with Turner syndrome. The majority of them end with abortion, still-born, or neonates with congenital defects. The article presents two women with Turner syndrome, mosaic karyotype 45,X/46,XX, who got pregnant without any medical intervention. The course of one pregnancy was complicated by imminent premature delivery, pyelonephritis and anaemia. Because of the lack of progress and threatening infection, the delivery was conducted by caesarean section in 40th week of pregnancy. Healthy male neonate was born. The other patient gave birth in 38th week of pregnancy to a healthy baby boy, by caesarean section, because of lack of progress in delivery. Children develop correctly. It is important to note, that despite distinct clinical features, in first patient Turner syndrome was identified 3 years after delivery.

Are young women with Turner syndrome at greater risk of coronary artery disease?

BACKGROUND: Turner syndrome is an X chromosome aberration that affects females. Women with Turner syndrome are exposed to a greater risk of coronary artery disease, arterial hypertension and type 2 diabetes mellitus. DESIGN: The objective of our study was to assess the prevalence of classic risk factors of coronary artery disease in young women with Turner syndrome in comparison to a representative group of Polish young women from the general population. METHODS: The study enrolled 176 women aged 25 years with Turner syndrome from the whole of Poland. The controls were 231 young women selected to be representative, who took part in the NATPOL PLUS study (website: http://www.natpol.pl). RESULTS: Women with Turner syndrome tended to be shorter and lighter than the general population (P < 0.0001), they were also found to present higher values of body mass index and waist-hip ratio (P < 0.0001). Significantly higher values of diastolic blood pressure (P < 0.0001) and levels of total cholesterol and low-density lipoprotein fraction were found in the group of women with Turner syndrome, whereas the high-density lipoprotein fraction level was lower (P < 0.05). Similarly, glucose levels on an empty stomach were significantly higher among women with Turner syndrome (P < 0.0001). CONCLUSION: Women with Turner syndrome constitute a group at higher cardiovascular risk. This group of women requires effective preventative medicine from the earliest age.

[Selected problems of the nephrological and urological status of women with Turner's syndrome]. / Wybrane aspekty nefrologiczne i urologiczne u kobiet z zespolem Turnera.

UNLABELLED: Nephrological and urological problems among women with Turner's syndrome (TS) have not been frequently investigated so far. The aim of our study was to address those issues in adult women with TS in Poland. 176 women with TS, whose age was between 18 and 51 years, who presented to our center from the whole territory of Poland between March, 1995 and December, 2002 were examined. A particular attention was payed to nephrological and urological status of those patients. 61 women (34.7%) presented with inflammatory status in urinary tract. In 24.6% of them anatomical, congenital defects of the urinary tract were discovered. Both the presence of inflammation as well as a defect itself have no influence on incidence and degree of arterial hypertension, diabetes mellitus, antropometric parameters of those patients with TS and other, laboratory parameters assessed. CONCLUSIONS: 1. Women with TS suffer from urinary tract inflammations significantly more frequently then it happens in general female population. 2. Urinary tract diseases among women with TS, associated with leukocyturia are either not related to, or related not only to the characteristics of the type of a particular congenital defect of the urinary tract.

[Anorexia nervosa in woman with Turner's syndrome]. / Jadlowstret psychiczny u kobiety z zespolem turnera--opis przypadku.

The authors report a case of anorexia nervosa in woman with Turner's syndrome (45, X). In this case there was a low blood concentration of LH and FSH, and there was a lack of reaction to intravenous administration of 100 micrograms of GnRH. Partial syndrome of "empty sella" was found in a presented case by use of magnetic resonance imaging. There was a connection between the onset of anorexia nervosa and the tragic death of the patient's father. The inconsiderate start with HRT aggravated a course of a anorexia nervosa. The authors considered the plausible existence of relations between "empty sella" and the development of anorexia nervosa.