Inger Bryman

Osteoporosis and fractures in Turner syndrome-importance of growth promoting and oestrogen therapy

Turner syndrome (TS) is a chromosomal aberration (45,X) characterized by endogenous oestrogen deficiency and short stature. The aim was to study body composition, bone mineral density, fracture frequency, social and life style factors and biochemical bone markers, as well as hormones, in adults with TS in comparison with a female random population sample.

Pregnancy rate and outcome in Swedish women with Turner syndrome

Pregnancies occurred in 57 (12%) of 482 Swedish women with Turner syndrome with a liveborn rate of 54% in 124 pregnancies. Spontaneous pregnancies occurred in 40%, mainly in women with 45,X/46,XX mosaicism, and oocyte donation in 53% where miscarriages were less frequent, odds ratio = 0.43 (95% confidence interval 0.17-1.04).

Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome.

Objective  To study genotype–phenotype correlations in Turner syndrome (TS) regarding body composition, cardiovascular risk factors, stigmata and age at diagnosis vs. degree of mosaicism estimated as the percentage of 45,X and 46,XX cells.

Impact of Growth Hormone Therapy on Quality of Life in Adults with Turner Syndrome

CONTEXT GH and/or oxandrolone are used to promote growth in Turner syndrome (TS). OBJECTIVE The aim of this study was to compare quality of life (QoL) in TS women with controls and determine the impact of growth promoting therapy on QoL in TS women. DESIGN This was a cross-sectional, case-control study. SETTING The study was conducted at an outpatient clinic at Sahlgrenska University Hospital, Göteborg, Sweden. PATIENTS PATIENTS included 111 TS women (age range 18-59 yr) and 111 randomly selected, age-matched women (25-54 yr) from the World Health Organization Monitoring Trends and Determinants for Cardiovascular Disease project (Göteborg, Sweden) served as controls. MAIN OUTCOME MEASURES QoL was estimated by the Psychological General Well-Being scale (anxiety, depressed mood, positive well-being, self-control, general health and vitality) and the Nottingham Health Profile (physical mobility, pain, sleep, energy, social isolation, and emotional reactions). RESULTS TS women reported more social isolation than controls (P < 0.001). After age adjustment, significantly less pain (<0.05) was reported attributable to GH treatment within TS. No significant difference in any other subscales used could be shown. In TS, QoL was negatively affected by higher current age and age at diagnosis and positively affected by better body balance, fine motor function, and higher bone mineral density. CONCLUSIONS Social isolation was more commonly reported in the whole TS cohort than in the population. Except for less pain, no significant impact on QoL attributable to GH treatment could be found, despite the mean +5.1 cm final height.

Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism.

AbstractPurpose: To present a case involving pregnancies in a Turner woman with Y-chromosome mosaicism. Method: A descriptive case report of a single patient. Results: A 39-year-old woman was admitted to the endocrine clinic due to fatigue and premature menopause. She had tried in-vitro fertilization and oocyte donation twice without pregnancies but became spontaneously pregnant at age 36 and 37 and delivered two girls. During the seventh month of the second pregnancy, a dissecting aortic aneurysm, a coarctation, and subsequently a pheochromocytoma were detected and repaired. Hypothyroidism developed. Turner syndrome was diagnosed. Fluorescence in situ hybridization (FISH) analysis of lymphocytes revealed 31% XY cells and 4% XYY cells, while 66% of buccal cells had an XY constitution. Oophorectomy revealed no malignancy. FISH revealed 54% XY cells in the left gonad and 38% XY cells in the right. Conclusion: Turner syndrome should be suspected in women with aortic dissection, in general, but especially in those with additional features such as horseshoe kidney, coarctation, and infertility.

Morbidity and mortality after childbirth in women with Turner karyotype

STUDY QUESTION Do women with Turner karyotype have increased mortality and morbidity in the years after childbirth? SUMMARY ANSWER No mortality occurred during pregnancy and follow-up in women with Turner karyotype, but a higher rate of circulatory and endocrine diseases and a high risk of aortic aneurysm were confirmed. WHAT IS KNOWN ALREADY Pregnancies in women with Turner karyotype are high-risk pregnancies with an increased risk of maternal mortality from aortic dissection and morbidity from hypertensive disorders. STUDY DESIGN, SIZE, DURATION A retrospective Swedish population-based registry study of 124 women with Turner karyotype born between 1957 and 1987 and who gave birth between 1973 and 2010. Women with Turner karyotype without childbirth (n = 378) were selected as controls. A second control group consisted of women from the Swedish Medical Birth Register (MBR) (n = 1230) matched for maternal age, number of children and year of birth of the first child. PARTICIPANTS/MATERIALS, SETTING AND METHODS Women with Turner karyotype were identified in the Swedish Genetic Turner Register. Data were obtained by using the unique personal identification number with cross linkage to the Swedish MBR, the Cause of Death Register, the National Patient Register and the Swedish Cancer Register. Hazard ratio (HR) with 95% confidence interval (CI) was used in the analysis of morbidity. MAIN RESULTS AND THE ROLE OF CHANCE No mortality occurred in women with Turner karyotype and childbirth. Diseases of the circulatory system occurred more often in women with Turner syndrome under the age of 40 years compared with the MBR control group (HR 4.59; 95% CI 2.75-7.66) but was similar at or above the age of 40 years. Morbidity from circulatory diseases was increased before pregnancy (HR 3.83; 95% CI 1.02-14.43) and during pregnancy or within 1 year after (HR 5.78; 95% CI 1.94-17.24), but was similar after 1 or more years after delivery (HR 1.91; 95% CI 0.74-4.96). Aortic aneurysm occurred in 11/502 (2.2%) women with Turner karyotype and in three women (2.4%) during pregnancy. The long-term follow-up showed that aortic dissection was a common cause of death in young women with Turner karyotype without childbirth. A thorough cardiac evaluation before pregnancy in women with Turner karyotype is of utmost importance. LIMITATIONS, REASONS FOR CAUTION Although this was a population-based registry study performed over a period of more than 20 years, a much longer follow-up and larger series are needed to assess rare events. The study also lacks information on phenotype and mode of conception in women with Turner karyotype. Women who gave birth probably represent a selection of healthier women with Turner karyotype. WIDER IMPLICATIONS OF THE FINDINGS The high risk of aortic aneurysm in young women with Turner karyotype is in agreement with the literature.

Some Anthropological Aspects of the Climacteric Syndrome

Abstract. The female climacteric is known from the literature for centuries. Certain signs are obvious, but some symptoms are deliberately concealed by many women as they are regarded askance by herself and by society at large. Only very recently did knowledge of the psychological and physiological processes involved in the female climacteric reach the point of medical science. This has been accompanied by a more open attitude on the part of society towards climacteric problems of various kinds. The number of newspaper articles dealing with the climacteric, books with advice for climacteric women and courses on the management of climacteric symptoms is steadily growing. The fear for and the fear of climacteric symptoms have therefore declined among the population and a substantial number of women now consult their doctors to obtain relief. For Sweden, only the last decade has involved programmes for climacteric women. Such programmes comprise not only hormonal replacement therapy but also in addition attempts to increase knowledge among women and in society as well as efforts to obtain a social, psychological and physical wellbeing.

Elevated liver enzymes in Turner syndrome during a 5-year follow-up study

Objectives  To study the prevalence and incidence of elevated liver enzymes and their relationship with body weight, metabolic factors and other diseases in Turner syndrome (TS).

Obstetric Outcomes in Women with Turner Karyotype

CONTEXT Women with Turner syndrome (TS) have high risk of cardiovascular complications and hypertensive disorders. Few studies have analyzed obstetric outcome in women with TS. OBJECTIVE This study compared obstetric outcome in women with TS karyotype with women in the general population. DESIGN The Swedish Genetic Turner Register was cross-linked with the Swedish Medical Birth Register between 1973 and 2007. Obstetric outcome in singletons was compared with a reference group of 56,000 women from the general population. Obstetric outcome in twins was described separately. RESULTS A total of 202 singletons and three sets of twins were born to 115 women with a TS karyotype that was unknown in 52% at time of pregnancy. At first delivery, TS women of singletons were older than controls (median 30 vs. 26 yr, P < 0.0001). Preeclampsia occurred in 6.3 vs. 3.0% (P = 0.07). Aortic dissection occurred in one woman. Compared with the general population, the gestational age was shorter in children born by TS women (-6.4 d, P = 0.0067), and median birth weight was lower (-208 g, P = 0.0012), but sd scores for weight and length at birth were similar. The cesarean section rate was 35.6% in TS women and 11.8% in controls (P < 0.0001). There was no difference in birth defects in children of TS women as compared with controls. CONCLUSIONS Obstetric outcomes in women with a TS karyotype were mostly favorable. Singletons of TS women had shorter gestational age, but similar size at birth, adjusted for gestational age and sex. Birth defects did not differ between TS and controls.

Background factors and scoring systems in relation to pregnancy outcome after fertility surgery

Background. A study was initiated to identify background factors, clinical features and pre‐operative scoring systems of importance for future selection of patients suitable for fertility surgery.