Spontaneous resolution of a cystic hygroma in a fetus with Turner syndrome

The prenatal detection of a cystic hygroma (CH) in a fetus with a 45,X karyotype is described. The cystic hygroma underwent spontaneous resolution and a healthy baby with Turner syndrome was subsequently born. The implications for genetic counselling are discussed.     

Brain-derived neurotrophic factor plasma levels in patients with Turner syndrome

Introduction: Brain-derived neurotrophic factor (BDNF) plays a key role in neural development and synaptic plasticity. BDNF is known to circulate in plasma and its levels are strictly linked to the sex hormones.

Aim: The aim of this study was to assess the plasma BDNF concentration in patients with Turner syndrome (TS). This is a first of such study in TS women.

Methods: 31 TS patients were enrolled to the study and compared with a control group (10 healthy, ovulatory women). We collected blood for measurement of BDNF plasma concentration, estradiol (E2) and gonadotrophins serum levels. The blood was taken after overnight fasting, in menstruating women in follicular phase.

Results: We found that BDNF plasma concentration was significantly higher in the group of TS patients compared to the control group (mean 768.5?±?194.9?pg/ml versus 407.2?±?25.7?pg/ml; p?r?=?0.92; p?Conclusions: In this study, we showed for the first time that TS patients has a higher BDNF levels than healthy ones and BDNF is not correlated with E2 concentration but tend to be related to testosterone. This study brings interesting insights to BDNF physiology.     

先天性卵巢发育不全综合征

先天性卵巢发育不全综合征(Turner syndrome,TS)是女性最常见的性染色体异常疾病之一。1768年Giovanni对一个身材矮小的女性进行尸检时,发现该妇女存在肾脏畸形并伴有卵巢发育不全。之后有学者发现一些临床表现为身材矮小、蹼颈、先天性淋巴水肿的女性伴有卵巢发育不全。1959年     

Molecular identification of chromosome Y sequences in Brazilian patients with Turner syndrome

The investigation of Y-specific sequences in patients with Turner Syndrome (TS) with karyotype 45,X or mosaic, has a fundamental role in the clinical management of these patients. The relationship between the presence of Y chromosome fragments and a higher risk of gonadoblastoma in TS has already been established. The aim of the study was to investigate the presence of Y-chromosome fragments in a population of 42 female Brazilian patients with TS from Mato Grosso state. Cytogenetic analysis has shown the karyotypes 45,X in 27 of them (64.3%) and mosaic in 15 (35.7%). The presence of the Y-primers SRY, DYZ3, ZFY, DYZ1, DYS1 and PABY was investigated in all patients. These markers were amplified by polymerase chain reaction (PCR) technique, using DNA genomic from peripheral blood lymphocytes. None of these patients had shown any Y-chromosome fragments when they were analysed only by the classic cytogenetic technique. The PCR analysis with the Y-specific sequences ZFY and DYZ3 were identified in two different patients (4.8%), both with karyotype 45,X. It was concluded that PCR is efficient in the investigation of hidden Y-fragments in TS patients. Therefore, this method should be included in the routine assistance of these patients.     

Pregnancy in a patient with Turner syndrome

Fertility in patients with a diagnosis of Turner's syndrome confirmed by karyotype examination is a very rare phenomenon. Only in 2% of all cases the pregnancy is a result of a spontaneous ovulation and intrauterine fertilization. Due to high proportion of complications occurring in pregnancy, in labour and in puerperium, only minority of patients can expect delivering a healthy infant. Literature data indicate that 40% of patients with Turner's syndrome give birth to a healthy child. Other pregnancies are terminated either by delivering a child with congenital defect or by a spontaneous abortion. We report a case of a 26-year-old patient with Turner's syndrome (46XX/45XO) who menstruated regularly after hormonal replacement therapy. She had regular menstrual bleeding through period of two years, after withdrawal of hormones administration. In march diagnosis of pregnancy was made, as a result of a spontaneous ovulation. The healthy, full-term fetus was born in 40th week of pregnancy.     

Turner syndrome in adolescence

The management of a patient with Turner syndrome is complex and multi-faceted. It is best accomplished by an interdisciplinary approach. Initial diagnosis is generally prenatal or suggested by physical characteristics. Diagnosis should include karyotype analysis and potentially a probe for Y-chromosome centromeric material to assess the risk for the development of germ cell tumors. At the time of initial diagnosis, the patient should be thoroughly investigated for associated medical conditions. Ongoing surveillance for the development of complications is of paramount importance. The interdisciplinary team should include an endocrinologist; cardiologist; nephrologist; reproductive endocrinologist; audiological physician; ear, nose and throat surgeon; plastic surgeon; dentist; and psychologist . It is important to provide to girls and women with Turner syndrome, and their families, comprehensive information about the syndrome and to advise them about the availability of Turner syndrome societies that can provide information and support.     

Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy

Following the death in France by acute aortic dissection of two women with Turner syndrome who were pregnant following oocyte donation, the Director of the French Biomedicine Agency (Agence de la biomédecine) sent a letter to the President of the French College of Obstetricians and Gynaecologists (FCOG). He requested the College's expertise in reviewing point-by-point the cases and risk factors and in determining whether there are grounds to propose additional measures complementary to the recommendations made by the Haute autorité de santé or French National Authority for Health (HAS) in 2008 in terms of indication and monitoring of patients. A joint practice committee of the FCOG, the French Cardiologic Society, the French Chest and Cardiovascular Surgery Society, the French Society of Anaesthesia and Intensive Care, the French Endocrine Society, the French study group for oocyte donation, and the Biomedicine Agency defined the exact questions to be put to the experts, chose these experts, followed them up and drafted the synthesis of recommendations resulting from their work.The questions concerned the check-up before pregnancy of Turner patients, contraindication and acceptance of pregnancy, information for the patients, and recommendations for antenatal care, delivery and postnatal follow-up.     

Healthcare for adolescents with Turner syndrome

This review paper highlights important healthcare issues for adolescents with Turner Syndrome. Turner Syndrome potentially affects multiple organ systems including: cardiovascular, renal, endocrine, neurologic, gastrointestinal, skin, skeletal, auditory, and reproductive systems. Congenital and acquired cardiac defects remain the most significant health problem faced by women with Turner Syndrome.     

Rett syndrome and menstruation

ObjectiveDescribe the experience that girls with Rett syndrome have with menstruation including menstrual hygiene, dysmenorrhea, premenstrual syndrome (PMS), and attempts at treatment.DesignAnonymous web-based survey.SettingConvenience sample recruited from Rett syndrome LISTSERV in July of 2009.ParticipantsMothers of girls with Rett syndrome between the ages of 10–25 who have had at least one menses.Main Outcome MeasuresPrevalence, frequency, and severity of dysmenorrhea and PMS; hygiene concerns; and treatments attempts and perceived effectiveness.ResultsDysmenorrhea and PMS are common problems among young women with Rett syndrome. Despite their frequency and severity they do not routinely limit activities. Multiple treatment attempts are common. Hormonal contraception is used mostly for menstrual cycle control with oral contraceptive pills the most commonly used method.ConclusionsYoung women with Rett syndrome have standard symptoms of dysmenorrhea and PMS as well as autism spectrum specific PMS symptoms. Hormonal contraception is commonly used for menstrual management.     

月经紊乱患者的细胞遗传学分析

目的 分析原发闭经、继发闭经及月经稀发患者的染色体核型,探讨性染色体异常对性腺发育的影响。方法 将176例患者分为两组,其中82例原发闭经组,94例继发闭经及月经稀发组。每例行外周血培养,制片及G显带,并行染色体核型分析。结果 176例患者发现性染色体异常38例,异常检出率为29.6％(38/176),其中原发闭经组33例,异常检出率为40.2％(33/82);继发闭经及月经稀发组检出性染色体异常5例,异常检出率为5.3％(5/94);两组异常检出率差异有显著性(P<0.05)。性染色体异常大体上分为三大类:含Y染色体(15例),X染色体数目异常(18例),X染色体结构异常(5例),嵌合体均以45,X系为主,共10例。结论 两条完整的染色体是女性性腺发育及正常卵巢功能所必须,性染色体异常是原发闭经的主要原因之一,常规细胞遗传学检查是必要的;继发闭经及月经稀发也不应忽视此项检查。     

Autoimmune thyroiditis in children with Turner syndrome.

PURPOSE: To determine the frequency of autoimmune thyroiditis (AIT) and the risk of development of thyroid dysfunction in children with Turner syndrome. METHODS: From 1988 to 1998, 77 children with Turner syndrome were prospectively followed up at National Taiwan University Hospital. The mean (+/- standard deviation) age of these patients was 10.0 +/- 4.7 years at diagnosis of Turner syndrome and 17.4 +/- 5.2 years at the end of the present study. Antithyroglobulin antibody, antimicrosomal antibody, and thyroid function were assessed once every 6 months during the study period. RESULTS: Thyroid autoantibodies were detected in 21 of the 77 (27%) patients. The mean age at the detection of thyroid autoantibodies was 12.2 +/- 5.2 years. The cumulative frequency of AIT at 10 years after diagnosis of Turner syndrome was 36%. Both patients with a ring X chromosome developed AIT. Three of the 21 patients (14%) with AIT developed thyroid dysfunction. One patient developed hypothyroidism at the time of the detection of thyroid autoantibody. Two other patients were noted to have hyperthyroidism 0.5 and 2.5 years, after the detection of thyroid autoantibodies, respectively. CONCLUSIONS: Our data demonstrated a high frequency of AIT in Taiwanese children with Turner syndrome. Some of these patients later developed thyroid dysfunction. Hence, this study has confirmed that regular follow-up assessment of thyroid autoantibody and thyroid function in Taiwanese children with Turner syndrome regardless of their age is necessary for timely diagnosis of thyroid dysfunction and administration of appropriate treatment.     

Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins

OBJECTIVE: To provide data for pregnancies in girls with Turner syndrome. Only 5%-10% of TS girls undergo spontaneous puberty and have menses. Spontaneous pregnancy occurs in 2%-7% of TS girls and is associated with a high rate of miscarriages, stillbirths, malformations, and chromosomal aberrations. Besides fetal problems, pregnancy in TS girls is of high risk for the mothers as well. DESIGN: Case report. SETTING: Academic unit. PATIENT(S): One patient, now aged 28 years, was referred for short stature at age 13 years after an operation for coarctation of the aorta. The karyotype was 88% 45X, 5% 46XX, 5% 47XXX, 2% XO+Fr. The gonadotropin values at presentation and on follow-up ranged from high normal to high levels. Pubertal development and menses occurred spontaneously. At the age of 20 and 21 years, dominant follicles of 14 and 17 mm, respectively, were found on sonography. She conceived spontaneously at the age of 26 years and had an uneventful pregnancy, giving birth to a normal girl with normal chromosome constitution and birth weight of 2,800 g. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Pregnancy outcome. RESULT(S): Successful spontaneous pregnancy. CONCLUSION(S): Bearing in mind the serious problems of fertility and pregnancy outcome encountered in TS girls, we considered such a rare escape from the expected course of biological events to be worth reporting.     

Oocyte donation in Turner syndrome

Turner syndrome represents about 10% of the indications of oocyte donation. Pregnancy rates are as satisfactory as for other indications when endometrial preparation is sufficient. Unfortunately patients with Turner syndrome present somatic abnormalities inducing obstetrical complications and even an elevated mortality rate, in particular by aortic dissection. So, it is absolutely necessary to define with extreme precision the elements of medical check up previous to oocyte donation as well as the forms of medical care during pregnancy which would protect the patients from severe complications.     

Turner syndrome with pseudodicentric Y chromosome mosaicism

The objective was to compare the impact of gonadal cell line upon the phenotype of a Turner syndrome patient with mosaic karyotypes. A 10-year-old female presented with typical Turner syndrome. Chromosomal analysis of lymphocytes revealed 45,X (16%)/46,X,pseudodicentric Y (p terq12::q12p ter) (84%). Karyotype of the gonads revealed 45,X (85%)/46,X,pseudodicentric Y (p terq12::q12p ter) (15%). Discrepancy of the individual cell lines between the lymphocytes and the tissue might exist. The phenotype of patients with mosaicism is related with the individual proportions of gonadal cell lines.