Disease In Girls Research Articles

Incidence of metachronous contralateral mature ovarian teratoma in childhood and adolescence—a single-centre 20-year experience

BackgroundDespite complete resection of mature ovarian teratoma, there remains a risk of metachronous contralateral disease with implications for further surgery and fertility. Current estimates of this risk are wide and practice regarding surveillance varies. We aimed to identify the incidence of metachronous contralateral disease in girls presenting with unilateral mature ovarian teratoma and to describe current follow-up.MethodsRetrospective case note review was performed for all girls (< 17 years) undergoing surgery for histologically confirmed mature ovarian teratoma between 1998 and 2018. Data concerning initial hospital episode, follow-up, and further intervention were collected.ResultsForty-five girls were identified with a median age of 10 years (range 1–16). Salpingo-oophorectomy (47%) and oophorectomy (36%) were the commonest operations. Median follow-up was 2 years (range 0–16 years) with surveillance ultrasonography performed in 49%. One case of metachronous contralateral teratoma (2%) was detected at 1 year, requiring oophorectomy and ovarian tissue cryopreservation.ConclusionsThis series has demonstrated a lower incidence of metachronous contralateral mature ovarian teratoma compared to previously published data. Postoperative surveillance is variable, and the true natural history of this condition remains incompletely understood. Prospective, multicentre investigation at national or international level is required to improve the evidence upon which to base safe standards of care.

The analysis of coexistence of celiac disease and vulvar lichen sclerosus in girls.

Vulvar lichen sclerosus (VLS) is a chronic inflammatory disease of unclear etiology. Recent studies show that 15-34% of cases in adult women and 14% in girls coexist with allergies or autoimmune diseases, among others - celiac disease (CD). Most of the research on the coexistence of VLS and autoimmune diseases has been carried out on a group of adult women. Literature data on this issue are very scarce. The presented work is a pioneering project in which we tried to elucidate a possible relationship between celiac disease and lichen sclerosus in girls. The aim of the research was to study the antibodies characteristic of celiac disease in girls with VLS. The control group consisted of 35 heathy adolescent girls and the study group consisted of 20 girls aged 2-18 years old diagnosed with vulvar lichen sclerosus recruited at the Gynecological Clinic for Girls at the Women's Health Center in Katowice. There were no significant differences in the concentrations of antibodies characteristic for CD in the blood serum between the studied groups. The main limitation of our study was the small size of the study group. It is therefore legitimate to conduct further research on a larger study group to find themutual correlations between the analyzed antibodies and the onset and the course of VLS in girls. The finding of a positive correlation between the coexistence of VLS and CD may prevent potentially serious, long-term complications.

983-P: Prediabetes A1C Is Associated with Metabolic Disease in Girls with PCOS and Obesity

Polycystic Ovary Syndrome (PCOS) is associated with metabolic diseases, including diabetes, and metformin is indicated if a1c is ≥5.7 demonstrating prediabetes/diabetes. To determine when to prescribe metformin, 2018 PCOS guidelines advise only an OGTT to screen, whereas ADA guidelines also include A1c. We sought to determine patterns of dysglycemia and metabolic disease in youth with PCOS and obesity. Data from girls (age 12-21 yrs, n=110) with obesity and untreated PCOS were examined. Metabolic assessments included fasting labs, 4-hour oral sugar tolerance test (OSTT, 75 g glucose, 25 g fructose) with Oral Minimal Modeling, liver fat assessment by MRI, and endogenous glucose release (Ra) with isotope tracers (N=31) . Data were divided by A1c (&amp;lt;5.7 vs. ≥5.7%) and compared by t-test. Pearson’s correlations were used to compare A1c to metabolic variables across the cohort. Prediabetes A1c was found in 27% (n=30, A1c 5.8±0.2% vs. n=80, A1c 5.3±0.2%) . Glucose concentrations, insulin sensitivity (IS) , and obesity related measures were worse with a1c≥5.7% and correlated with increasing A1c. Lower IS and higher liver fat were most strongly correlated to a1c. There were no differences in clinical or laboratory hyperandrogenism by A1c category, nor correlation with A1c (Table) . A1c testing is less burdensome than OGTT and can identify girls with PCOS and obesity at increased metabolic disease risk who may benefit from metformin. Disclosure E.Finn: None. Y.Garcia reyes: None. A.E.Taylor: None. A.L.Garfield: None. C.A.Vivas: None. K.Fuller: None. B.C.Bergman: Research Support; Eli Lilly and Company. K.J.Nadeau: None. M.Cree-green: None. Funding National Institutes of Health (R01DK120612) , (K23DK107871) , (UL1 TR002535) , (P30 DK048520) , (K12HD057022) ;Doris Duke Foundation (CDSA) , (CDSA COVID extension) , (2015212) ; Childrens Hospital Colorado; Boettcher Web Waring Foundation

The recording and prevalence of Inflammatory bowel disease in girls' primary care medical Spanish records.

Inflammatory bowel disease (IBD) recording validation among girls in the Spanish Primary Care Database For Pharmacoepidemiological Research (BIFAP). In this observational study, girls aged 9 to 18 years registered in BIFAP between 2002 and 2016, were followed up until there was a recorded IBD diagnosis or a referral to specialist indicating IBD. Anonymized profiles were reviewed to retrieve diagnosis confirmation (a positive colonoscopy or biopsy, specialist, or physician's comments mentioning the IBD diagnosis) or discarding (negative procedure results, alternative diagnosis, or family history). "possible" IBD were profiles missing that evidence, or had suspected IBD. The prescriptions of intestinal anti-inflammatory agents, azatioprine, and mercaptopurine were collected. The prevalence of IBD was estimated after review. Out of 480 634 girls, 323 had a first ever recorded IBD, of which, 37.8% (N = 122) were "confirmed" incident IBD diagnosis, 19.8% (N = 64) discarded and 38.7% (N = 125) "possible" IBD. Additionally, 12 IBD records (3.7%) referred to prevalent IBD. Prescriptions were recorded in 94.3% (confirmed), 63.2% (possible), 83.3% (prevalent), and 3.1% (discarded) IBD cases. Prevalence was 52.83 "confirmed" or 93.58/105 girls when "possible" IBD were added. For a third of the girls, the first recorded IBD included evidence confirming the diagnosis while most of those with missing evidence had treatment indicated for IBD. For research focused in sensitivity, an algorithm including "possible" plus "confirmed" episodes is recommended, whereas only "confirmed" to guarantee higher predictive value. Prevalence suggests that IBD is not a rare disease among girls.

Awareness and impact of Lymphatic Filariasis among school children in rural endemic areas of West Bengal, India.

Lymphatic filariasis (LF) is a neglected parasitic disease of tropics and subtropics including India. Although the disease mostly affects adults, there are evidences that LF infection is often acquired during childhood. This study assessed the filarial epidemiology as well as awareness about the disease among school children in the rural areas of Bankura district, West Bengal, India. Night blood samples of 1193 school children were examined to detect microfilariae. They were examined clinically by a physician for filarial manifestations and inquired about their awareness on the disease. Microfilaria rate and disease rate among school children of the study area were assessed as 3.69% and 8.97% respectively. Only 12.74% of the school children had proper knowledge about filariasis and 72.09% had filarial patients living nearby. Among those affected children, 53.79% never received proper medical attention and 66.21% were found to be anxious about the fate of their filarial problems. School going males were found to be more affected than the females. Anxiety about the effect of the disease in girls was higher due to societal and medical ignorance among women that might develop psychological concerns. This study suggests that, in the present study area, about 12.15% population acquired filarial infection at the stage of schooling. But effort for developing awareness about filariasis among the school children is scanty, which is presumably one of the major causes of high endemicity. To rectify the situation, knowledge about mosquito and mosquito borne diseases, including LF, should be properly incorporated in school curriculum. Control measures like anti-filarial drug administration and morbidity-management can be implemented in schools by the local governments, as it should be.

Correlation between female sex, IL28B genotype, and the clinical severity of bronchiolitis in pediatric patients.

BackgroundSingle-nucleotide polymorphisms (SNPs) that impact on the differential expression of interleukin 28B (IL28B) are implicated in the progression of viral-induced diseases. In this prospective longitudinal cohort study, we evaluated the association between IL28B SNPs rs12979860 and rs8099917 and the clinical outcome of bronchiolitis in pediatric patients.MethodsA total of 682 infants suffering from bronchiolitis, categorized based on the final clinical outcome as mild or severe, were genotyped for IL28B SNPs rs12979860 and rs8099917.ResultsWhen infants were categorized exclusively based on the final clinical outcome, no association was established between IL28B SNPs and the severity of bronchiolitis. However, when stratified by sex, the homozygotes for the minor alleles of rs12979860 (T) and rs8099917 (G) were associated with a mild disease in girls but not in boys.ConclusionSNPs rs12979860 and rs8099917 correlate with the severity of bronchiolitis and display a sex bias, where GG rs8099917 and TT rs12979860 genotypes are associated with a mild disease in girls but not in boys. These findings suggest that innate immunity and female sex links with the outcome of the diseases induced by respiratory viruses, such as RSV.

Biliary Tract Disease in Girls and Young Women With Rett Syndrome.

We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of biliary tract disease in girls and women with Rett syndrome (RTT). Sixty-two individuals with RTT and biliary tract disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of biliary tract disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes of biliary tract disease in RTT. The questionnaire was completed by 271 parents whose daughters met the clinical criteria for RTT and/or had MECP2 mutations and participated in the Natural History of Rett Syndrome Study. Presenting symptoms identified by record review included abdominal pain (94%), irritability (88%), weight loss (64%), and vomiting (52%). Biliary dyskinesia, cholecystitis, and cholelithiasis were identified in 90%, 77%, and 70%, respectively, by cholescintigraphy, surgical pathology, and abdominal ultrasound. The prevalence of biliary tract disease was 4.4% (n = 12) in the RTT cohort. Risk factors included older age (P < 0.001) and a positive family history (P < 0.01). Diagnoses included cholecystitis (n = 5), biliary dyskinesia (n = 6), and cholelithiasis (n = 7). Ten individuals underwent surgery; 7 had resolution of symptoms after surgical intervention. Biliary tract disease is not unique to RTT, but may be under-recognized because of the cognitive impairment of affected individuals. Early diagnostic evaluation and intervention may improve the health and quality of life of individuals affected with RTT and biliary tract disease.

The prevalence of breast disease in girls in the city of Moscow

Preservation of reproductive health is relevant practical direction of national health care. There are presented data on the prevalence of various forms of breast pathology in girls of the various age attending preschools and schools institutions in the city of Moscow. There was executed the screening examination of 753 girls at the age of 3-17 years. Among all the examined girls the prevalence of various forms of breast pathology acounted of 190‰. The first place ranking in the structure of morbidity rate ther ewa sheld by mastalgia (46,5‰), mastopathy (45,2‰), solitary cyst (38,5 ‰) and premature isolated thelarche (25,2‰). The prevalence of breast pathology in girls of 8-17 years accounted of 216,9 ‰. According to the frequency of occurrence leading positions are occupied by: mastopathy - 65,3‰, mastalgia - 61,4‰ and solitary cyst - 53,7‰. Performed studies testify to the importance of mammography examination of girls at different ages.

Gender difference in the risk of developing diabetes mellitus type 2 and oral glucose tolerance test in dental students

Introduction: Diabetes mellitus, one of the major noncommunicable diseases, has emerged as a global societal catastrophe and is the leading cause of illness, disability, and death. The risk factors for the development of diabetes mellitus type 2 such as age, gender, and family history are nonmodifiable factors while others such as smoking, diet, physical activity, and hypertension are modifiable factors. Indian Diabetes Risk Score (IDRS) provides a useful tool to identify the people at risk of developing the disease and to target those individuals for further screening and educating them for healthy lifestyle so that the occurrence of the disease can be delayed or prevented. Materials and Methods: The present study was a cross-sectional study conducted on 102 BDS 1st year students (17 boys and 85 girls) of the age group 17–21 years. All the students were assessed for their risk to develop the disease using Indian Diabetes Risk Score (IDRS) and oral glucose tolerance test (GTT) using Glucometer (CareSens™II). Results: The study revealed that out of 102 students, 35.3% and 64.7% students were in low- and moderate-risk groups, respectively. No student belonged to the high-risk group. Percentage of girls in moderate risk was significantly higher than boys. Mean blood sugar in girls was more. Two girls were suffering from impaired fasting glucose. Seven students (6.9%) including 2 boys (11.8%) and 5 girls (5.9%) depicted flat GTT curve with all values below 100 mg/dl. Conclusion: Higher risk of disease in girls is largely due to their lack of exercise which is a modifiable factor and can thus be protected from the disease by adopting healthy lifestyle. History of the disease (nonmodifiable factor) is the risk factor in boys to be prone to the disease in their future and thus requires a regular screening and monitoring of blood sugar level.

Adolescents\u2019 perceptions and experiences of pregnancy in refugee and migrant communities on the Thailand-Myanmar border: a qualitative study

BackgroundAdolescent pregnancy remains a global health concern, contributing to 11% of all births worldwide and 23% of the overall burden of disease in girls aged 15–19 years. Premature motherhood can create a negative cycle of adverse health, economic and social outcomes for young women, their babies and families. Refugee and migrant adolescent girls might be particularly at risk due to poverty, poor education and health infrastructure, early marriage, limited access to contraception and traditional beliefs. This study aims to explore adolescents’ perceptions and experiences of pregnancy in refugee and migrant communities on the Thailand-Myanmar border.MethodsIn June 2016 qualitative data were collected in one refugee camp and one migrant clinic along the Thailand-Myanmar border by conducting 20 individual interviews with pregnant refugee and migrant adolescents and 4 focus group discussions with husbands, adolescent boys and non-pregnant girls and antenatal clinic staff. Inductive thematic analysis was used to identify codes and themes emerging from the data.ResultsStudy participants perceived adolescent pregnancy as a premature life event that could jeopardise their future. Important themes were premarital sex, forced marriage, lack of contraception, school dropout, fear of childbirth, financial insecurity, support structures and domestic violence. Supportive relationships with mothers, husbands and friends could turn this largely negative experience into a more positive one. The main underlying reasons for adolescent pregnancy were associated with traditional views and stigma on sexual and reproductive health issues, resulting in a knowledge gap on contraception and life skills necessary to negotiate sexual and reproductive choices, in particular for unmarried adolescents.ConclusionsAdolescents perceive pregnancy as a challenging life event that can be addressed by developing comprehensive adolescent-friendly sexual and reproductive health services and education in refugee and migrant communities on the Thailand-Myanmar border. Creating a more tolerant and less stigmatising environment in these communities and their governing bodies will help to achieve this goal.

Vertigo and dizziness in children: a clinical analysis of 82 cases

Objective To analyze etiology, clinical manifestation and diagnosis process of vertigo and in children. Method The clinical data of 82 children with vertigo and treated in our hospital from January 2006 to December 2016 were retrospectively analyzed. Results There were 46 girls and 36 boys with a female∶male ration of 1.28∶1. The median age of patients was 9.0 years (14 months - 18.0 years) and 21 cases were less than 6 years old. The chief complaints were repeatedly falling, crying, walking unsteadily and scratching the ear for unknown reasons. For children aged >5 years may express roof or tent rotation ; for those aged >6 - <15 years (n=34), the main complaint was more ambiguous dizziness ; for those aged ≥ 15 - ≤ 18 years (n=27) with the main complaint of dizziness may clearly express the sense of rotation or the feeling of feeling drowsy, the top-heavy sense, and the accompanying deafness, earfullness, tinnitus and so on. Among 82 cases, there were 15 cases of benign paroxysmal vertigo (BPV, 18.3%), 12 cases of secretory otitis media (SOM, 14.6%), 11 cases of vestibular migraine (VM, 13.4%), 9 cases of benign paroxysmal positional vertigo (BPPV, 11.0%), 8 cases of inner ear malformation (9.8%), 8 cases of Meniere′s disease (9.8%), 7 cases of vestibular neuritis (8.5%), 6 cases of sudden deafness with vertigo (7.3%), 4 cases of central vertigo (4.9%), 1 case of rare genetic disease (1.2%) and 1 case of vertigo due to mental psychological (1.2%). The incidence of BPV, VM and Meniere′s disease in girls was higher than that in boys. There was a tendency to self heal in BPV with the age increasing, in 15 BPV cases, 8 after 12 years of age, 3 after 14 years old had no vertigo attacks, and 4 cases were still in follow-up. The attack frequency of VM was decreased, and the extent was reduced with the age. Children older than 6 years were able to cooperate to vestibular function tests, and the majority completed the tests. Conclusion The analysis shows that the etiology of vertigo and in children is different from that of adults. Central vertigo and rare genetic disorders with as the first symptom are of great harmfulness, so intensive observation and multidisciplinary consultations are recommended. Key words: Child; Vertigo; Pathological conditions, signs and symptoms; Diagnosis; Diagnosis, differential

The characteristics of perception, awareness and formation of inner picture of disease in girls and boys

The article presents data of study of perception and awareness of disease in girls and boys. The children0specific characteristics of development of inner picture of disease are identified. The model of components of inner picture of disease of child is presented as system of factors of positive and negative impact. The structure of attitude to health is presented including cognitive, emotional and behavioral components. In ill children sexual and gender differences reaction to disease are established. These differences are manifested in that girls in a more adequate way perceive hospitalization, adapt faster to new life conditions and new life stereotype though they more often experience apprehension for future. The attributes of image of health and disease are described. In girls they are characterized by emotional attributes and in boys by instrumental activity and object-concrete attributes that condition their behavioral repertoire. In girls, the social aspect in damage of health is more significant than physiological one. In boys both aspects are of equal worth. The ideas of disease and their intellectual and emotional processing are more objective in girls. The particular issue of study became identification of intra0family relationships and relationship healthy/unhealthy children with parents and parents with children determined by specific of nosology of children. It is established that parental evaluation of attitudes to child depend on gender of parents and is related with sex of child that is related with social gender roles of males and females and not with their individual psychological characteristics. The reaction of parents to prognosis of disease passes several stages and at that behavior of mother and father differ. The mothers of ill children faster than fathers alter their attitude to developed situation and they play major role in maintaining hope for convalescence of children and assist them to adapt to new life conditions.

Incidence of new-onset autoimmune disease in girls and women with pre-existing autoimmune disease after quadrivalent human papillomavirus vaccination: a cohort study.

To assess whether quadrivalent human papillomavirus (qHPV) vaccination is associated with increased incidence of new-onset autoimmune disease in girls and women with pre-existing autoimmune disease. This register-based open cohort study included all girls and women between 10 and 30 years of age in Sweden in 2006-2012 diagnosed with at least one of 49 prespecified autoimmune diseases (n = 70 265). Incidence rate ratios were estimated for new-onset autoimmune disease within 180 days of qHPV vaccination using Poisson regression adjusting for, country of birth, parental country of birth, parental income and parental education. A total of 70 265 girls and women had at least one of the 49 predefined autoimmune diseases; 16% of these individuals received at least one dose of qHPV vaccine. In unvaccinated girls and women, 5428 new-onset autoimmune diseases were observed during 245 807 person-years at a rate of 22.1 (95% CI 21.5-22.7) new events per 1000 person-years. In vaccinated girls and women, there were 124 new events during 7848 person-years at a rate of 15.8 (95% CI 13.2-18.8) per 1000 person-years. There was no increase in the incidence of new-onset autoimmune disease associated with qHPV vaccination during the risk period; on the contrary, we found a slightly reduced risk (incidence rate ratio 0.77, 95% CI 0.65-0.93). In this nationwide study, qHPV vaccination was not associated with increased incidence of new-onset autoimmune disease in girls and women with pre-existing autoimmune disease.

Lichen sclerosus in children and adolescents

This review of lichen sclerosus in children and adolescents will discuss the disease and highlight the most recent literature. Lichen sclerosus continues to be poorly recognized and misdiagnosed by clinicians. There is growing support for an autoimmune component in the cause of this disease. Recent studies confirm that lichen sclerosus does not resolve after puberty but usually improves. In small case series, topical calcineurin inhibitors are effective as second-line therapy. Lichen sclerosus is an uncommon, poorly recognized disease in girls and adolescents and is likely to have a chronic course requiring long-term follow-up and treatment. There needs to be increased awareness among providers of this disease as a cause of vulvar itching. Because of the lack of knowledge of the natural course and treatment outcomes, prospective, multicenter studies are needed.

Sex differences in coeliac disease risk: A Swedish sibling design study

BackgroundFor unknown reasons girls are at an increased risk of coeliac disease compared to boys. However, the observed association might be confounded, since maternal coeliac disease is associated with both an increased risk of the disease in first-degree relatives as well as an increased ratio of girls to boys in offspring. AimsWe investigate the effect of sex on the risk of coeliac disease before the age of two years using sibling design. MethodsWe identified all singleton children (n=792,401) born between 1987 and 1993 in Sweden using the Swedish Medical Birth Registry. Coeliac disease cases (2264) were identified using the Swedish National Inpatient Registry. We applied both conventional population-based Cox regression models and sibling designs modelling the association in sex discordant siblings. ResultsWe observed a conclusively increased risk of coeliac disease in girls compared to boys, using both sibling design (hazard ratio 1.67, 95% confidence interval 1.44–1.93) and conventional Cox regression analysis (hazard ratio 1.75, 95% confidence interval 1.61–1.91) that could not be explained by perinatal factors previously associated with the disease. ConclusionsWe confirm that female sex is causally associated with childhood coeliac disease, but the reasons remains unknown.

Differential Gender Response to Respiratory Infections and to the Protective Effect of Breast Milk in Preterm Infants

The protective role of breastfeeding against severe acute lung disease in infants is well established, but its mechanism is unclear. Most hypotheses assume that breastfeeding confers similar passive protection to every infant; however, a few observations have suggested that the benefits of breast milk against severe lung disease may differ according to gender. The objective of this study was to determine whether the effect of breastfeeding on susceptibility to severe acute lung disease among infants at high risk is different for girls and boys. A cohort was analyzed prospectively by use of 2 different strategies: (1) predictors of first episode of rehospitalization by univariate and multivariate analyses using robust Poisson regression and (2) mean number of rehospitalizations between groups using multiple regression negative binomial models. A total of 119 high-risk, very low birth weight infants were enrolled. Breast milk protected girls but not boys against severe acute lung disease. The interaction between breastfeeding and gender was clinically and statistically significant, even after adjustment for variables that can affect severity of acute lung disease. Disease was most severe in formula-fed girls (versus formula-fed boys). Breastfeeding decreased the risk for severe acute lung disease in girls but not in boys. These findings suggest that breast milk protection is not universally conferred by passive transfer of humoral immunity (which should be gender indifferent), show that respiratory symptoms may be amenable to nonspecific modulation, and identify nonbreastfed preterm infant girls as an at-risk group for severe acute lung disease.

Aortic Valve Disease in Turner Syndrome

Our goal was to determine the prevalence and characteristics of aortic valve disease in girls and women with monosomy for the X chromosome, or Turner syndrome (TS). Complications from congenital aortic valve disease are a major source of premature mortality in TS, but accurate data on the prevalence of aortic valve abnormalities and their association with aortic root dilation are not available. This prospective study characterized the aortic valve and proximal aorta in 253 individuals with TS age 7 to 67 years using transthoracic echocardiography as our primary screening tool, supplemented with magnetic resonance imaging. Transthoracic echocardiography revealed a normal tricuspid aortic valve (TAV) in 172 and a bicuspid aortic valve (BAV) in 66 subjects. Transthoracic echocardiography could not visualize the aortic valve in 15 of 253 or 6%. Magnetic resonance imaging diagnosed 12 of 15 of these cases (8 BAV and 4 TAV), so that only 3 of 253 (1.2%) could not be visualized by either modality. The aortic valve was bicuspid in 74 of 250 (30%) adequately imaged subjects. The prevalence was equal in pediatric (<18 years, n = 89) and adult populations. Over 95% of abnormal aortic valves in TS resulted from fusion of the right and left coronary leaflets. Ascending aortic diameters were significantly greater at the annulus, sinuses, sinotubular junction, and ascending aorta in the BAV group, with aortic root dilation in 25% of subjects with BAV versus 5% of those with TAV. Girls and women with TS need focused screening of the aortic valve and root to identify the many asymptomatic individuals with abnormal valvular structure and/or aortic root dilation.

Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome

BackgroundA disturbance in the immune system has been described in Turner syndrome (45,X), with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X), thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite.Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency) ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies.Blood samples from 110 Turner patients (7–65 years) were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17α-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase).ResultsThe autoantibodies investigated were not overrepresented among the Turner patients.ConclusionThe autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome.

A brief history of Pelizaeus–Merzbacher disease and proteolipid protein

In 1885, Pelizaeus [1] described the clinical findings in his five patients in meticulous detail, and, in retrospect, little doubt exists about X-linked recessive inheritance of the disease. He observed that all patients were males and sons of healthy sisters. The children of the brothers in the same generation were normal. Pelizaeus cited the saying in the family that the bdisease goes through the mother but does not do anything to her.Q The cases reported in 1910 by Merzbacher [2] belonged to the same family, although the author at first did not realize this relationship. Merzbacher illustrated the pedigree that displayed two sisters with the same illness. He also provided the first autopsy study of the disease in a man and confirmed it as a disease of the white matter, as predicted by Pelizaeus [1]. The occurrence of the disease in girls and women was unusual, but, in 1928, Liebers [3] performed a brain autopsy on one of these female patients, and the lesion was identical to that in the male reported in 1910. The tigroid appearance of the white matter due to alternating loss and retention of myelin

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease in girls and women. A "European Community Alport Syndrome Concerted Action" (ECASCA) group was established to delineate the Alport syndrome phenotype in each gender and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X-linked transmission, were collected. Characteristics of heterozygous girls and women belonging to the 195 families with proven COL4A5 mutation are compared with those of hemizygous boys and men. Hematuria was observed in 95% of carriers and consistently absent in the others. Proteinuria, hearing loss, and ocular defects developed in 75%, 28%, and 15%, respectively. The probability of developing end-stage renal disease or deafness before the age of 40 yr was 12% and 10%, respectively, in girls and women versus 90 and 80%, respectively, in boys and men. The risk of progression to end-stage renal disease appears to increase after the age of 60 yr in women. Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot. Risk factors for developing renal failure have been identified: the occurrence and progressive increase in proteinuria, and the development of a hearing defect.