It is the best journal to keep up to date with endocrine pathophysiology both in the clinical and in the research field. It publishes the best original articles of large research institutions, as well as prestigious reviews. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome.. A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey..
The recommendations R are worded as recommend strong recommendation and suggest weak recommendation. We formally graded only the evidence underlying recommendations for therapeutic choices. We recommend initiating growth hormone GH treatment early around 4—6 years of age, and preferably before 12—13 years in the following circumstances: the child already has evidence of growth failure e.
We suggest concomitant treatment with oxandrolone from the age of 10 years or older at 0. We suggest that women with a history of AoD should be advised against pregnancy. We suggest that in case of an acute ascending AoD before the fetus is viable, to perform emergency aortic surgery understanding that fetal viability may be at risk.
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My parents were of normal child-bearing age. My dad was 27, my mom was There was no reason to believe that they would give birth to a daughter with Turn The three most important dates in my life are April 26, , January 9, and March 17, April 26th was the day my husband Michael asked me to marry him. January 9th was the day we became husband and wife, and we became a family of three and welcomed our beaut
Turner syndrome is a disorder that has distinct clinical features and has karyotypic aberrations with loss of critical regions of the X chromosome. Several clinical.
Y chromosome in Turner syndrome: review of the literature. I BSc. Address for correspondence. Turner syndrome TS is one of the most common types of aneuploidy among humans, and is present in newborns with female phenotype. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma.
The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions. Key words: Turner syndrome.
Chromosomes human Y. Sex cord-gonadal stromal tumors. Genes, sry.
Turner Syndrome: Four Challenges Across the Lifespan
Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in Date of first submission: February 6,
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Wilson-Turner syndrome WTS is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Prevalence of WTS is not known. The syndrome has been described in two families to date: 14 males in the 3 most recent generations of the first family, and 7 males and 7 females in a 5-generation Dutch family. Affected males were described as having severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature in the second family , small hands and feet, tapering fingers and facial dysmorphism including a small head, short ears, prominent supraorbital ridges, deep-set eyes, high malae, broad nasal tip, thin upper vermillion, and retrognathia.
In obligate female carriers in the second family, a milder phenotype including learning disorders and recognizable facial features was reported. Differences between the two described families are small, but there is a possibility that they represent different clinical entities. The syndrome has been linked to a mutation in the consensus donor splice site of the histonedeacetylase 8 HDAC8 gene Xq X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported.
Other search option s Alphabetical list.
Laboratory guideline for Turner syndrome
Turner syndrome is the most common genetic disorder affecting females, with an incidence of one case in liveborn girls. The condition is defined by an abnormal genotype where there is absence of all or part of the second sex chromosome in most cells. While Turner syndrome is associated with diverse clinical features, it is the cardiac manifestations that carry the greatest morbidity and mortality [1,2].
This review will summarize the current state of knowledge of the cardiovascular pathology present in Turner syndrome and outline recommendations for cardiac care from birth through to adulthood.
I am a 40 year-old with TS and dating has always been difficult for me. I have had three serious relationships. It’s so awkward to have to tell the.
Context: Pediatric management of patients with Turner syndrome focuses on height, frequently resulting in a delay of pubertal induction. The influence of pubertal management on psychosocial adjustment and sex life has not been evaluated in Turner syndrome patients. Objective: The objective of the study was to identify the determinants of self-esteem, social adjustment, and initiation of sex life in patients with Turner syndrome, particularly those related to pubertal management.
Design: This was a prospective evaluation, the StaTur study. Setting: The study was conducted with a population-based registry of GH-treated patients. Participants: Participants included young adult women with Turner syndrome, aged Results: Low self-esteem was associated with otological involvement and limited sexual experience. Low social adjustment was associated with lower paternal socioeconomic class and an absence of sexual experience.
Late age at first kiss or date was associated with cardiac involvement and a lack of spontaneous pubertal development. Age at first sexual intercourse was related to age at puberty and paternal socioeconomic class. Delayed induction of puberty had a long-lasting effect on sex life. Height and height gain due to GH treatment had no effect on outcomes. Therapeutic interventions altering normal pubertal development in other groups of patients should be reconsidered in light of these findings.
The principal features of Turner syndrome are short stature, dysfunctional gonads, cardiac and renal malformations, otological problems leading to hearing impairment, and dysmorphic features of various severities.
Dating sites for asperger syndrome
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Turner syndrome is the most common genetic disorder affecting females, with an To date, the genes responsible for cardiac defects seen in Turner syndrome.
I am a 40 year-old with TS and dating has always been difficult for me. I have had three serious relationships. It’s so awkward to have to tell the person I am dating that I have TS. And the whole infertility issue. I haven’t dated in over six years, when my last boyfriend dumped me over e-mail. I am okay with not having kids. I am highly educated. Edited August 10, at pm. Dating has always been difficult for me as well – and I’ve been married.
As for telling people you’re dating you have TS, you should do it when things look like they’re getting serious, but not first or second date.