Laboratory guideline for Turner syndrome

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Turner Syndrome and Sex Chromosomal Mosaicism

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.

Turner syndrome is one of the more common chromosome anomalies in humans and represents an important cause of short stature and.

Study record managers: refer to the Data Element Definitions if submitting registration or results information. The protein polymorphism of the growth hormone receptor characterized by the genomic deletion of exon 3 has been linked to the magnitude of the first-year-growth response to growth hormone GH in girls with Turner syndrome. Objective: to study the long-term effect of GH therapy in Turner syndrome in correlation to this GHR polymorphism in a mainly retrospective design chart-review.

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Save this study. Warning You have reached the maximum number of saved studies D3-GHR Polymorphism and Turner Syndrome The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U. Federal Government.

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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.

There is genotypic variability in patients with Turner syndrome. The phenotypic expression of the syndrome is related, in part, to the underlying genetic defect with 45X patients demonstrating a more ‘classic’ clinical phenotype with lymphedema, neck webbing and a broad shield-like chest [1].

World Health Organization site Date of registration: 07/08/ Inclusion criteria: Patients with already diagnosed Turner-Syndrome.

Hi, my name is Carrie Odom. I was born and raised in Fort Walton Beach, Florida, and have one older sister. I was diagnosed with Turner syndrome at ten years old. Here is my journey with Turner syndrome. I was born March 10th, to Mike and Debbie Fleischman, weighing 5 pounds 4 oz. My parents say I was born very sick with ear infections and pneumonia.

Turner Syndrome: Four Challenges Across the Lifespan

Objective: The Phenotypical characteristics of women with Turner’s Syndrome TS are well documented but information on their psychosocial communication is considerably poorer. Design: The purpose of the present study was to assess the aspects of sexual life in women with TS older than 18 years in Poland and to compare them with Polish women in general as well as with TS women in western European countries. Setting: Sexual attraction, initiation of sexual activity, age of sexual initiation, sensation of orgasm, reasons for not initiating sexual activity, marital status and marriage stability were analysed.

Methods: Direct questioning method. Women with TS differ from healthy Polish women is general in having a lesser interest in males, less frequent sexual activity, later initiation of sexual activity and a less frequent orgasm rate. The most frequent reason for reduced sexual activity is lack of a regular partner.

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This chromosome variation happens randomly when the baby is conceived in the womb.

D3-GHR Polymorphism and Turner Syndrome

Turner syndrome TS is a genetic condition found in females only. It affects about 1 in every 2, girls. Girls with Turner syndrome are usually shorter than their peers. The good news is that if TS is diagnosed while a girl is still growing, she can be treated with growth hormones to help her grow taller. Early loss of ovarian function means that girls with TS also are infertile can’t become pregnant. However, advances in medical technology, including hormonal therapy and in vitro fertilization, can help women with this condition.

RPC Turner syndrome and pregnancy – April – Page 1 The risk of dissection during pregnancy is unclear, but all literature cases to date Site de Sèvres.

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.

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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.

Background: Ages at first date and sexual encounter have been observed to be delayed in women with Turner’s syndrome (TS), with late presentation and.

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