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Turner syndrome: mechanisms and management
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and type 2 diabetes mellitus, osteoporosis and autoimmune disorders. Morbidity and mortality are increased in women with Turner syndrome compared with the general population and the involvement of multiple organs through all stages of life necessitates a multidisciplinary approach to care. Despite an often conspicuous phenotype, the diagnostic delay can be substantial and the average age at diagnosis is around 15 years of age. However, numerous important clinical advances have been achieved, covering all specialty fields involved in the care of girls and women with Turner syndrome. Here, we present an updated Review of Turner syndrome, covering advances in genetic and genomic mechanisms of disease, associated disorders and multidisciplinary approaches to patient management, including growth hormone therapy and hormone replacement therapy.
Journal Article
Growth Hormone plus Childhood Low-Dose Estrogen in Turner's Syndrome
This trial randomly assigned girls 5 to 12.5 years of age with Turner's syndrome to receive growth hormone, low-dose estrogen, neither, or both. Growth hormone increased adult height. Combining ultra-low-dose estrogen with growth hormone during childhood may optimize growth.
Turner's syndrome, which results from partial or complete X-chromosome monosomy, occurs in about 1 in 2000 live female births
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and encompasses diverse clinical features, including short stature, ovarian dysgenesis, and neurocognitive problems.
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The marked short stature in Turner's syndrome (an average, untreated adult height 20 cm below that of the general female population
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,
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) can be ameliorated by treatment with recombinant human growth hormone. Although there is substantial evidence that growth hormone treatment increases adult stature in patients with Turner's syndrome,
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–
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data from randomized, double-blind, placebo-controlled studies have been lacking.
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Ovarian failure, the second major problem associated with . . .
Journal Article
Correction: Variation in early number skills and mathematics achievement: Implications from cognitive profiles of children with or without Turner syndrome
[This corrects the article DOI: 10.1371/journal.pone.0239224.].
Journal Article
Rick Turner's Politics as the Art of the Impossible
Revisits the work of Rick Turner, a South African political theorist, and addresses contemporary debates Rick Turner was a South African academic and anti-apartheid activist who rebelled against the apartheid state at the height of its power. For this he was assassinated in 1978, at just 32 years of age, but his life and work are testimony to the power of philosophical thinking for humans everywhere. Turner chose to live freely in an unfree time and argued for a non-racial, socialist future in a context where this seemed unimaginable.This book takes seriously Rick Turner's challenge that political theorising requires thinking in a utopian way. Turner's seminal book The Eye of the Need: Towards a Participatory Democracy laid out some of his most potent ideas on a radically different political and economic system. His demand was that we work to escape the limiting ideas of the present, carefully design a just future based on shared human values, and act to make it a reality, both politically and in our daily lives.The contributors to this volume engage critically with Turner's work on race relations, his relationship with Steve Biko, his views on religion, education and gender oppression, his participatory model of democracy, and his critique of enduring forms of poverty and economic inequality. They show how, in his life and work, Turner modeled how we can dare to be free and how hope can return, as the future always remains open to human construction. This book makes an important contribution to contemporary thinking and activism where the need for South Africans to define their understanding of their greater common good is of crucial importance.
eBook
J.M.W. Turner
J.M.W. Turner started making money for his art when he was just 12 years old! This famous British artist was known for many things, including his landscapes, watercolors, and prints. However, hes best known for his use of colors. He was even known as the painter of light. Readers discover these and many other facts about Turner through engaging text and detailed sidebars. Examples of Turners artwork cover each page, allowing readers to see his most famous paintings as they read about the history and techniques behind each work of art.
Book
First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome
Abstract PurposeTo report the case of a young woman diagnosed with Turner syndrome (TS) who achieved a live birth using her own oocytes that had been vitrified for fertility preservation.MethodsA 25-year-old woman with mosaic (45,X/46,XX) TS was referred for fertility preservation (FP) counseling. Serum anti-Müllerian hormone (AMH) level was normal (6.4 µg/L). In view of the unpredictable rate of follicle loss in TS individuals, she requested FP and underwent two cycles of ovarian stimulation (OS) for oocyte cryopreservation (OoC) using a GnRH antagonist protocol and recombinant follicle stimulating hormone (rFSH), 200–250 IU daily for 8 resp. 12 days.ResultsIn total, 29 metaphase II oocytes (MII) were vitrified after OS. After conceiving spontaneously and achieving a live birth, she returned to the clinic five years after OoC with a desire for pregnancy using in vitro fertilization (IVF) of her cryopreserved oocytes and preimplantation genetic testing (PGT-A). All 29 MII oocytes were thawed; 23 oocytes survived (79.3%) and were inseminated with partner sperm using intracytoplasmic sperm injection (ICSI). Thirteen oocytes were fertilized resulting in three good quality blastocysts which were vitrified after trophectoderm biopsy for PGT-A using array-CGH. Two blastocysts were found to be euploid. One was thawed and transferred to the uterus using a HRT priming protocol. An uneventful pregnancy occurred. The patient delivered a healthy baby girl weighing 3490 g at 40 weeks of gestation.ConclusionsWe report the first live birth achieved using cryopreserved oocytes in a woman diagnosed with mosaic TS. Cryopreservation of oocytes after ovarian stimulation is a realistic option for FP in selected post menarche individuals with mosaic TS. Whether PGT-A may reduce the risk of pregnancy loss in TS has to be confirmed by further studies.
Journal Article