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- A chromosomal disorder involving a complete or partial absence of the second sex chromosome in phenotypic females, with characteristic features such as short stature and premature ovarian failure.
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Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. A girl with Turner syndrome only has 1 normal X sex chromosome, rather than the usual 2. This chromosome variation happens randomly when the baby is conceived in the womb.
- Introduction
- Aetiology
- Clinical Features
- Differential Diagnoses
- Investigations
- Diagnosis
- Complications
- Key Points
- References
Turner syndrome is a chromosomal disorder affectingfemales. It has a wide phenotypic manifestation, including short stature andunderdeveloped ovaries. Females with Turner syndrome are born with onlyone X chromosome instead of the usual two X chromosomes. Turner syndrome occurs in 1 in 2000 baby girls.1
The X and Y chromosomes are the sex chromosomes, with females having XX sex chromosomes and males having XY sex chromosomes. In Turner syndrome,one X chromosome is missing, so the genotype is referred to as 45XO or monosomy X. This is most commonly caused by a non-disjunction mutation when a pair of chromosomes fail to separate during meiosis. It i...
A diagnosis of Turner syndrome should be suspected in any girl withshort stature or delayed puberty.2
Noonan syndromeis the main differential diagnosis to consider in the context of suspected Turner syndrome. This genetic disorder also presents with short stature, wide neck and associated cardiovascular defects. However, Noonan syndrome is caused by an autosomal dominant mutation of the PTPN11 gene, and it can affect males or females.5 Other import...
Bedside investigations
Relevant bedside investigations include:1,3 1. Blood pressure: there may be hypertension secondary to cardiovascular or renal disease 2. Growth assessment: height and weight should be plotted on a growth chart so the response to growth hormone therapy can be monitored over time 3. Urine dip: assesses for complications of renal tract abnormalities such as a urinary tract infection(raised leukocyte esterase and nitrites will be seen)
Laboratory investigations
Relevant laboratory investigations include:1,3 1. Karyotyping: chromosomal analysis will identify the 45XO mutation 2. Blood tests to screen for autoimmune complications: thyroid function tests(hypothyroidism), blood sugar (type one diabetes), anti-TTG and IgA to screen (coeliac disease) 3. Hormone tests: FSH, LH and oestrogen to identify primary hypogonadism secondary to ovarian dysgenesis (high FSH and LH and low oestrogen will be seen) 4. Metabolic profile: fasting glucose and cholesterol...
Imaging
Relevantimaging investigations include:1.3 1. Echocardiogram: screen for bicuspid aortic valve and aortic coarctation. Further imaging including cardiac MRI may be required 2. Renal tract ultrasound: identify structural abnormalities of the renal tract 3. Pelvic ultrasound: used to check for the presence of the uterus which will affect decisions regarding pregnancy in the future 4. DEXA scan: to identify osteoporosis
Turner Syndrome is diagnosed via karyotyping, which shows a missing X chromosome. Karyotyping is usually performed after a detailed history and examination. Most commonly, Turner syndrome is diagnosed in late childhood, but Turner syndrome may be suspected on prenatal ultrasound scans when the following are seen:1 1. Horseshoe kidney 2. Aortic coar...
Complications of Turner syndrome include:1,2 1. Autoimmune diseases: hypothyroidism, type one diabetes mellitus and coeliac disease 2. Recurrent otitis media and glue ear: may lead to a conductive hearing loss 3. Increased risk of urinary tract infection: due to structural abnormalities of the urinary tract 4. Osteoporosis secondary to low oestroge...
Turner syndrome is a chromosomal disorder affecting females where one X chromosome is missingThe classical features of Turner syndrome areshort stature and delayed pubertyTurner syndrome has systemic manifestationsin the renal tract (e.g. horseshoe kidney) and the cardiovascular system (e.g. aortic coarctation)Theclassical stigmataof Turner syndrome are a webbed neck, wide space nipples and a wide carrying angleUpToDate. Clinical manifestations and diagnosis of Turner syndrome. Published in 2022. Available from: [LINK]Patient.info. Turner syndrome. Published 2021. Available from: [LINK]BMJ Best Practice. Turner’s syndrome. Published 2021. Available from: [LINK]NHS Health. Turner syndrome. Published 2021. Available from: [LINK]- Eleanor Bryant
Feb 11, 2022 · Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
Girls with Turner syndrome also have distinctive features and associated health conditions, some of which may be apparent from birth. They may be born with swollen hands and feet, caused by a build-up of excess fluid (lymphoedema) in the surrounding tissues, but this usually clears soon after birth.
May 15, 2024 · Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology.
Sep 18, 2023 · Summary. Turner syndrome has characteristic clinical features which include short stature and premature ovarian failure in a phenotypic female. Variable phenotype; obvious stigmata such as neck webbing affect only 20% to 30% of patients.
