Uterine maturity is associated with oestrogen use and history of spontaneous menarche. It is crucial for maintaining good bone and cardiovascular integrity. Oestrogen replacement therapy to promote development of secondary sexual characteristics. Treatment : Directed to minimize symptoms. While the vast majority of fetuses abort in the second trimester, some may have long life expectancy.
Prognosis is variable and depends on associated anomalies. On sonography, uterus and ovaries may appear streaky. Īssociations: Hypertension, glucose intolerance, inflammatory bowel disease, Hashimoto thyroiditis and ovarian dysgenesis.Īntenatal serological markers: Serum AFP is decreased, beta HCG and serum inhibinĪntenatal ultrasound may reveal cystic hygroma - typically septated, increased nuchal thickness, increased nuchal translucency, coarctation of the aorta, bicuspid aortic valve, horseshoe kidney / pelvic kidney, IUGR, short fetal limbs and hydrops fetalis (due to lymphatic failure).įindings in adulthood include scoliosis, short 4th metacarpal (positive metacarpal sign), narrowed scapho-lunate angle (positive carpal sign), abnormal medial femoral condyle, Madelung deformity, short stature, webbed neck, cubitus valgus, hypoplasia of atlas or odontoid, thin clavicles and ribs, osteoporosis of spine and delayed epiphyseal fusion. Turner syndrome manifests itself differently in each woman, therefore, no two individuals will share the same features. Patients may present with short stature, lymphoedema of the hands and feet, shield chest with widely spaced nipples, low hairline, low-set ears, infertility, obesity, small finger nails, prominent epicanthal folds, micrognathia, high arched palate, pigmented moles, visual impairments (glaucoma), hearing loss, high waist-to-hip ratio and nonverbal learning disability. 5).Ĭlinically Turner syndrome accounts for 1/3rd cases of primary amenorrhoea.
Our patient was referred for chromosomal analysis that revealed 45XO karyotype, thus confirming the diagnosis (Fig. Partial monosomy: Structurally altered X chromosome Unlike other trisomies, there is no correlation with maternal age.Įven though it is relatively common, almost all 45 XO fetuses will spontaneously abort.Ģ. Turner syndrome is totally or partially lacking one. Cases are mostly sporadic and occur due to non-disjunction of reproductive cells. Turner syndrome is the most common sex chromosome aberration in women. It is characterized by the presence of a single normal functioning X chromosome. It was first described as a distinct entity in 1938, by Henry Turner, in seven female patients with sexual infantilism, webbed neck and cubitus valgus. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.Turner syndrome is an X chromosomal disorder with variable karyotypic abnormalities and protean clinical manifestations in females. Abdominal ultrasonographic imaging revealed a horseshoe kidney and a 17.0 X 4.7 mm right ovary that contained a 6.8 X 3.0 mm anechoic cyst. Hormone replacement can help start sexual development. Her clinical findings were short stature, webbed neck, flat nasal bridge, widely spaced nipples, dark brown nevi, cubitus valgus, and edema of the hands and feet. Individuals with Turner syndrome also have an increased incidence of anomalies of the heart and large blood vessels.
Webbed neck turner syndrome skin#
Growth hormone often helps girls reach heights that are close to average. Clinically, patients with Turner syndrome are short, and they have a small chin, prominent folds of skin at the inner corners of the eyes (epicanthal folds), low-set ears, a webbed neck, and a shieldlike chest. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Sometimes it is found in prenatal testing. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.ĭoctors diagnose Turner syndrome based on symptoms and a genetic test. Most women with Turner syndrome are infertile.
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