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Turner Syndrome

Turner Syndrome. Presenters: Unit II Moderators: Dr Kavindele Dr Chipeta. I ntroduction. A sex chromosome abnormality in which there is complete or partial absence of one of the two sex chromosomes , producing a phenotypic female

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Turner Syndrome

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  1. Turner Syndrome Presenters: Unit II Moderators: Dr Kavindele Dr Chipeta

  2. Introduction • A sex chromosome abnormality in which there is complete or partial absence of one of the two sex chromosomes , producing a phenotypic female • Turner syndrome(TS) occurs in about 1/4000 live female births • About 50% have a 45,X karyotype and other are mosaics( eg 45,X/46,XX OR 45,X/47,XXX)

  3. Stage at diagnosis of TS • Prenatal • Birth • Childhood • Short stature • Hearing/learning • Adolescent • Short stature • 1 amenorrhoea • Adult • 2 Amenorrhoea

  4. Specific of TS • Facial Features • Low posterior hairline and webbed neck • Down slanting of the their eyes and epicanthal folds • Musculoskeletal • Micrognanthia • High arched palate • Cubitusvalgus

  5. Congenital hip dislocation in infants • Shield shaped chest • Short 4th metacarpal and metatarsal • Growth/Stature • Shortened standing height, sitting height and arm span by 3-4SD • Normal head circumference

  6. Ovarian Histology and Fertility • More than 90% of TS women have some degree of gonadal dysgenesis • By birth ovaries become fibrotic leading to a streak of ovaries and hypoplastic uterus due to lack of estrogen • A small vagina or atrophic vaginal linning may develop • However few successful pregnancies have been known to occur in TS

  7. Endocrine • Elevation of gonadotropin, follicle stimulating hormone(FSH) and luteinizing hormone • Impaired glucose tolerance • 15-30% of adults with TS develop primary hypothyroidism

  8. Ophthalmologic • Non familial strabismus • Ptosis • Ambylopia • hypermetropia • Anterior chamber abnormalities • Bilateral epicanthus

  9. Otologic • Middle ear abnormalities • Recurrent otitis media • Gastrointestinal • Feeding difficulties in infancy • Cardiovascular • Coarctation of the aorta • Biscuspid aortic valves

  10. Renal • Double collecting system • Horseshoe kidneys • Abnormal renal vascular supply • Absent kidneys • Multicystic /dysplastic kidneys

  11. Dermatologic • Increased incidence of melanocyticcutaneaous nevi • Premature aging of facial skin • Neurologic Findings & Cognitive Profile • Majority are of normal intelligence • Neurocognitive profile is similar to there peers

  12. Screening studies • Hemogram • Renal function test • Thyroid function tests • FSH/LH • Karyotyping • Insulin like growth factor 1 • Growth hormone provocation test • Ultrasound abdomen and pelvis

  13. management

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