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Presenters: Unit II Moderators: Dr Kavindele Dr Chipeta

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1 Presenters: Unit II Moderators: Dr Kavindele Dr Chipeta
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 1 amenorrhoea Adult 2 Amenorrhoea

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

5 Growth/Stature 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 Gastrointestinal Cardiovascular 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 Neurologic Findings & Cognitive Profile
Dermatologic Increased incidence of melanocytic cutaneaous 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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