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