Turner Syndrome

Presenters: Unit IIModerators: Dr Kavindele

Dr Chipeta

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)

Stage at diagnosis of TS

• Prenatal• Birth• Childhood

• Short stature• Hearing/learning

• Adolescent• Short stature• 1 amenorrhoea

• Adult• 2 Amenorrhoea

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• Cubitus valgus

• 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

• 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

• Endocrine• Elevation of gonadotropin, follicle stimulating

hormone(FSH) and luteinizing hormone• Impaired glucose tolerance • 15-30% of adults with TS develop primary

hypothyroidism

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

• Otologic• Middle ear abnormalities• Recurrent otitis media

• Gastrointestinal• Feeding difficulties in infancy

• Cardiovascular• Coarctation of the aorta• Biscuspid aortic valves

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

• 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

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

management