Turner syndrome

Turner syndrome

1. Turner syndrome

2. Proportionate Disproportionate Short Stature Limb deformity, malformation Measure Height, Span upper segment/lower segment No Limb deformity, malformation Height = Span upper segment/lower segment = 1

3. Evaluation Normal variant (FSS & CSS) Prenatal (PT & IUGR & genetic) postnatal (Ch. illness & endocrine) DD

4. Clinical features neonate IUGR Neck webbing Protruding ears Lymphedema Phenotypically normal Older child Short stature variable dysmorphic features Increased carrying angle of elbow Madelung deformity ( chondrodysplasia of distal radial epiphysis) Widespread nipples Shield chest Low posterior hairline Gonadal dysgenesis Infertility primary amenorrhea lack of secondary sex characters

5. Genetics X chromosome monosomy X chromosome mosaicism X chromosome defects Turner syndrome is a condition characterized by complete or partial monosomy of the X chromosome and defined by a combination of phenotypic features 1/2,500-1/5,000 of females

6. Associated comorbidity Turner syndrome Congenital heart ( 40%) Lf sided anomaly ( Coarctation of aorta Bicuspid A. valve, LHHS) Conduction defects Renal anomalies (60%) Horseshoe kidneys Skeletal deformity Patella dislocation Cong hip dislocation Scoliosis Psychological & Learning disabilities nonverbal motor and visuospatial skills ) (70 %) Developmental delay (10%) GIT disorders IBD Celiac disease Endocrinal disorders Hypothyroidism (15-30 %) Type 2 diabetes mellitus (insulin resistance) Eye disorders Strabismus Cataracts Red-green color blindness Ear disorders Recurrent OM Sensorineural HL

7. Diagnosis . Karyotyping Fetal ultrasonography: Turner syndrome is suggested by the presence of nuchal cystic hygroma , horseshoe kidney, left-sided cardiac anomalies, or nonimmune fetal hydrops Amniocentesis or chorionic villous sampling Abdominal U/s for gonadal dysgenesis Buccal smear for Barr bodies is obsolete NB:

8. Laboratory studies Gonadotropins : Both LH and FSH Thyroid function tests : every 1-2 years Screening for DM by hemoglobin A1c or fasting glucose level Renal studies : ultrasonography. (Annual urine cultures and BUN, creatinine if renal anomalies) Cardiovascular studies: echocardiography and/or MRI (4-limb blood pressures, because of high incidence of coarctation of the aorta) Audiology: hearing assessment at age 1 year and before entering school then re-evaluation every 5 years Screen for celiac disease tumor surveillance is recommended. FISH analysis to look for Y-chromosome mosaicism

9. Treatment Growth hormone therapy Estrogen replacement therapy Cardiac surgery (when needed) Psychological support Follow up for associated comorbidity If Y chromosome material is identified, laparoscopic gonadectomy is recommended.

10. Sex hormone replacement therapy Estrogen replacement therapy Estrogen is usually started at age 12-15 years Continuous low-dose estrogens can be cycled in a 3-weeks on, 1-week off regimen. After 6-18 months; progestin can be added later

11. Consultations Endocrinologist Cardiologist Nephrologist or urologist Psychologist Genetics

12. Prognosis Overall prognosis for Turner syndrome is good. Even with growth hormone therapy, most individuals are shorter than average. Turner syndrome is not a cause of mental retardation. Life expectancy is slightly shorter but can be improved by attention to associated chronic illnesses. Most individuals are infertile