Turner syndrome is a genetic condition characterized by complete or partial monosomy of the X chromosome, affecting about 1 in 2,500-5,000 females. Clinical features include short stature, neck webbing, protruding ears, and gonadal dysgenesis leading to infertility. It is diagnosed through karyotyping and fetal ultrasound may suggest it. Treatment involves growth hormone therapy, estrogen replacement, and managing associated conditions such as hypothyroidism, diabetes, and heart problems. Prognosis is generally good with treatment, though individuals are often shorter and infertile.

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

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
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Buccal smear for Barr bodies is obsolete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