Differentials
Constitutional delay of growth and development
SIGNS / SYMPTOMS
Short girls aged 12 to 15 years may have pubertal delay due to the benign condition known as constitutional delay.
No associated dysmorphic features or congenital defects.
INVESTIGATIONS
A clinical diagnosis primarily, and investigations are typically negative.
Follicle-stimulating hormone is not elevated and anti-Müllerian hormone is not low.
Bone age is slightly delayed.
Cytogenetic testing is required rarely and is normal.
Noonan syndrome
SIGNS / SYMPTOMS
Distinguishing features are hypertrophic cardiomyopathy and pulmonic stenosis, triangular facies, prominent chest wall deformity, and possible intellectual disability, which are not common in Turner syndrome.
Can occur in phenotypic males and females. Autosomal disorder.
INVESTIGATIONS
Normal karyotype.
Several genes have been implicated in this autosomal dominant disorder.
46,XX gonadal dysgenesis
SIGNS / SYMPTOMS
Unknown genetic defects in ovarian development.
Present with primary amenorrhea.
No dysmorphic features typical of Turner syndrome.
No short stature or congenital heart defects.
INVESTIGATIONS
Karyotype is normal female 46,XX.
Elevated follicle-stimulating hormone and low anti-Müllerian hormone.
46,XY complete gonadal dysgenesis
SIGNS / SYMPTOMS
Genetic defect in testis development.
Present with primary amenorrhea.
No dysmorphic features.
No short stature or congenital heart defects.
INVESTIGATIONS
Karyotype is 46,XY.
Elevated follicle-stimulating hormone and luteinising hormone.
Complete androgen insensitivity
SIGNS / SYMPTOMS
Genetic defect in androgen receptor.
Present with primary amenorrhea. No uterus.
No pubic hair, dysmorphic features.
No short stature or congenital heart defects.
INVESTIGATIONS
Karyotype is 46,XY.
Elevated testosterone level.
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