Turner Syndrome (Gonadal Dysgenesis)

Short stature with normal growth hormone levels

Primary amenorrhea or early ovarian failure

Epicanthal folds, webbed neck, short fourth metacarpals

Renal and cardiovascular anomalies

Incidence: 1 in 2500 live female births

Diagnosis suspected: at birth, small newborns, often with lymphedema; in childhood, short stature

Features variable and may be subtle if mosaicism

Short stature

Webbed neck

High-arched palate

Short fourth metacarpals

Wide-spaced nipples

Hypertension

Kidney abnormalities

Coarctation of aorta

Hypogonadism presents as delayed adolescence (80%) or early ovarian failure (20%)

Adults with Turner syndrome have a high incidence of ECG abnormalities

Emotional disorders

Serum FSH and LH levels elevated

Karyotype shows 45,XO (or X chromosome abnormalities, or mosaicism)

Serum growth hormone and IGF-I levels normal

Yearly physical examinations and periodic thyroid, lipid, and glucose testing recommended

Annual surveillance should include

• Blood pressure determination

• Laboratory evaluations, including a serum TSH, liver enzymes, BUN, creatinine, and fasting serum lipids and glucose

Celiac disease screening (serum TTG IgA Ab) is warranted every 2-5 years for school-age girls and then whenever indicated clinically

Audiology exams are recommended every 1–5 years

Bone mineral densitometries should be measured periodically for women over age 18 years

Patients with aortic root enlargement are usually treated with beta-blockade and serial imaging

During pregnancy, women with Turner syndrome have a 2% risk of aortic dissection or rupture, so they require close monitoring with repeated echocardiography