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26-37: Turner Syndrome (Gonadal Dysgenesis)

Paul A. Fitzgerald

ESSENTIALS OF DIAGNOSIS

ESSENTIALS OF DIAGNOSIS

  • Short stature with normal GH levels.

  • Primary amenorrhea or early ovarian failure.

  • Epicanthal folds, webbed neck, short fourth metacarpals.

  • Renal and cardiovascular anomalies.

Turner syndrome comprises a group of X chromosome disorders that are associated with spontaneous abortion, primary hypogonadism, short stature, and other phenotypic anomalies (Table 26–16). It affects 1–2% of fetuses, of which about 97% abort, accounting for about 10% of all spontaneous abortions. Nevertheless, it affects about 1 in every 2500 live female births. Patients with the classic syndrome (about 50% of cases) lack one of the two X chromosomes (45,XO karyotype). About 12% of patients harbor mosaicism for Y chromosome sequences. Other patients with Turner syndrome have X chromosome abnormalities, such as ring X or Xq (X/abnormal X) or X chromosome deletions affecting all or some somatic cells (mosaicism, XX/XO).

Table 26–16.Manifestations of Turner syndrome.
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Table 26–16. Manifestations of Turner syndrome.
Affected Systems Symptom, Sign, or Condition
Head and neck features

High-arched palate (35%)

Low posterior hairline (40%)

Micrognathia (60%)

Pterygium colli (webbed neck 40%)
Eye abnormalities

Cataracts, corneal opacities

Epicanthal folds (20%)

Strabismus (15%)

Ptosis (10%)
Ear abnormalities

Conductive hearing loss (30%) and recurrent otitis media (60%)

Low-set and posteriorly rotated ears
Cardiovascular anomalies

Aortic dilation or aneurysm (25% with bicuspid aortic valve)

Bicuspid aortic valve (30%) with aortic stenosis or regurgitation

Coarctation (14%) and cystic medial necrosis of aorta

Hypertension (50%, idiopathic or due to coarctation or kidney disease)

Partial anomalous pulmonary venous return (18%)
GI disorders

Achlorhydria

Celiac disease (8%)

Colon carcinoma

Hepatic transaminases, elevated (65%)

IBD (3%)

Telangiectasias with bleeding
Kidney abnormalities (60%) Horseshoe kidney (10%), duplication or abnormal positioning of renal pelvis or ureters (15%)
Gonadal abnormalities Gonadal dysgenesis (primary amenorrhea 80%) or early ovarian failure (20%)
Skeletal and extremity abnormalities

Short stature (98%)

Broad (shield) chest (30%) with wide-spaced hypoplastic nipples

Cubitus valgus of arms (50%) and knock knees (35%)

Lymphedema of hands and feet (30%)

Madelung wrist deformity (5%)

Osteopenia (65%)

Scoliosis (10%)

Short fourth metacarpals (40%)
CNS disorders

Emotional immaturity (40%)

Learning disabilities and ADHD (40%)

Sensorineural hearing loss
Skin and nail disorders

Hyperconvex nails

Keloid formation

Pigmented nevi
Associated conditions

Autoimmune (Hashimoto) thyroiditis (37%)

Diabetes mellitus (10%) or glucose intolerance (35%)

Dyslipidemia

Hyperuricemia

Neuroblastoma (1%)

Obesity

Rheumatoid arthritis

ADHD, attention-deficit/hyperactivity disorder.

1. CLASSIC TURNER SYNDROME (45,XO GONADAL DYSGENESIS)

Clinical Findings

A. Symptoms and Signs

Features of Turner syndrome are variable and may be subtle in girls with mosaicism. Turner syndrome may be diagnosed in infant girls at birth, since they tend to be small and may exhibit severe lymphedema. Evaluation for childhood short stature often leads to the diagnosis. Girls and women with Turner syndrome have an increased risk of aortic coarctation and bicuspid aortic valves; these ...

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