Turner syndrome

233 Turner syndrome



Instruction


Look at this patient.



Salient features



Examination




• Webbing of the neck in a female patient


• Abnormal angulation of both elbows: increased carrying angle (cubitus valgus; Fig. 233.1)


• Dwarfism


• Receding chin


• Low-set ears


• Epicanthal folds, double eyelashes, strabismus occurs in 18%, and ptosis in 13%


• Low hairline over the back of the neck


• Shield-shaped chest: nipples are widely separated with microthelia


• Multiple pigmented naevi


• Short fourth metacarpal


• Lymphoedema of the hands and feet


• Check for radiofemoral delay (coarctation of the aorta) and aortic stenosis.


image

Fig. 233.1 A 15-year-old girl exhibiting failure of sexual maturation, short stature, cubitus valgus and a goitre. There is no webbing of the neck.


(With permission from Kliegman et al. 2007.)


Proceed as follows:



• Tell the examiner that you would like to:


• examine genitalia for infantilism

• measure serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (these will be high, confirming primary hypogonadism)

• check thyroid-stimulating hormone (hypothyroidism occurs in 15 to 30%)

• order a renal ultrasound (kidney malformations, including horseshoe kidney and duplication of the collecting system, are found in up to 40%)

• echocardiogram: as physical examination may be inadequate to detect a bicuspid aortic valve

• request for a formal assessment of learning disability (~70% have learning disabilities affecting non-verbal perceptual motor and visuospatial skills).


Diagnosis


This patient has Turner syndrome (lesion), which is caused by the absence of one of the X chromosomes (aetiology). She has amenorrhoea and skeletal abnormalities (functional status).



Questions




What constitutes a web?


Either a fan-like fold of skin extending from the shoulder to the neck or an abnormal splaying out of the trapezius.



Advanced-level questions




Which other cardiovascular lesions are associated with webbing of the neck?


Noonan syndrome or Ullrich syndrome with pulmonary stenosis.

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  2. Cauda equina syndrome
  3. Dermatomyositis
  4. Arteriovenous fistula

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Dec 4, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on Turner syndrome

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