Turner Syndrome

When parents of a  girl child have concerns of a short stature or/and pubertal delay, always consider Turner syndrome as one of the possibilities. 

Besides a thorough physical Examination and doing a SMR staging, do look for characteristic findings like webbing of neck, a broad chest with widely spaced nipples and cubitus valgus/a wide carrying angle (this is the angle between the forearm and the hip when the arm is held by the side).

Cardiac anomalies like coarctation of aorta are quite common, along with Urinary tract abnormalities and ear infections. Most of the girls with Turner syndrome have ovarian insufficiency and primary amenorrhoea.  They are also susceptible to various endocrine problems like Hypothyroidism, Diabetes etc.

A normal intelligence is observed in large majority of girls, but learning disabilities are common. 

Karyotype(45, XO) is the gold standard for confirmation of diagnosis.

Not missing the clinical cues and timely referral to a Pediatric Endocrinologist helps in an appropriate management.

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