Case Studies

Case 1. A short girl

Tracey is 10 years old and is the shortest girl in her class. Her height is 122 cm and is on the 0.4th centile.

• (a) What would you look for in your history and physical examination?

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  • Tracey needs a full history and clinical examination as poor growth can accompany any chronic condition. Most chronic illnesses will be evident, but inflammatory bowel disease and chronic renal failure can be occult. Look for signs of hypothyroidism and any dysmorphic features.

  • Take a birth history, as babies small for gestational age can have reduced growth potential. A psychosocial history is essential as emotional neglect and abuse can stunt growth and social difficulties can result from short stature.

  • Find out if there is a history of maturational delay in the family (mother's age of menarche is particularly relevant). Obtain parental heights so you can calculate the target range for the child's.

  • Previous growth measurements are critical, as fall-off in growth would suggest a medical problem.

• (b) Would you carry out any investigations and if so which?

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  If there has been a fall-off in growth, investigations are always required. They are also indicated if the child is extremely short (height below 0.4th centile). The following need to be considered: full blood count and plasma viscosity, urea and electrolytes, coeliac antibodies, thyroxine and TSH, karyotype, radiograph of the wrist for bone age. Growth hormone stimulation tests should be considered if the growth velocity is reduced on serial measurements or the height is extremely short.

• (c) What does this mean?

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  The bone age is slightly delayed. In growth hormone deficiency and hypothyroidism a more significant delay is seen. The commonest cause of delayed bone age is simple maturational delay.

• (d) What is her diagnosis?

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  Tracey has Turner's syndrome. The diagnosis is usually made at a younger age because of short stature. It is also commonly identified before birth at amniocentesis or ultrasound. The classical dysmorphic features are not always present.

• (e) What treatment is available for her?

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  Tracey will require oestrogen therapy to initiate puberty, and will require oestrogen supplementation throughout the adult years. Most girls are also prescribed growth hormone therapy during childhood to enhance their growth. In adult years, patients with Turner's syndrome have combined endocrine and cardiology follow-up to monitor their hormonal treatment and cardiovascular problems, particularly aortic valve disease, coarctation and hypertension.