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Snapshot diagnosis - why is this 13-year old not growing?

This 13-year-old is the smallest in her class, despite having tall parents and siblings. Dr Mike Wyndham describes how a closer look led him to the right diagnosis

This 13-year-old is the smallest in her class, despite having tall parents and siblings. Dr Mike Wyndham describes how a closer look led him to the right diagnosis

The patient

This 13-year-old girl was brought along by her mother. The gist of the history was that she was now the smallest girl in her class at school. The mother was quite surprised about this as all the family were pretty tall and her other children were all much taller when they were 13. On further questioning, it became clear that the girl was struggling at school and was frequently in trouble with teachers.

First instinct

Growth failure has multiple causes but before I could consider these, I was reminded from a previous referral that there are two other general principles to be considered. First, whether this could be a familial type problem – the parents being short and so producing a short child. This was unlikely as mum was 5ft 7in and dad over 6ft. The other was whether this could be a delayed maturation, with bone age being behind chronological age. This was impossible to prove or disprove in my surgery but certainly uncharacteristic for the family.

I put the latter diagnosis on the back burner and started to consider other options. The educational delay was worrying me.

Differential diagnosis

• Genetic causes, such as Turner Syndrome

• Malabsorption, such as coeliac disease, IBD

• Endocrine, for example hypothyroidism, hypopituitarism

• Chronic kidney disease

On closer questioning, the girl had not started her periods, which could suggest Turner Syndrome. But there was no webbing of the neck. There were no gut symptoms such as diarrhoea, which might have suggested a malabsorption syndrome.

She had no abdominal pain and constitutional upset, which might have gone with a diagnosis of Crohn's disease.

Underactive hormone conditions can be difficult to diagnose unless they are grossly underactive. But in all my years of general practice, the only endocrine condition I have ever encountered in children is diabetes. Nevertheless, that doesn't mean one should stop being on the lookout.

Any congenital hypothyroidism should be detected at routine neonatal blood testing.

For CKD, I would have expected to see a sick individual and this was not the case here. Ultimately, blood tests were going to be required to exclude some of the above conditions.

Getting on the right track

It's terribly easy to take a history from the wrong person. This classically happens when working with an interpreter. Similarly, it's easy to look at a parent when dealing with a young child.

The hidden clue

When I belatedly addressed the girl, I was struck by the appearance of her teeth. They did not look formed enough for secondary dentition. There also appeared to be a shortened ring finger and she was overweight.

I arranged for some biochemistry, which showed a low calcium and a raised phosphate and a raised PTH suggesting the underlying problem was pseudohypoparathyroidism.

Dr Mike Wyndham is a GP in Edgware, north London

Submit your own pictures Submit your own pictures

Have you got a photo of an odd clinical case that turned out not to be what it first seemed? Submit your photo together with the case history and key learning points. The best will win a case of wine and a selection will be published in Pulse. Deadline 30 January. For more information contact Pulse's clinical editor Adam Legge at alegge@cmpmedica.com or 020 7927 8097

Why is this girl not growing? Why is this girl not growing?

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