Introduction

A 41-month-old female child was referred to the endocrine clinic for evaluation of poor growth, and delayed motor and mental milestones. She was the only child born out of a non-consanguineous marriage. There was no history of hypothyroidism or goitre in the parents. There was no family history of congenital hypothyroidism. Clinical evaluation revealed a lethargic child with dry skin, open anterior fontanelle, protuberant abdomen and short limbed dwarfism. Her bone age was less than 2 years and height age was 20 months. Her skull X-ray is shown in the figure.

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	Questions

1	What is the diagnosis?
2	What abnormalities are shown in the skull X-ray ?
3	What other skeletal abnormalities are seen in this condition?

	Answers

QUESTION 1
This patient has congenital hypothyroidism. Detailed clinical evaluation revealed, in addition to the above findings, an enlarged tongue, coarse facial features, generalised hypotonia, hoarse cry, and delayed relaxation of tendon jerks. There was no goitre. Serum thyroid-stimulating hormone levels were 51 mU/l (normal 0.5-5 mU/l), serum thyroxine levels were 10 nmol/l (64-154 nmol/l) and serum triiodothyronine (T₃ levels were 0.2 nmol/l (1.1-2.9 . . . [Full text of this article]