Acromegaly without acral changes: A rare presentation

无肢端改变的肢端肥大症:一种罕见的表现

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Abstract

Acromegaly is diagnosed clinically by the universal presence of acral enlargement and typical coarse facies. We report a short, elderly female developing acromegalic facies for last 10 years without acral overgrowth. She is a patient of primary hypothyroidism, well controlled for last 20 years. Acromegaly was proven by high level of serum insulin like growth factor-1 (IGF-1) and elevated and nonsuppressed level of growth hormone (GH), with other hormonal profile being undisturbed. She had mild insulin resistance and systemic hypertension in absence of any visual field defect. Magnetic resonance imaging (MRI) of brain revealed pituitary hyperplasia without any detectable adenoma. No source of ectopic secretion of GH or growth hormone releasing hormone (GHRH) could be localized. Therefore, atypical presentation of acromegaly needs high degree of suspicion even if some of the common features are lacking. Here, we have biochemically proved acromegaly with typical facies, short stature but no acral overgrowth and pituitary adenoma despite longstanding disease activity, and thus eluding diagnosis for years.

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