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Pseudoacromegaly: A Differential Diagnostic Problem for Acromegaly With a Genetic Solution
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Medicine. Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, and Department of Endocrinology, Sahlgrenska University Hospital, Gothenburg.
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2017 (English)In: Journal of the Endocrine Society, ISSN 2472-1972, Vol. 1, no 8, p. 1104-1109Article in journal (Refereed) Published
Abstract [en]

Acromegaly is usually not a difficult condition to diagnose once the possibility of this disease has been raised. However, a few conditions present with some aspects of acromegaly or gigantism but without growth hormone (GH) excess. Such cases are described as "pseudoacromegaly" or "acromegaloidism". Here we describe a female patient investigated for GH excess at 10 years of age for tall stature since infancy (height and weight > +3 standard deviations) and typical acromegalic features, including large hands/feet, large jaw, tongue, hoarse deep voice, and headache. Results of radiography of the sella turcica and GH response at an oral glucose tolerance test and insulin-arginine- thyrotrophin-luteinizing hormone-releasing hormone test were normal. Ethinylestradiol and medroxyprogesterone were given for 2 years; this successfully stopped further height increase. Although the patient's growth rate plateaued, coarsening of the facial features and acral enlargement also led to investigations for suspicion of acromegaly at 23 and 36 years of age, both with negative results. On referral at the age of 49 years, she had weight gain, sweating, sleep apnea, headaches, joint pain, and enlarged tongue. Endocrine assessment again showing normal GH axis was followed by genetic testing with a macrocephaly/overgrowth syndrome panel. A denovo mutation in the NSD1 gene (c.6605G>C; p.Cys2202Ser) was demonstrated. Mutations affecting the same cysteine residue have been identified in patients with Sotos syndrome. In summary, Sotos syndrome and other overgrowth syndromes can mimic the clinical manifestations of acromegaly or gigantism. Genetic assessment could be helpful in these cases.

Place, publisher, year, edition, pages
2017. Vol. 1, no 8, p. 1104-1109
Keywords [en]
NSD1 gene, Sotos syndrome, overgrowth, pseudoacromegaly
National Category
Endocrinology and Diabetes
Identifiers
URN: urn:nbn:se:umu:diva-143435DOI: 10.1210/js.2017-00164ISI: 000425350300014PubMedID: 29264563OAI: oai:DiVA.org:umu-143435DiVA, id: diva2:1169420
Available from: 2017-12-27 Created: 2017-12-27 Last updated: 2018-06-09Bibliographically approved

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