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Pseudoacromegaly: A Differential Diagnostic Problem for Acromegaly With a Genetic Solution.

Artikel i vetenskaplig tidskrift
Författare Per Dahlqvist
Rupert Spencer
Pedro Marques
Mary N Dang
Camilla A M Glad
Gudmundur Johannsson
Márta Korbonits
Publicerad i Journal of the Endocrine Society
Volym 1
Nummer/häfte 8
Sidor 1104-1109
ISSN 2472-1972
Publiceringsår 2017
Publicerad vid Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition
Sidor 1104-1109
Språk en
Länkar dx.doi.org/10.1210/js.2017-00164
Ämneskategorier Endokrinologi


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.

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