{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T20:10:52Z","timestamp":1762459852567},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T00:00:00Z","timestamp":1582243200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T00:00:00Z","timestamp":1582243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Lipodystrophies are a group of diseases which are characterized by abnormal adipose tissue deposition and are frequently associated with metabolic changes. Congenital generalized lipodystrophy is an autosomal recessive syndrome, with a prevalence &lt;\u20091:10 million. Acromegaly is a rare disease, secondary to the chronic hypersecretion of growth hormone and insulin-like growth factor-1, with characteristic metabolic and somatic effects. \u201cAcromegaloidism\u201d is a term used for patients who manifest clinical features of acromegaly, but do not present a demonstrable hormone growth hypersecretion. The extreme shortage of subcutaneous adipose tissues and muscle hypertrophy confer an acromegaloid-like appearance in these patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We describe a case of a patient with the rare combination of Berardinelli\u2013Seip congenital lipodystrophy and acromegaly; our patient is a 63-year-old white man, who was referred to an endocrinology consultation for suspected lipodystrophy. He had lipoatrophy of upper and lower limbs, trunk, and buttocks, with muscular prominence, acromegaloid facial appearance, large extremities, and soft tissue tumescence. In addition, he had dyslipidemia and prediabetes. His fat mass ratio (% trunk fat mass\/% lower limbs fat mass) was 1.02 by densitometry and he also had hepatomegaly, with mild steatosis (from an abdominal ultrasound), and left ventricular hypertrophy (from an electrocardiogram). His first oral glucose tolerance test had growth hormone nadir of 0.92\u2009ng\/mL, and the second test, 10\u2009months afterwards, registered growth hormone nadir of 0.64\u2009ng\/mL (growth hormone nadir &lt;\u20090.3\u2009ng\/mL excludes acromegaly). Pituitary magnetic resonance imaging identified an area of hypocaptation of contrast product in relation to a pituitary adenoma and he was subsequently submitted to transsphenoidal surgical resection of the mass. A pathological evaluation showed pituitary adenoma with extensive expression of growth hormone and adrenocorticotropic hormone, as well as a rare expression of follicle-stimulating hormone and prolactin.<\/jats:p>\n                <jats:p>A genetic study revealed an exon 3\/exon 4 deletion of the <jats:italic>AGPAT2<\/jats:italic> gene in homozygosity.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Congenital generalized lipodystrophy is a rare disease which occurs with acromegaloid features. As far as we know, we have described the first case of genetic lipodystrophy associated with true acromegaly.<\/jats:p>\n                <jats:p>Although this is a rare association, the presence of congenital generalized lipodystrophy should not exclude the possibility of simultaneous acromegaly.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-020-2352-9","type":"journal-article","created":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T00:06:16Z","timestamp":1582243576000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Acromegaly with congenital generalized lipodystrophy \u2013 two rare insulin resistance conditions in one patient: a case report"],"prefix":"10.1186","volume":"14","author":[{"given":"Vanessa","family":"Guerreiro","sequence":"first","affiliation":[]},{"given":"Irene","family":"Bernardes","sequence":"additional","affiliation":[]},{"given":"Josu\u00e9","family":"Pereira","sequence":"additional","affiliation":[]},{"given":"Roberto Pestana","family":"Silva","sequence":"additional","affiliation":[]},{"given":"Susana","family":"Fernandes","sequence":"additional","affiliation":[]},{"given":"Davide","family":"Carvalho","sequence":"additional","affiliation":[]},{"given":"Paula","family":"Freitas","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2020,2,21]]},"reference":[{"key":"2352_CR1","doi-asserted-by":"publisher","first-page":"F51","DOI":"10.1097\/00002030-199807000-00003","volume":"12","author":"A Carr","year":"1998","unstructured":"Carr A, Samaras K, Burton S, et al. A syndrome of peripheral lipodystrophy, hyperlipidaemia and insulin resistance in patients receiving HIV protease inhibitors. AIDS. 1998;12:F51\u20138.","journal-title":"AIDS"},{"key":"2352_CR2","doi-asserted-by":"publisher","first-page":"F25","DOI":"10.1097\/00002030-200002180-00001","volume":"14","author":"A Carr","year":"2000","unstructured":"Carr A, Miller J, Law M, Cooper DA. A syndrome of lipoatrophy, lactic acidaemia and liver dysfunction associated with HIV nucleoside analogue therapy: contribution to protease inhibitor-related lipodystrophy syndrome. AIDS. 2000;14:F25\u201332.","journal-title":"AIDS"},{"key":"2352_CR3","volume-title":"Lipodystrophy: Beyond generalization? Article in Panminerva medica","author":"P Freitas","year":"2013","unstructured":"Freitas P et al. Lipodystrophy: Beyond generalization? 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