BACKGROUND 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 < 1:10 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. "Acromegaloidism" 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. CASE PRESENTATION We describe a case of a patient with the rare combination of Berardinelli-Seip 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 ng/mL, and the second test, 10 months afterwards, registered growth hormone nadir of 0.64 ng/mL (growth hormone nadir < 0.3 ng/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. A genetic study revealed an exon 3/exon 4 deletion of the AGPAT2 gene in homozygosity. CONCLUSIONS 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. Although this is a rare association, the presence of congenital generalized lipodystrophy should not exclude the possibility of simultaneous acromegaly.

中文翻译：

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肢端肥大伴先天性全身性脂肪营养不良-一名患者出现两种罕见的胰岛素抵抗疾病：一例病例报告。

背景技术脂血营养不良是一组疾病，其特征在于脂肪组织沉积异常并且经常与代谢变化有关。先天性全身性脂肪营养不良是一种常染色体隐性遗传综合征，患病率<1:10百万。肢端肥大症是一种罕见的疾病，继发于生长激素和胰岛素样生长因子-1的慢性过度分泌，具有特有的代谢和躯体作用。“肢端肥大症”是一个术语，用于表现肢端肥大症的临床特征但不表现出明显的激素生长过度分泌的患者。皮下脂肪组织和肌肉肥大的极度缺乏在这些患者中赋予了类巨细胞样外观。病例介绍我们描述了一例患有Berardinelli-Seip先天性脂肪营养不良和肢端肥大症的罕见患者。我们的患者是一名63岁的白人，因怀疑脂肪营养不良而接受了内分泌学咨询。他的上肢和下肢，躯干和臀部有脂肪萎缩，肌肉突出，肢端有肢端巨小体，四肢大，软组织肿胀。此外，他患有血脂异常和糖尿病前期。通过密度测定法，他的脂肪质量比（躯干脂肪质量％/下肢脂肪％）为1.02，并且患有肝肿大，轻度脂肪变性（来自腹部超声）和左心室肥大（来自心电图）。他的第一次口服葡萄糖耐量测试的生长激素最低点为0.92 ng / mL，第二次测试（10个月后）注册的生长激素最低点为0.64 ng / mL（生长激素最低点<0.3 ng / mL排除肢端肥大症）。垂体磁共振成像确定了与垂体腺瘤相关的造影剂功能低下区域，随后他接受了经蝶窦手术切除肿块。病理评估显示垂体腺瘤广泛表达生长激素和促肾上腺皮质激素，以及罕见的促卵泡激素和催乳激素表达。一项遗传研究显示纯合性中AGPAT2基因的外显子3 /外显子4缺失。结论先天性全身性脂肪营养不良是一种罕见的疾病，伴有肢端肥大症。据我们所知，我们已经描述了第一例与真正的肢端肥大症有关的遗传性脂肪营养不良。