Horchani Afef, Bayar Ines, Ben Amor Bilel, Hellara Ilhem, Abdelali Mabrouk, Neffati Fadoua, Khochtali Ines, Najjar Mohamed Fadhel
Ann Biol Clin (Paris). 2022 Jun 30;80(3):268-273. doi: 10.1684/abc.2022.1735.
Acromegaly is a rare endocrine disorder leading to an acquired physical disfigurement and multisystem damage. It is caused in over 95% of cases by a secreting pituitary adenoma. Latency period between disease onset and diagnosis is mainly 10 years due to progressive chronic evolution and exposure to high levels of GH and IGF-1. Here we present a case of acromegaly with over 25 years of diagnostic delay in 69-years-old male with typical features and recurrent urolithiasis. Biochemical diagnosis was confirmed by high levels of IGF-1and lack of suppression of GH during an oral glucose load. Imaging and histological study revealed a co-secreting GH/ prolactine macroadenoma. After three months of complete transphenoidal surgical resection, biochemical remission was not obtained and the patient was treated by a somatostatin receptor ligand. Based on this severe case with atypical manifestations, the diagnosis of acromegaly should be always considered.
肢端肥大症是一种罕见的内分泌疾病，会导致后天身体畸形和多系统损害。超过95%的病例是由分泌性垂体腺瘤引起的。由于疾病进展缓慢且长期暴露于高水平的生长激素（GH）和胰岛素样生长因子-1（IGF-1），疾病发作与诊断之间的潜伏期主要为10年。在此，我们报告一例69岁男性肢端肥大症患者，诊断延迟超过25年，具有典型特征且反复发生尿石症。口服葡萄糖负荷试验中IGF-1水平升高且GH未被抑制，从而确诊生化诊断。影像学和组织学研究显示为分泌GH/催乳素的大腺瘤。经蝶窦完全手术切除三个月后，未实现生化缓解，患者接受了生长抑素受体配体治疗。基于这一具有非典型表现的严重病例，应始终考虑肢端肥大症的诊断。
