Pal Rimesh, Dutta Pinaki, Mukherjee Kanchan Kumar, Bhansali Anil
Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Department of Neurosurgery, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
BMJ Case Rep. 2017 Sep 28;2017:bcr-2017-221827. doi: 10.1136/bcr-2017-221827.
A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. He had facial asymmetry, wind-swept deformity of lower limbs and a café-au-lait macule over his trunk. Investigations revealed normal-sized pituitary gland with dysplastic cranial bones. Isotope bone scintigraphy was suggestive of polyostotic fibrous dysplasia. A diagnosis of McCune-Albright syndrome was made and trans-sphenoidal hypophysectomy was undertaken. He had persistent hypophosphataemia. Tubular reabsorption of phosphate adjusted for glomerular filtration rate was low and serum FGF-23 level was high. Ga-DOTATATE scintigraphy showed somatostatin-receptor expression in all the dysplastic lesions. FGF-23 produced by the bony lesions could counteract the phosphate-retaining effect of GH excess resulting in hypophosphataemia, which further worsened following hypophysectomy.
一名38岁男性自童年起出现身高过度增长及四肢渐进性增粗。在过去5年中，下肢畸形使情况更为复杂。检查发现，他身高196厘米，有巨舌、肢端肥大、脂溢性皮炎、多汗症，提示为肢端巨大症。他存在面部不对称、下肢“风吹”样畸形以及躯干上的1处咖啡斑。检查显示垂体大小正常，但颅骨发育异常。同位素骨扫描提示为多骨型纤维性发育不良。诊断为McCune-Albright综合征，并进行了经蝶窦垂体切除术。他持续存在低磷血症。经肾小球滤过率校正后的肾小管磷重吸收率低，血清成纤维细胞生长因子23（FGF-23）水平高。镓标记的生长抑素类似物（Ga-DOTATATE）闪烁扫描显示，所有发育异常的病变均有生长抑素受体表达。骨病变产生的FGF-23可抵消生长激素过多导致的磷潴留作用，从而引起低磷血症，垂体切除术后这种情况进一步恶化。
