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肢端肥大症诊断中的一些线索与陷阱

Some clues and pitfalls in the diagnosis of acromegaly.

作者信息

Rizvi Ali A

机构信息

Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism, University of South Carolina School of Medicine, Columbia, South Carolina 29203, USA.

出版信息

Endocr Pract. 2004 Jul-Aug;10(4):348-52. doi: 10.4158/EP.10.4.348.

DOI:10.4158/EP.10.4.348
PMID:15760780
Abstract

OBJECTIVE

To describe a case of acromegaly in a young woman using oral contraceptives who had nonspecific symptoms and persistent hyperphosphatemia and to analyze the reasons for delay in diagnosis.

METHODS

A 31-year-old woman underwent evaluation for failure of menstrual flow to resume after discontinued use of oral contraceptives. Clinical and laboratory findings are summarized, and atypical manifestations of acromegaly are discussed.

RESULTS

The patient complained of weight gain, acne, and increased facial hair growth, and laboratory tests showed a low estradiol level and hyperinsulinemia. "Post-pill amenorrhea" and polycystic ovary syndrome were considered possible diagnoses. During subsequent endocrinology consultation, hyperphosphatemia was present on three occasions during a 7-month period. Hormonal studies for evaluation of pituitary function revealed increased insulin-like growth factor-I and growth hormone (GH) levels. Acromegaly was suspected, and the increased GH level failed to suppress after a glucose load. Magnetic resonance imaging revealed a pituitary macro-adenoma with suprasellar extension. Visual field testing showed bitemporal abnormalities. Transsphenoidal resection successfully removed the GH-producing tumor, and hormone replacement therapy was initiated postoperatively.

CONCLUSION

The textbook presentation of GH excess is a late feature of acromegaly. The diagnosis in a young woman can be easily missed when clinicopathologic findings are not classic and the picture is further clouded by factors such as oral contraceptive use. Features may also resemble polycystic ovary syndrome, a more common condition in women of childbearing age. This case also illustrates that hyperphosphatemia, overlooked in this patient, can precede the full-blown clinical manifestations of acromegaly and serve as a subtle clue to the underlying disease. Awareness of these situations and screening for high GH levels in patients with unexplained, persistent hyperphosphatemia are advisable for making an early correct diagnosis and providing appropriate therapy.

摘要

目的

描述一名使用口服避孕药的年轻女性患肢端肥大症的病例,该患者有非特异性症状且持续存在高磷血症,并分析诊断延迟的原因。

方法

一名31岁女性因停用口服避孕药后月经未复潮而接受评估。总结临床和实验室检查结果,并讨论肢端肥大症的非典型表现。

结果

患者主诉体重增加、痤疮和面部毛发增多,实验室检查显示雌二醇水平低和高胰岛素血症。“避孕药后闭经”和多囊卵巢综合征被认为是可能的诊断。在随后的内分泌会诊中,在7个月期间有3次出现高磷血症。评估垂体功能的激素研究显示胰岛素样生长因子-I和生长激素(GH)水平升高。怀疑为肢端肥大症,葡萄糖负荷后GH水平未能被抑制。磁共振成像显示垂体大腺瘤并向鞍上延伸。视野检查显示双颞侧异常。经蝶窦切除术成功切除了产生GH的肿瘤,术后开始激素替代治疗。

结论

GH过量的典型表现是肢端肥大症的晚期特征。当临床病理表现不典型且因使用口服避孕药等因素使情况更加复杂时,年轻女性的诊断很容易被漏诊。其特征也可能类似于多囊卵巢综合征,这在育龄女性中是一种更常见的疾病。该病例还表明,该患者中被忽视的高磷血症可能先于肢端肥大症的全面临床表现出现,并可作为潜在疾病的一个微妙线索。认识到这些情况并对原因不明的持续高磷血症患者进行高GH水平筛查,有助于早期正确诊断并提供适当治疗。

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