X 连锁肢端巨大症导致的儿童期肢端肥大症：长期随访。
Childhood acromegaly due to X-linked acrogigantism: long term follow-up.
机构信息
Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Department of Pediatrics, New York University School of Medicine, New York, NY, USA.
出版信息
Pituitary. 2016 Dec;19(6):560-564. doi: 10.1007/s11102-016-0743-0.
PURPOSE
Acromegaly in infancy is extremely rare. We describe a 32 year old woman who presented at 6 months of age with isolated macrocephaly, followed by accelerated linear growth. At 21 months of age, her head circumference was 55 cm (+5.5 SD), height was 97.6 cm (+4.4 SD) and weight was 20.6 kg (+6.2 SD). She had markedly elevated levels of growth hormone (GH) (135 ng/ml), IGF-1 (1540 ng/ml) and prolactin (370 ng/ml). A pituitary macroadenoma was surgically resected. Immunohistochemical staining was positive for GH. Post-operatively, she developed ACTH and TSH deficiency and diabetes insipidus.
METHODS
Long term clinical follow-up and genetic testing with chromosomal microarray analysis.
RESULTS
Despite GH deficiency, she grew well until 7 ½ years old, with subsequent decline in growth velocity, and received GH therapy for 5 years. Puberty was initiated with estrogen therapy. As an adult, she has no stigmata of acromegaly, with a height of 164.5 cm and non-acromegalic features. IGF-1 has remained in the low normal range. Prolactin has been mildly elevated. Serial MRIs have shown no evidence of tumor recurrence. She receives replacement therapy with hydrocortisone, levothyroxine and DDAVP. Chromosomal microarray analysis revealed that she has X-linked acrogigantism (X-LAG) due to a de novo duplication of Xq26.3 (516 kb). She recently became pregnant following ovarian stimulation and chorionic villus sampling revealed that she is carrying a male with the same duplication.
CONCLUSION
This report provides detailed long term clinical follow-up of a patient with X-LAG syndrome.
目的
婴儿期肢端肥大症极为罕见。我们描述了一位 32 岁女性，她在 6 个月大时表现为单纯性大头畸形，随后线性生长加速。21 个月时，她的头围为 55cm（+5.5SD），身高为 97.6cm（+4.4SD），体重为 20.6kg（+6.2SD）。她的生长激素（GH）水平显著升高（135ng/ml），IGF-1（1540ng/ml）和催乳素（370ng/ml）升高。垂体大腺瘤行手术切除。免疫组化染色 GH 阳性。术后她出现 ACTH 和 TSH 缺乏及尿崩症。
方法
长期临床随访和染色体微阵列分析的基因检测。
结果
尽管 GH 缺乏，她在 7 岁半之前生长良好，随后生长速度下降，接受 GH 治疗 5 年。青春期开始接受雌激素治疗。成年后，她没有肢端肥大症的特征，身高 164.5cm，无肢端肥大症特征。IGF-1 仍处于正常低值范围。催乳素轻度升高。连续 MRI 检查均未见肿瘤复发证据。她接受氢化可的松、左甲状腺素和 DDAVP 替代治疗。染色体微阵列分析显示，她患有 X 连锁肢端肥大症（X-LAG），原因是 Xq26.3 （516kb）的新生重复。她最近在卵巢刺激后怀孕，绒毛膜绒毛取样显示她怀的是一个携带相同重复的男性胎儿。
结论
本报告提供了 X-LAG 综合征患者详细的长期临床随访资料。
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