Brauner Raja, Le Harivel de Gonneville Agnes, Kindermans Catherine, Le Bidois Jérone, Prieur Marguerite, Lyonnet Stanislaus, Souberbielle Jean-Claude
Université René Descartes and Pediatric Endocrinology Unit, Fondation-Hôpital Saint Joseph, Paris, France.
J Pediatr. 2003 May;142(5):504-8. doi: 10.1067/mpd.2003.156.
To determine the frequency and expression of hypoparathyroidism and the factors of short stature in 22q11.2 deletion syndrome to optimize clinical care.
Cross-sectional study of 39 patients 9.7 +/- 0.8 (2.5-20) years of age.
The congenital abnormalities were cardiac defects in 33 of 39, thymus hypoplasia in 15 of 18 evaluated, and craniofacial dysmorphy in all; 15 patients (39%) had had one or more seizures. Before evaluation, 12 patients were hypocalcemic, with (n = 4) or without clinical manifestations, diagnosed before 1 month in 10 cases, at 3 months or 12 years in two others. At evaluation, 9 patients were hypocalcemic, 5 of 9 had been hypocalcemic, and 8 others had parathyroid hormone (PTH) concentrations low for their ionized calcium. One had high PTH without hypocalcemia and 2 were hypercalcemic. The values were below -2 SD at birth for weight and/or height in 26% of cases and at evaluation for height and body mass index in 23% and for insulin-like growth factor-I in 37%.
Parathyroid function was abnormal in 27 of 39 (69%) patients. This was not diagnosed in the majority. Short stature was probably due to intrauterine growth restriction, underweight, and growth hormone deficiency, as suggested by low insulin-like growth factor I.
确定22q11.2缺失综合征患者甲状旁腺功能减退的发生率和表现以及身材矮小的相关因素，以优化临床护理。
对39例年龄为9.7±0.8（2.5 - 20）岁的患者进行横断面研究。
39例患者中，先天性异常包括33例心脏缺陷、18例接受评估的患者中有15例胸腺发育不全，所有患者均有颅面畸形；15例患者（39%）曾有一次或多次癫痫发作。在评估前，12例患者血钙过低，其中4例有临床表现，10例在1个月前确诊，另外2例分别在3个月或12岁时确诊。评估时，9例患者血钙过低，其中5例之前就存在血钙过低情况，另外8例患者的甲状旁腺激素（PTH）浓度与其离子钙水平相比偏低。1例患者PTH升高但无血钙过低，2例患者血钙过高。26%的病例出生时体重和/或身高值低于-2标准差，评估时身高、体重指数以及胰岛素样生长因子-I分别有23%、37%低于-2标准差。
39例患者中有27例（69%）甲状旁腺功能异常，大多数未被诊断出来。身材矮小可能是由于宫内生长受限、体重不足和生长激素缺乏，胰岛素样生长因子I水平低表明了这一点。
