Tauber Maïthé, Chevrel Jean, Diene Gwenaelle, Moulin Pierre, Jouret Béatrice, Oliver Isabelle, Pienkowski Catherine, Sevely Annick
Division of Endocrinology, Genetics, Gynecology and Bone Diseases, Hôpital des Enfants, Toulouse, France.
Horm Res. 2005;64(6):266-73. doi: 10.1159/000089425. Epub 2005 Oct 15.
We report long-term evolution of endocrine functions and the results of GH treatment in 35 patients (26 male and 9 female) with pituitary stalk interruption. At diagnosis, mean chronological age was 4.8 +/- 2.7 years, mean SDS for height -3.1 +/- 0.8 with a bone age retardation of 2.3 +/- 1.3 years and a mean SDS for growth velocity of -0.5 +/- 1.1; 80% presented complete GH deficiency (GHD) and 20% partial GHD; thyroid deficiency was present in 47.1% of children with complete GHD but absent in all partial GHD. Diagnosis was made during the first months of life in only 2 patients while 23% presented with severe neonatal distress; neonatal signs were only observed in the group with pituitary height below 2 mm (45.7% of patients). GHD was isolated in 40.6% of patients below 10 years while multiple hormone deficiencies was consistent at completion of growth in all patients. Height gain was significantly higher in patients who started GH treatment before 4 years (p = 0.002). GH treatment is very effective: in 13 patients, final height was -0.4 +/- 1.0, total height gain 3.2 +/- 1.2 and distance to target height -0.3 +/- 1.6 SDS.
我们报告了35例（26例男性和9例女性）垂体柄中断患者的内分泌功能长期演变情况以及生长激素（GH）治疗的结果。诊断时，平均实际年龄为4.8±2.7岁，身高平均标准差（SDS）为-3.1±0.8，骨龄落后2.3±1.3岁，生长速度平均SDS为-0.5±1.1；80%表现为完全性生长激素缺乏（GHD），20%为部分性GHD；47.1%的完全性GHD儿童存在甲状腺功能减退，而所有部分性GHD儿童均无甲状腺功能减退。仅2例患者在出生后的头几个月内确诊，23%的患者出现严重新生儿窘迫；仅在垂体高度低于2mm的组中观察到新生儿体征（占患者的45.7%）。10岁以下患者中40.6%为孤立性GHD，而所有患者在生长结束时均存在多种激素缺乏。4岁前开始GH治疗的患者身高增长明显更高（p = 0.002）。GH治疗非常有效：13例患者的最终身高为-0.4±1.0，总身高增长3.2±1.2，与目标身高的差距为-0.3±1.6 SDS。
