Pirazzoli P, Mazzanti L, Bergamaschi R, Perri A, Scarano E, Nanni S, Zucchini S, Gualandi S, Cicognani A, Cacciari E
First Paediatric Clinic, University of Bologna, Italy.
Acta Paediatr. 1999 Jun;88(6):610-3. doi: 10.1080/08035259950169242.
We evaluated growth hormone (GH) secretion in 81 patients with Turner's syndrome (TS) (mean age 10.7+/-3.6 y) with respect to karyotype, auxological characteristics and growth response to GH treatment (1 IU/kg/wk). None of the patients had spontaneous puberty or had started replacement therapy with estrogens. Thirty-nine patients (48%) had monosomia 45X, 29 (36%) structural abnormalities of the X chromosome and 13 (16%) X mosaicism. Before the start of GH therapy, each patient underwent an evaluation of mean nocturnal GH concentration (MGHC) and 75 patients also underwent 2 pharmacological tests. MGHC of the TS patients did not differ from that of 29 prepubertal GH-deficient girls (GH peaks < 8 microg/l after pharmacological tests) and both groups were lower (p < 0.0001 and p < 0.0005, respectively) than MGHCs of 27 short normal girls (GH peak > 8 microg/l). MGHC of the patients with TS was negatively correlated (p < 0.001) with bodyweight excess (BWE) at multiple regression analysis. MGHC of the TS patients with BWE < 20% was significantly higher (p < 0.02) than that of the TS patients with BWE > 20%, but again did not differ from that of the GH-deficient patients and was lower (p < 0.001) than that of the short normal girls. MGHC did not significantly differ between the 3 groups subdivided according to karyotype. Forty-four percent of the TS patients showed GH responses to pharmacological tests < 8 microg/l. Height velocity SDS at first and second year of therapy was not influenced by MGHC levels, chronological or bone age, target height or BWE. In conclusion, spontaneous secretion in our patients with TS was lower than that of the short normal prepubertal girls and did not differ from that of GH-deficient subjects, even if we excluded overweight patients. The level of GH secretion was unable to predict GH response to treatment.
我们评估了81例特纳综合征（TS）患者（平均年龄10.7±3.6岁）的生长激素（GH）分泌情况，涉及核型、体格学特征以及对GH治疗（1 IU/kg/周）的生长反应。所有患者均未出现自发性青春期或开始雌激素替代治疗。39例患者（48%）为45,X单体型，29例（36%）存在X染色体结构异常，13例（16%）为X染色体嵌合体。在开始GH治疗前，每位患者均接受了平均夜间GH浓度（MGHC）评估，75例患者还接受了两项药物试验。TS患者的MGHC与29例青春期前GH缺乏女孩（药物试验后GH峰值<8μg/L）的MGHC无差异，且两组均低于27例身材矮小但正常女孩（GH峰值>8μg/L）的MGHC（分别为p<0.0001和p<0.0005）。在多元回归分析中，TS患者的MGHC与体重超重（BWE）呈负相关（p<0.001）。BWE<20%的TS患者的MGHC显著高于BWE>20%的TS患者（p<0.02），但仍与GH缺乏患者的MGHC无差异，且低于身材矮小但正常女孩的MGHC（p<0.001）。根据核型划分的3组患者的MGHC无显著差异。44%的TS患者对药物试验的GH反应<8μg/L。治疗第一年和第二年的身高增长速度标准差不受MGHC水平、实际年龄或骨龄、靶身高或BWE的影响。总之，我们的TS患者的自发性分泌低于身材矮小但正常的青春期前女孩，且与GH缺乏受试者无差异，即使我们排除了超重患者。GH分泌水平无法预测对治疗的GH反应。
