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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study.
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Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: a longitudinal study.

机译：散发性或家族性神经纤维瘤病1型患者的生长，青春期和内分泌功能：纵向研究。

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摘要

OBJECTIVE: This study prospectively evaluates parameters of growth, puberty, and attained adult height in children with sporadic or familial occurrence of neurofibromatosis type 1 (NF-1), followed up longitudinally, to define the most important factors affecting these parameters. PATIENTS AND METHODS: The study was made up of 89 patients (55 boys, 34 girls) with sporadic (n = 45) or familial NF-1 (13 affected fathers and 31 affected mothers). The average age at referral was 8.9 years (range 8.5-15 years), and the average follow-up period was 8.5 years (6-15 years). A total of 28 patients attained adult height at the time of the report. Anthropometric measurements and bone age determinations were performed at 6- to 12-month intervals. As indicated, central nervous system (CNS) imaging was performed on 60 patients. Serum levels of thyroid stimulating hormone, free T4, lutheinizing hormone, follicle stimulating hormone, testosterone or estradiol, cortisol, and prolactin were measured in all patients periodically, and the pituitary growth hormone reserve was assessed in 32 short patients. RESULTS: CNS pathology was found in 23 of the 89 patients. A total of 6 patients required neurosurgery, and 2 patients had cranial irradiation. Of these patients, 3 were receiving recombinant growth hormone and thyroxin replacement therapy and 5 patients with precocious puberty were treated with a gonadotropin-releasing hormone analog. All other patients had normal endocrine tests. Precocious puberty was recorded in 5 patients and was more common among the familial cases. The 5 patients with precocious puberty also had CNS pathology. Short stature (<10th percentile) was observed in 25.5% of the patients during the prepubertal period with a significant gradual reduction of their relative height for age (standard scores) during puberty. Short adult height was noted in 12 (43%) of 28 patients, and only 50% of the 28 patients attained an adult height that was appropriate for their respective target height. Short stature was more common among patients with familial NF-1, particularly if the father was affected, and among those patients with CNS pathology. Parental short stature was observed in 39% of the mothers and in 33% of the fathers (59% and 54% among the affected parents, respectively). Tall stature (>90th percentile) was observed in 4 of 89 patients (4.5%), who all had CNS tumors. A highly significant correlation was found among all adult height-predicting parameters (r =.79), and attained adult height was best correlated with the target height (r =.7; n = 28). CONCLUSIONS: Short adult height is an important characteristic of NF-1 and deserves to be emphasized in the evaluation and follow-up of these patients during childhood. Short adult height is strongly linked with familial background of NF-1, in particular if the affected parent is the father, and is affected adversely by the relatively poor pubertal growth. Despite normal pituitary gland and thyroid function tests in most children and adolescents with NF-1, increased incidence of precocious puberty was observed. As the clinical expression in the second generation is more pronounced, the underlying mechanism seems to be mediated by genetic factors that are yet undefined.
机译：目的：本研究前瞻性评估散发或家族性1型神经纤维瘤病（NF-1）患儿的生长，青春期和达到的成人身高参数，纵向随访，以定义影响这些参数的最重要因素。患者与方法：该研究由89例散发性（n = 45）或家族性NF-1（13名患病父亲和31名患病母亲）的患者（55名男孩，34名女孩）组成。转诊的平均年龄为8.9岁（8.5至15岁），平均随访期为8.5年（6至15岁）。在报告时，共有28位患者达到了成人身高。人体测量和骨龄测定以6到12个月的间隔进行。如图所示，对60例患者进行了中枢神经系统（CNS）成像。定期测量所有患者的血清促甲状腺激素，游离T4，促黄体激素，卵泡刺激激素，睾丸激素或雌二醇，皮质醇和催乳激素的水平，并评估32例矮患者的垂体生长激素储备。结果：89例患者中有23例发现CNS病理。共有6例患者需要进行神经外科手术，其中2例接受了颅骨放射治疗。这些患者中，3例接受重组生长激素和甲状腺素替代疗法，5例性早熟患者接受促性腺激素释放激素类似物治疗。所有其他患者的内分泌检查均正常。记录有5例性早熟，在家族性病例中更为常见。 5例性早熟患者也有中枢神经系统病理。在青春期之前，有25.5％的患者出现矮小身材（<10％），并且在青春期，其相对年龄的相对高度（标准评分）显着降低。在28名患者中，有12名（43％）注意到成人身高矮小，在28名患者中，只有50％的成年人身高达到了各自的目标身高。身材矮小的身材在家族性NF-1的患者中更为常见，尤其是在父亲受到影响的情况下，以及那些患有CNS病理的患者。在39％的母亲和33％的父亲中观察到父母身材矮小（在受影响的父母中分别为59％和54％）。 89例患者中有4例（4.5％）观察到高大的身材（> 90％）。在所有成人身高预测参数之间均发现高度相关（r = .79），并且达到的成人身高与目标身高最佳相关（r = .7; n = 28）。结论：矮小的成年人身高是NF-1的重要特征，在儿童期的评估和随访中值得强调。成人身高矮小与NF-1的家族背景密切相关，特别是如果受影响的父母是父亲，则受到相对较差的青春期生长的不利影响。尽管在大多数患有NF-1的儿童和青少年中垂体和甲状腺功能检查正常，但观察到性早熟的发生率增加。随着第二代的临床表达更加明显，其潜在机制似乎是由尚未确定的遗传因素介导的。

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