简介胆碱能骨增生是一种罕见的骨硬化性骨骼发育不良,其临床特征包括身材矮小,特征性的面部特征,骨骼脆性增加,和远端指骨的关节骨溶解。缺乏明确的指南来治疗和随访罕见疾病,例如生长激素(GH)缺乏症,这给临床医生带来了困难。本研究旨在确定临床,放射学,关注重组人生长激素(rhGH)治疗反应的第一年,以及肾结石症患者的内分泌发现。这项研究的突出之处在于它提供了rhGH的临床经验,为未来的类似案件提供了一种方法。方法3名女孩和2名男孩分别来自3个不同的家庭,经临床诊断为肾结石,放射学,本研究纳入了2022年至2023年在儿科内分泌学诊所随访的遗传评估。临床发现,人体测量(体重,高度,体重指数[BMI]),实验室,放射学,和基因检查进行回顾性评估。如果随访一年后,性别和年龄的增长率低于-2标准差评分(SDS),则使用L-DOPA和可乐定测试评估参与者的GH缺乏症。结果入院时投诉为身材矮小(80%)和复发性骨折(20%)。所有患者均有特征性的面部特征和短指。入院时身高SDS中位数为-3.0(范围:-1.9至-3.8)。上次临床就诊时的中位身高SDS为-3.2(范围:-1.7至-4.2),中位年龄为8岁(范围:3.5-14岁)。四名患者的BMI正常,一个人超重。骨矿物质密度测定z评分高,两名患者在轻微创伤后骨折,其中一人骨折复发。两名兄弟姐妹(第一和第二例)和第三例被诊断为GH缺乏症,垂体前叶激素正常。一个人在垂体磁共振成像中有部分空蝶鞍。rhGH(33微克/千克/天,皮下)开始。增长率第一,第二,第三例从3.3、3.1、3.9增加到5、4.3、7.2厘米/年,分别。在rhGH之前,两个人患有腺样体肥大,在rhGH后稳定。第四例增长率跟踪仍在继续,而第五种情况,唯一达到成人身高的参与者,根据年龄和性别规范有正常身高。结论虽然罕见,在具有特征性面部特征的患者中,不应忽视pycnodysosis,不成比例的身材矮小,和复发性骨折。如果增长率下降,应及早评估GH缺乏症。rhGH可以恢复长势和GH缺乏症患者的生长速度和追赶生长的可能性。因此,在rhGH的第一年之后,与GH缺乏症的其他病因相比,骨盆畸形患者的生长速率较低。
Introduction Pycnodysostosis is a rare osteosclerotic skeletal dysplasia; its clinical features include short stature, characteristic facial features, increased bone fragility, and acro-osteolysis of the distal phalanx. Lack of clear guidelines for treatment and follow-up in rare diseases such as pycnodysostosis with growth hormone (GH) deficiency poses a difficulty for the clinician. This study aims to identify clinical, radiological, and endocrine findings of patients with pycnodysostosis focusing on the first year of recombinant human growth hormone (rhGH) treatment response. The eminence of this study is that it presents clinical experience with rhGH, providing an approach for future similar cases. Methods Three girls and two boys from three different families diagnosed with pycnodysostosis via clinical, radiological, and genetic evaluation followed up in the pediatric endocrinology clinic between 2022 and 2023 were enrolled in this study. Clinical findings, anthropometric measurements (weight, height, body mass index [BMI]), and laboratory, radiological, and genetic examinations were evaluated retrospectively. Participants were evaluated for GH deficiency using L-DOPA and clonidine tests if growth rate was below -2 standard deviation score (SDS) for gender and age after one-year follow-up. Results Complaints on admission were short stature (80%) and recurrent bone fractures (20%). Characteristic facial features and brachydactyly were seen in all the patients. Median height SDS on admission was -3.0 (range: -1.9 to -3.8). Median height SDS on last clinic visit was -3.2 (range: -1.7 to -4.2) at a median age of 8 years (range: 3.5-14 years). BMI was normal in four patients, while one was overweight. Bone mineral densitometry z-score was high, and two patients had bone fractures following minor trauma, while one had recurrent fractures. Two siblings (first and second cases) and the third case were diagnosed with GH deficiency, and anterior pituitary hormones were normal otherwise. One had partial empty sella in hypophyseal magnetic resonance imaging. rhGH (33 mcg/kg/day, subcutaneously) was started. Growth rate of the first, second, and third cases increased from 3.3, 3.1, 3.9 to 5, 4.3, 7.2 cm/year, respectively. Prior to rhGH, two had adenoid hypertrophy which was stable following rhGH. Growth rate follow-up of the fourth case continues, while the fifth case, the only participant who has reached adult height, has normal height according to age and gender normative. Conclusion Although rare, pycnodysostosis should not be overlooked in a patient with characteristic facial features, disproportionate short stature, and recurrent fractures. GH deficiency should be evaluated early if growth rate is declining. rhGH may restore growth rate and the possibility of catch-up in growth in patients with pycnodysostosis and GH deficiency. Hence, after first year of rhGH, growth rate of patients with pycnodysostosis is lower when compared to other etiologies of GH deficiency.