Sodero Giorgio, Rigante Donato, Cipolla Clelia
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Pediatric Department, Perrino Hospital, 72100 Brindisi, Italy.
Children (Basel). 2025 Mar 28;12(4):430. doi: 10.3390/children12040430.
Growth hormone deficiency (GHD) is one of the primary endocrine-related causes of short stature in pediatric patients; while neonatal GHD symptoms are well-documented in populations with known genetic and/or organic causes, their exact prevalences in pediatric patients categorized as having idiopathic GHD remains unclear.
We retrospectively analyzed the medical records of patients with idiopathic GHD followed at the Pediatric Endocrinology Unit of the Fondazione Policlinico Universitario A. Gemelli IRCCS starting from January 2010. We analyzed information from 190 patients with idiopathic GHD and examined the prevalences of the most common neonatal signs and symptoms of neonatal GHD. We also included an age- and sex-matched control group that consisted of patients without a confirmed diagnosis of GH deficiency to assess significant differences in the frequencies of neonatal symptoms between the two cohorts.
Regarding neonatal GHD symptoms, the prevalence was the highest for hypoglycemia (n = 53, 27.9%), which was managed through the intravenous administration of glucose in 21 out of 53 cases. Prolonged jaundice that lasted more than 5 days was observed in 37 patients (19.5%) and required phototherapy in 20 out of 37 patients, while exchange transfusion was not performed in any patient. Hyperglycemia and feeding difficulties (n = 17, 8.9%) were less frequent, while the other symptoms were relatively rare. Compared with the control group, the prevalence of hypoglycemia was significantly higher in the GHD patient group (-value = 0.000016).
In our cohort of pediatric patients with idiopathic GHD, the prevalences of neonatal signs and symptoms of GHD was low, except for neonatal hypoglycemia observed in 27.9% of the analyzed patients. Although these are not specific signs of idiopathic GHD, it is beneficial to investigate this information in the medical history during the clinical assessment of the child.
生长激素缺乏症（GHD）是儿科患者身材矮小的主要内分泌相关原因之一；虽然在已知遗传和/或器质性病因的人群中，新生儿GHD症状已有充分记录，但在归类为特发性GHD的儿科患者中，其确切患病率仍不清楚。
我们回顾性分析了自2010年1月起在A. Gemelli IRCCS大学综合医院儿科内分泌科随访的特发性GHD患者的病历。我们分析了190例特发性GHD患者的信息，并检查了新生儿GHD最常见的新生儿体征和症状的患病率。我们还纳入了一个年龄和性别匹配的对照组，该组由未确诊生长激素缺乏症的患者组成，以评估两组新生儿症状出现频率的显著差异。
关于新生儿GHD症状，低血糖的患病率最高（n = 53，27.9%），53例中有21例通过静脉注射葡萄糖进行处理。37例患者（19.5%）出现持续超过5天的黄疸延长，37例中有20例需要光疗，而所有患者均未进行换血治疗。高血糖和喂养困难（n = 17，8.9%）的发生率较低，而其他症状相对少见。与对照组相比，GHD患者组低血糖的患病率显著更高（P值 = 0.000016）。
在我们的特发性GHD儿科患者队列中，除了27.9%的分析患者出现新生儿低血糖外，GHD的新生儿体征和症状患病率较低。虽然这些不是特发性GHD的特异性体征，但在对儿童进行临床评估时，在病史中调查这些信息是有益的。
