Paediatric Endocrinology Unit - Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
Eur J Pediatr. 2020 Jan;179(1):151-155. doi: 10.1007/s00431-019-03489-3. Epub 2019 Nov 6.
The clinical presentation of combined pituitary hormone deficiency (CPHD) is variable. Some patients present with hypoglycemia during the neonatal period or during the first few years of life. Others present later in childhood with growth failure. We report on 7 patients with very late diagnosed severe hypopituitarism with pituitary stalk interruption syndrome. Five out of the 7 patients had recently migrated to Belgium and the 2 other patients were from low socio-economic status families. All of them presented to our clinic for short stature and some also complained of lack of pubertal development. Four out of the 7 patients reached final height which was within their target height, despite very delayed treatment.Conclusion: We illustrate the overall good outcome of these children with delayed diagnosed severe hypopituitarism. Adverse life conditions and social deprivation are thought to be the cause of their late diagnosis. In the current global socio-politic context, pediatricians in high-income countries should stay aware that migration and poor socio-economic status can be associated with specific clinical presentations.What is Known:• The clinical presentation of combined pituitary hormone deficiency (CPHD) is variable. Some patients present with hypoglycemia during the neonatal period or during the first few years of life. Others present later in childhood with growth failure.• A few case reports are published with very late diagnosis of congenital hypopituitarism.What is New:• We report on the largest series of delayed diagnosis of congenital hypopituitarism and illustrate the survival of these children with overall good prognosis.• Migration and social deprivation are thought to be the main cause of this late diagnosis.
联合垂体激素缺乏症（CPHD）的临床表现多种多样。一些患者在新生儿期或生命的头几年会出现低血糖。其他患者则在儿童后期出现生长障碍。我们报告了 7 例非常晚发性严重垂体功能减退伴垂体柄中断综合征患者。这 7 例患者中有 5 例最近移居到比利时，另外 2 例来自社会经济地位较低的家庭。他们都因身材矮小而到我们的诊所就诊，有些还抱怨青春期发育不良。7 例患者中有 4 例达到了最终身高，尽管治疗非常延迟，但仍在其目标身高范围内。结论：我们说明了这些患有严重迟发性垂体功能减退症的儿童总体预后良好。不良的生活条件和社会贫困被认为是导致他们延迟诊断的原因。在当前的全球社会政治背景下，高收入国家的儿科医生应该意识到，移民和贫困的社会经济地位可能与特定的临床表现有关。已知情况：• CPHD 的临床表现多种多样。一些患者在新生儿期或生命的头几年会出现低血糖。其他患者则在儿童后期出现生长障碍。• 有几例病例报告发表了非常晚发性先天性垂体功能减退症的诊断。新情况：• 我们报告了最大系列的延迟诊断先天性垂体功能减退症，并说明了这些儿童的总体预后良好。• 移民和社会贫困被认为是这种迟发性诊断的主要原因。
