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Published on: January 17, 2018
Delayed diagnosis of congenital hypopituitarism associated with low socio-economic status and/or migration
Emese Boros1, Madeleine Casimir2, Claudine Heinrichs2
1Paediatric Endocrinology Unit - Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium. emese.boros@huderf.be.
Insights
Delayed diagnosis of combined pituitary hormone deficiency (CPHD) in children is often linked to migration and social deprivation. Despite late treatment, these children can achieve good final height outcomes.
Area of Science:
- Pediatric Endocrinology
- Genetics and Genomics
- Growth Disorders
Background:
- Combined pituitary hormone deficiency (CPHD) presents variably, with early symptoms like hypoglycemia or later growth failure.
- Congenital hypopituitarism diagnosis is often delayed, with few published case reports.
Purpose of the Study:
- To report the largest series of delayed diagnosis of congenital hypopituitarism.
- To highlight the prognosis and outcomes in children with very late-diagnosed severe hypopituitarism.
Main Methods:
- Case series of 7 patients with very late diagnosed severe hypopituitarism and pituitary stalk interruption syndrome.
- Review of clinical presentations, treatment initiation, and final height outcomes.
Main Results:
- Five patients had recently migrated to Belgium; two were from low socio-economic backgrounds.
- All presented with short stature, some with lack of pubertal development.
- Four patients achieved final height within their target height range despite delayed treatment.
Conclusions:
- Adverse life conditions and social deprivation are likely causes for the late diagnosis of hypopituitarism.
- Pediatricians in high-income countries must recognize that migration and socio-economic status can influence clinical presentations.
Abstract:
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.
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