Emese Boros1, Madeleine Casimir2, Claudine Heinrichs2, Cécile Brachet2. 1. Paediatric Endocrinology Unit - Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium. emese.boros@huderf.be. 2. Paediatric Endocrinology Unit - Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
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.
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.
Authors: D T Den Ouden; M Kroon; P H Hoogland; P H L M Geelhoed-Duijvestijn; J M Wit Journal: J Clin Endocrinol Metab Date: 2002-12 Impact factor: 5.958