BACKGROUND: The diagnosis of congenital hypopituitarism is difficult and oftendelayed because its symptoms are nonspecific.AIM: To describe the different clinical presentations of children with congenitalhypopituitarism to reduce the time for diagnosis and to begin a precocious andappropriate treatment.STUDY DESIGN: We analyzed a cohort of five children with congenitalhypopituitarism, describing their clinical, biochemical and radiologicalcharacteristics from the birth to diagnosis.RESULTS: As first sign of the disease, all of five patients presented a neonatal hypoglycemia, associated in four cases with jaundice. In all these four cases,the clinicians hypothesized a metabolic disease delaying the diagnosis, which wasperformed in only two cases within the neonatal period. In the other three cases,the diagnosis was formulated at 2, 5 and 8 years of life because there was severeand precocious growth impairment.CONCLUSIONS: It is important to suspect congenital hypopituitarism in thepresence of persistent neonatal hypoglycemia associated with jaundice and of aprecocious and severe reduction of the growth velocity in childhood. In all thesecases, it is necessary to undertake a hypothalamic-pituitary magnetic resonanceimaging scan as soon as possible, and to start appropriate treatment.

Diagnostic pitfalls in the assessment of congenital hypopituitarism.

Biban, P;GAUDINO, Rossella;ANTONIAZZI, Franco
2014

Abstract

BACKGROUND: The diagnosis of congenital hypopituitarism is difficult and oftendelayed because its symptoms are nonspecific.AIM: To describe the different clinical presentations of children with congenitalhypopituitarism to reduce the time for diagnosis and to begin a precocious andappropriate treatment.STUDY DESIGN: We analyzed a cohort of five children with congenitalhypopituitarism, describing their clinical, biochemical and radiologicalcharacteristics from the birth to diagnosis.RESULTS: As first sign of the disease, all of five patients presented a neonatal hypoglycemia, associated in four cases with jaundice. In all these four cases,the clinicians hypothesized a metabolic disease delaying the diagnosis, which wasperformed in only two cases within the neonatal period. In the other three cases,the diagnosis was formulated at 2, 5 and 8 years of life because there was severeand precocious growth impairment.CONCLUSIONS: It is important to suspect congenital hypopituitarism in thepresence of persistent neonatal hypoglycemia associated with jaundice and of aprecocious and severe reduction of the growth velocity in childhood. In all thesecases, it is necessary to undertake a hypothalamic-pituitary magnetic resonanceimaging scan as soon as possible, and to start appropriate treatment.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11562/772562
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