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Cavarzere P.,Universitary Hospital of Verona | Biban P.,Universitary Hospital of Verona | Gaudino R.,University of Verona | Perlini S.,Universitary Hospital of Verona | And 4 more authors.
Molecular Diagnosis and Therapy | Year: 2014

Background: The diagnosis of congenital hypopituitarism is difficult and often delayed because its symptoms are nonspecific.Aim: To describe the different clinical presentations of children with congenital hypopituitarism to reduce the time for diagnosis and to begin a precocious and appropriate treatment.Study design: We analyzed a cohort of five children with congenital hypopituitarism, describing their clinical, biochemical and radiological characteristics 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 was performed 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 severe and precocious growth impairment.Conclusions: It is important to suspect congenital hypopituitarism in the presence of persistent neonatal hypoglycemia associated with jaundice and of a precocious and severe reduction of the growth velocity in childhood. In all these cases, it is necessary to undertake a hypothalamic–pituitary magnetic resonance imaging scan as soon as possible, and to start appropriate treatment. © 2014, Italian Society of Endocrinology (SIE).

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