Congenital Hypopituitarism

CASTRO, L.; PELLIZAS, C.; MARTIN, S.; MUÑOZ, L.; MIRAS, M.

Montevideo

Encuentro; XXIII Annual Meeting, SLEP Montevideo, Uruguay; 2012

Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP)

Introduction: Congenital Hypopituitarism (CHP) is a rare condition with an incidence of 1/53000 newborns, a variable clinical presentation in terms of severity and time of appearance of hormone deficiencies. Early diagnosis prevents damage in cognitive function and reduces co-morbilities. Objectives: To evaluate the contribution of clinical signs and symptoms, hormone testing and imaging to diagnosis of CHP in children. Materials and Methods: Twelve patients with diagnosis of CHP were retrospectively evaluated during the first two years of life. Results: Of the 12 patients, 25% were referred for suspected CHP during the neonatal period. They presented neonatal hypoglycemia (83.3%), micropenis (83.3%), seizures (58%), and cholestasis (8.3%). Deficiency in four tropins (GHTSH- ACTH- GnRH) was observed in 50% of the patients (33% of three tropins and 17 % of two). Brain MRI showed hypoplastic adenohypophysis, absence of stalk and ectopic neurohypophysis (58%). Conclusions: Our observations support the fact that deficiencies in contraregulatory hormones are a cause of persistent neonatal hypoglycemia, which may be acute and early. Although the diagnosis canbe made with high degree of accuracy with biochemical tests, the presence of clinical signs (hypoglucemia or micropenis) can contribute to an early diagnosis.