Hipopituitarismo congénito: reporte de un caso y revisión de la literatura

Research since the late XXth century has brought considerable advances in understanding the development of the pituitary gland. This is a complex process that is closely regulated by specific transcription factors such as PROP1, PIT1 (POU1F1), HESX1, LHX3 and LHX4. Mutations in their genes result in different degrees of hypopituitarism or combined non-acquired pituitary hormone deficiency that may or may not be associated with central nervous system disorders. Clinical manifestations are broad-spectrum, with variable involvement, rendering the diagnosis difficult. We report the case of a newborn with persistent neonatal hypoglycaemia in whom a combined non-acquired deficiency of pituitary hormones or hypopituitarism was diagnosed. We documented GH and ACTH deficiencies. The patient presented improvement when he was started on hydrocortisone and GH. We review here the literature on pituitary embryogenesis, transcription factors and combined non-acquired pituitary hormone deficiency.