title: [Neonatal cholestasis and hypoglycemia like form of congenital hypopituitarism presentation].
abstract: Congenital hypopituitarism is a rare disease, of variable clinic. The neonatal hypoglycemia is one of the habitual forms of presentation; the cholestasis is a rare symptom of this disease. This is the case of a 2-months-old infant hospitalized for cholestatic jaundice. He added repeated episodes of severe hypoglycemia. We investigated metabolic and endocrine causes. The etiology was clarified by obtaining a critical sample that demonstrated the counterregulatory hormone deficiency. The diagnosis of congenital hypopituitarism was completed with confirmation of thyroid hormone and growth hormone deficiencies. It was confirmed the neuro-anatomical defect of “syndrome of pituitary stalk section” determined by pituitary stalk agenesis, pituitary hipoplasia, and ectopic neurohypophysis. Hormone replacement therapy was started with good response and outcome.
authors.affiliation: Facultad de Medicina, Universidad de La República, Departamento de Pediatría y Especialidades, Hospital Pediátrico, Centro Hospitalario Pereira Rossell, Montevideo, Uruguay. kmachado30@gmail.com
authors.forename: Maren K
authors.initials: MK
authors.lastname: Machado
authors.forename: Alejandra
authors.initials: A
authors.lastname: Bernardini
authors.forename: Gustavo
authors.initials: G
authors.lastname: Giachetto
mesh_terms: D002779:Cholestasis / Q000209:etiology*; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology*; D007018:Hypopituitarism / Q000150:complications* / Q000151:congenital* / Q000175:diagnosis; D007223:Infant; D008297:Male