Background: Congenital hypopituitarism (CH) in the neonate which manifests as the deficiency of one or more pituitary hormones can be presented by a highly variable phenotype. Either as isolated hypopituitarism or with associated developmental defects such as ocular, midline, and genital abnormalities. Mutations in genes encoding for a number of transcription factors have been described in a minority of patients with CH. This indicats that further genes remain to be identified. This is the case of a 2-months-old infant hospitalized for cholestatic jaundice.
Method: Clinical and anthropometric data were obtained. Biochemical liver function parameters, blood glucose, TSH, free thyroxin (FT4), GH, insulin-like growth factor-1 (IGF-1), cortisol, ACTH levels were analyzed. Laparoscopic liver biopsy and cholecystocholangiography were carried out. PROP1 gene (exons 1-3), LHX4 gene mutations were investigated by direct sequencing method.
Results: The boy was carried full term and born a healthy weight and lenght. The patient had craniofacial dysmorphisms and genital abnormality. Jaundice had started during the first week and had a prolonged course. In addition boy had repeated episodes of severe hypoglycemia. At the age of 2-month-old the non-specific giant cell hepatitis was revealed. The diagnosis of congenital hypopituitarism was completed with confirmation of FT4, ACTH, GH deficiencies. Genetic analyses were negative for y mutation in the PROP1 gene (exons 1-3), LHX4 gene. The boy takes hormone replacement therapy by hydrocortisone and L-thyroxin. As ACTH, FT4 deficiency were eliminated the hypoglycemic syndrome and hepatitis are disappeared.
Conclusion: In the case of neonatal liver dysfunction associated with hypoglycemia the diagnosis of CH should be excluded.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology