Objective: To characterise clinical presentation of congenital isolated ACTH deficiency.
Methods and results: Clinical and anthropometric data were obtained. Biochemical liver function parameters, blood glucose, insulin, TSH, free thyroxin (FT4), GH, cortisol, and ACTH levels were analyzed. POMC and TBX19 genes were analysed by Sanger sequencing. The girl was born at full-term with normal weight and length. The parents are cousins. At birth craniofacial dysmorphisms and left-side clubfoot were present. At the age of 2 months hepatitis was diagnosed on the basis of elevated bilirubin and liver enzymes levels. At the age of 7 months the patient presented with severe hypoglycemia (blood glucose 10.9 mg/dl). Serum cortisol and ACTH levels were low: 15.9 nmol/l (reference 138635) and below 1.1 IU/ml (reference 1.810.2) respectively. Insulin, TSH, FT4, and GH levels were normal. Homozygous p.Q28X mutation in TBX19 gene was found in the child. The girls mother is healthy heterozygous carrier. After initiation of replacement therapy with hydrocortisone (10 mg/m2 daily) hypoglycemia and signs of hepatitis were resolved.
Conclusion: In the case of severe hypoglycemia associated with neonatal liver dysfunction the diagnosis of congenital isolated ACTH-deficiency should be considered.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology