- Thomas Reinehr,
- Juliane Rothermel,
- Andreas Wegener-Panzer,
- Michaela F Hartmann,
- Stefan A Wudy,
- Paul-Martin Holterhus
Horm Res Paediatr 2018 Apr 25:1-7. Epub 2018 Apr 25.
Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel/Christian Albrecht University of Kiel, CAU, Kiel, Germany.
We present a boy with a genetically proven congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. While massively elevated 17-hydroxyprogesterone (17-OHP) concentrations after birth led to the diagnosis, 17-OHP concentrations became immeasurable starting with the second year of life even though the dose of hydrocortisone was continuously decreased to ∼7 mg/m2/day. Furthermore, 17-OHP levels were immeasurable during the ACTH test and after withdrawing hydrocortisone medication. Read More