Background: Congenital adrenal hyperplasia (CAH) may cause early maturation of hypothalamicpituitarygonadal axis when the initiation of corticosteroid treatment is late or/and there is poor compliance. The latter sometimes leads to a lack of treatment. In most cases, if the child survives, he or she develops central precocious puberty.
Case report: We present a 12-year-old boy born of a normal pregnancy and delivery. In the first months of life he was admitted to childrens wards with poor weight gain, vomiting and electrolyte abnormalities. He was thought to have dehydration and treated with electrolyte solutions. At the age of 6 the boy had testicular enlargement and premature pubarche, but no medical advice was requested. When the child was 9 years old the family was born another male with CAH. This led to the diagnosis of toddler with CAH and precocious puberty. At that time he already had advanced pubertal development with testicular volume 25 ml; penis of 11/3 cm and pubic hair Tanner stage grade V. Levels of 17-OHP and sex hormones were high. However, the boy was not followed up and his parents refused the prescribed therapy. His present age is 12 years, height and weight are 156 cm (0.73 SDS) and 54 kg (1.05 SDS). Serum concentration of 17-OHP is 2551 nmol/l (normal range <30 nmol/l), sex hormone levels are typical for puberty. His pubertal development Tanner stage is grade V. Bone age is 17 years, growth plates are closed. His final height will remain low.
Conclusion: Timely diagnosis of CAH, as well as good compliance are crucial for normal physical development and prevention of central precocious puberty, short stature, psychological disturbances, and bad quality of life.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology