ESPE Abstracts

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive genetic disease. Simple virilizing (SV) - CAH in boys is characterised by accelerated longitudinal growth, penile growth, pubic and axillary hair growth and aromatic body odor. More often these patients have advanced bone age (BA) which limits their available time to grow and leads to near adult height below the average of the normal population. Longstanding androgen excess might lead to central precocious puberty in some cases.

Case presentation: We report a case of a 6-year-old boy patient who presented to our department of pediatric endocrinology at the age of 2.5 years for evaluation of penile growth (7/2 cm +2,5DS), tall stature (+2.81 DS), obesity, pubic hair, adult type odor, baby hair above the upper lip and morning and day erections. His hormonal profile revealed raised serum testosterone (0,9 ng/dl), DHEA-s (614 mcg/dl) and 17-OHP (19.8 ng/dl), low morning cortisol (22.6 mcg/dl) and a BAadvanced with 7 years raising CAH suspicion. The genetic diagnosis confirmed CYP21A2 mutation with compound heterozygous status P30 and P453S. Treatment with hydrocortisone and fludrocortisone was started. After 1 year of treatment, his height was 126.4 cm (+ 2.97 DS) and his PAH (predicted adult height) was 165.8 cm vs TH (target height) 175.5 cm (mother 178 cm father 158 cm). His PAH was with 10 cm lower than his TH. Even if his BA was advanced, his serum androgens had always been within the normal range with medication. Treatment with AI (aromatase inhibitor-anastrozole) was initiated. In the following evaluation, a growth in testicular volume was noticed from 1.1 cm3 (both testicles) to 1.7 cm3 (right testicle) and 1.3 cm3 (left testicle). Following the clinical exam, Anastrozole dose was increased due to his severely advanced BA and a GnRHa stimulation test was done. Peak LH did not exceed the cut-off: LH= 2.57 mlUI/ml (< 5mlUI/ml). Treatment with AI was continued and the addition of GnRHa to decelerate the bone maturation and prevent precocious puberty was considered.

Conclusion: This report shows a rare case of SV-CAH in which the treatment with AI did not stop the acceleration of bone maturation causing the predicted adult height to decrease. If there is a further increase in testicular volume, treatment with GnRHa will be considered.