Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders where the cortisol biosynthesis is impaired. There are two forms of CAH: the classic form, which includes the salt-wasting and the simple virilizing forms, and the nonclassic form. CAH due to 21-hydroxylase deficiency accounts for 95% of cases. Treatment of the classic form of CAH is targeted at replacing cortisol and aldosterone and effectively controlling excess androgen symptoms by using the lowest possible glucocorticoid dose. We present the case of a 9 and a half-year-old boy, with no other medical history, who has been followed-up in our Department since the age of 2 months for CAH, salt wasting form. In spite of excellent compliance to treatment with hydrocortisone (1015 mg/m2/d) and fludrocortisone (0.050.1 mg/d) he had always presented with high levels of corticotrophin, 17-hydroxyprogesterone and androstenedione with normal dehydroepiandrosterone sulfate levels and his bone age is advanced by 3 years since the age of 3. At the age of 8 years and 8 months the diagnostic of central precocious puberty was established (Tanner Stage III, accelerated growth velocity since 7 and a half years, high values of LH and testosterone with positive Triptorelin test confirming the diagnostic) and we initiated treatment with Methylprednisolone 1mg/d at bedtime in order to suppress nighttime corticotrophin secretion and with Anastrozole 1 mg/d in order to decrease the subsequent bone age advancement. Two months later we documented a significant decrease in 17-hydroxyprogesterone levels with normalization of androstenedione and testosterone, but with a persistently high LH level and we initiated the treatment of central precocious puberty with gonadotropin-releasing hormone analogue Triptorelin 3.75 mg/month. At the 6 months follow-up we identified a reduction of growth velocity with no clinical progression of puberty, along with a further decrease in 17-hydroxyprogesterone levels with prepubertal values of both LH and testosterone.
18 - 21 May 2019
European Society of Endocrinology