Background: The exaggerated adrenarche is an extreme variant of the maturation of the adrenal cortex, often associated with hyperinsulinemia and obesity. Hyperandrogenism by congenital adrenal hyperplasia (CAH) and adrenal neoplasms are differential diagnoses.
Case report: Male, 8 years and 3 months, who came from another service with diagnosis of Precocious Puberty and Obesity, already being treated with Leuprolide acetate for 1 year and half. His complaint was weight gain and growth of body hair since 5 years old. Physical exam: cushingoid face, weight 52.5 kg (BMI 35.9 Z=+4.87), height 121.5 cm (z=−1.24), abdominal perimeter 99 cm, acne, gynecomastia, Acanthosis nigricans, Tanner stage P5G2, testicles=3 cm3. Initial exams: Bone age 10 years, ACTH=43 pg/ml, cortisol=7.6 mcg/dl, urinary cortisol=576 mcg/24 h, renina=1.2 ng/ml per hour, DHEAS=4080 ng/ml, adrenal ultrasound, abdomen computed tomography and pituitary gland magnetic resonance image were normal. Lab work-up: 17OHPregnenolone =1719 ng/dl e ACTH test results DHEAS T0=4080 ng/ml, T60=4260 ng/ml, Androstenediona T0=3.2 ng/ml, T60=4.6 ng/ml, 17OHProgesterone T0=0.6 ng/ml, T60=7.2 ng/ml. It was suggested the hypothesis of CAH due to 3-Hydroxysteroid Dehydrogenase, and therapy with corticosteroids was started, but turned out unsuccessful. Then exaggerated adrenarche associated with exogenous obesity was the hypothesis, and he started treatment with Metformin for insulin resistance (HOMA-IR =7.1), aromatase inhibitor due to the advanced bone age (BA =13 years 6 months CI =10 years 7 months) and GH replacement. The patient reached the final height of 161 cm (z=−1.43), and remains an outpatient.
Conclusion: Although it is a diagnosis of exclusion, the exaggerated adrenarche associated with obesity is becoming more common. However, the diagnosis is still a challenge.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology