Endocrine Abstracts

JOINT1089

Background: Congenital adrenal hyperplasia (CAH) has been associated with adrenal tumors (ATs). International guidelines recommend against routine adrenal imaging in adult with CAH.

Objective: To report a case of 6.4-year-old boy with salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH 21OHD SW) complicated with adrenal tumor.

Methods: Case study.

Result: A 6.4-year-old boy of non-consanguineous Chinese parents with CAH 21OHD SW went to our clinic for a regular endocrinological follow-up. 17OHP was 125ng/ml in newborn screening. At the age of 4 weeks, he was diagnosed with CAH 21OHD SW confirmed by genetic analysis and treated with oral hydrocortisone and fludrocortisone. His CAH was being adequately managed with normal linear growth and skeletal maturation with properly adherent to therapy. The adrenal ultrasound did not show abnormalities 5.5 months ago. On physical examination, height 116cm, weight 20kg, BP 90/60mmHg. Slightly increased skin pigmentation was noted, normal male prepubertal external genitalia was observed. Laboratory tests showed FSH 0.7 IU/l, LH 0.12 IU/l, E2 <10 pg/ml, T <0.13 ng/ml, P 0.5 ng/ml. Serum 17OHP 11.54 ng/ml, A4<1.05nmol/l, Renin 8AM (supine) 12.4 UIu/mL. Normal serum AFP, ferritin and 24h urine VMA were normal with slightly elevated NSE 22.06 ng/ml. Ultrasound showed a right adrenal soft-tissue mass measuring 4.3×3.2cm. CT scan demonstrated a right adrenal soft-tissue mass measuring 3.9×3.1cm. The mass was between the right adrenal gland and the anterior part of the upper pole of the right kidney, with a clear boundary, small punctate calcification. A few patchy enhancement shadows supplied by a small branch of the abdominal aorta in the enhanced scan. The upper edge of the mass is not clearly demarcated from the lower edge of the lateral limb of the right adrenal gland. Though the mass was non-functional according to the laboratory, we decided manage the patient surgically due to the mass rapidly growth. During the open surgical approach, it was found that the right AT was hard and elastic with a clear boundary measuring 5*5*3cm. A pathology report indicated ganglioneuroma. He was followed up in our clinic at regular intervals, and was last seen about 2 years postoperatively without clinical evidence of recurrence.

Conclusion: This paper firstly reports a 6.4-year-old boy with CAH 21OHD complicated with adrenal ganglioneuroma. This benign tumor rarely occurring in CAH patients. It is recommended that imaging monitoring of ATs be an important issue of CAH management.

Key words: Congenital adrenal hyperplasia, Adrenal tumor, Monitoring.