Background: Adrenocortical Carcinoma (ACC) represents 0.16% of all pediatric neoplasm in children, 0-14.9 years, diagnosed between 1984-2010 according to Swedish Childhood Cancer Registry. ACC is most frequent in girls below 4 years of age.
Case: A physically active 14 years old girl was referred due to growth velocity 0 cm over the last year. Her history revealed substantial weight gain (photos), pubertal arrest premenarche and increased body hair.
Clinical signs: Cushing Syndrome with increased abdominal fat, hirsutism, acanthosis nigricans and acne in face and shoulders. Height 160.4 cm, weight 62 kg, BMI 24.1 and pubertal stage Tanner B3, PH5.
Investigation: Serum-lab: Cortisol 521 nmol/L, Testosterone 3.7 nmol/L (<1.8), DHEAS 15.4 µmol/L (1.8-10.0), 17-OHP 2.3 nmol/L (< 5-18).
At midnight ACTH <0.3 pmol/L (1.5-14), Cortisol 542 nmol/L (<50), without diurnal variation.
Dexamethasone suppression test 1 mg and 9hrs later: morning S-Cortisol 632 nmol/L and Saliva Cortisol 9.85 nmol/L (<3).
24hrs U-Cortisol 1406 nmol/L (<170), U-Steroid profile showed high androgen and cortisol production. Genetic syndromes as Beckwith-Wiedemann, Li-Fraumeni, MEN1 and Carney Complex that predispose for cancer development were excluded. MRT of the adrenals shows a non-fatty 5x5x4 cm tumour in the right adrenal.
Treatment: Surgery: The tumour was resected together with the right kidney and a part of the liver. Pathologists found an adrenocortical carcinoma invading the capsule of the liver. No sign of metastasis or rest-tumour was shown by Metomidate-PET.
Chemotherapy: 8 blocks of multiple drug chemotherapy for 6 months, combined with 18 months of mitotane treatment for inhibiting steroid synthesis and for cytotoxic effect on the adrenal cortex. Hydrocortisone replacement started directly postoperative and continues. The therapeutic window for mitotane was difficult to maintain due to side effects, especially nausea. Mitotane is stored in the fat tissue and released during weight loss, resulting in mitotane remaining in suppressive serum concentration for 20 months after end of treatment.
Observation time is presently 4.5 years with no sign of relapse.
Summary: A case of non-syndromic adrenocortical carcinoma in a 14 years old girl presenting with growth failure and Cushing syndrome. Mitotane treatment was challenging with the substance still detectable in suppressive serum concentration during 20 months after end of treatment. Ongoing hydrocortisone replacement will probably be lifelong.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology