Introduction: Oncocytomas are rare epithelial tumors that can be found in various tissues such as kidney, salivary and endocrine glands. Adrenocortical oncocytomas (AON) are very rare tumors with around 160 patients described in the literature. Generally they are regarded as benign and mostly hormonally nonfunctional. When hormonally active, these tumors produce adrenal steroids resulting in various clinical presentations such as virilization, feminization, and Cushing or Conn syndrome. Until now, only 8 pediatric patients with functional adrenocortical oncocytomas (FAON) have been described in literature.
Case Report: We report on a 15.5 year old girl referred for secondary amenorrhea lasting 8 months. Slowly progressive virilization was reported for almost 2 years. At presentation she had deep voice, acne, hirsutism (Ferriman-Gallwey score 22), clitoromegaly and atrophic breasts. Blood pressure was normal. Initial laboratory findings revealed marked hyperandrogenemia: testosterone 17.7 nmol/L (ref. 0.4-1.7), androstenedione 21.8 nmol/L (ref. 1-12), DHEAs 26.8 umol/L (ref. 2-10), with suppressed LH 0.1 IU/L, FSH 0.3 IU/L and estradiol 92 pmol/L. Serum and urinary cortisol as well as aldosterone and plasma renin activity were normal. Abdominal CT scan showed right adrenal gland mass measuring 4 cm in diameter. Subsequently laparoscopic right adrenalectomy with lymphadenectomy was performed. Pathohistological diagnosis revealed oncocytic adrenocortical tumor with benign characteristics according to Wieneke criteria and Bisceglia classification. Adrenal androgen levels normalized completely after the surgery and the girl regained menstruation 1.5 month following tumor extirpation.
Conclusion: In conclusion, AONs are very rare tumors with yet unidentified pathogenesis and potential risk factors for their development. They are mostly discovered in adults, but can also be found in children. There is no specific age distribution in children with FAON.
Unlike adults, all children with FAON presented with right sided adrenal mass and very strong female preponderance (8/9). Most of the patients with FAON (7/9), including our, presented with symptoms of androgen excess. All but one were pathohistologically classified as benign at the time of diagnosis. Follow-up time ranged from 1-84 months in children with FAON. None of them had signs of disease recurrence at that time.
Due to extreme rarity of this tumor in children and no clear evidence regarding its' true potential, long-term follow-up of these children should be recommended.
Since there are no specific guidelines regarding management of these patients, knowledge assembled from individual cases would provide better understanding.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology