Endocrine Abstracts

JOINT2159

Introduction: Adrenocortical tumors (ACTs) are rare in childhood, and most are functional, leading to endocrine symptoms. ACT should be considered in the differential diagnosis of children presenting with precocious puberty and/or Cushing syndrome. This report describes the diagnosis and treatment of two pediatric cases.

Case 1: A 3-year-old male patient with a history of left hemihypertrophy was referred due to the rapid (14-day) development of moon face and acanthosis nigricans(AN). On physical examination, weight:17 kg(0.5 SD), height:100 cm(-0.1 SD) with cushingoid face, AN on the neck and left hemihypertrophy. Laboratory investigations revealed hypercortisolism. A 40×38 mm heterogeneous mass in the left adrenal gland, with no invasion, poor fat content, and no calcifications reported on MRI. Following a multidisciplinary team discussion, the etiology of hypercortisolism was ACT, and the patient underwent left adrenalectomy. Histopathological examination confirmed a solid neoplasm with a Ki-67 index of 10%, without metastasis or invasion. During follow-up, the patient’s physical examination was unremarkable, except for persistent left hemihypertrophy. Genetic analysis for Beckwith-Wiedemann syndrome yielded normal results, and further investigations are ongoing.

Case 2: A 2-year-old girl was referred to the oncology clinic due to an abdominal mass detected during examination for abdominal pain. MRI showed a heterogeneous 82×87×107 mm mass in the right adrenal gland, with hemorrhage, calcifications, and liver compression, reported as neuroblastoma. Tru-cut-biopsy revealed an ACT (Ki-67: 7-8%), and the mass was deemed inoperable due to compression of the IVC and portal vein. The patient developed hypertension after biopsy, managed with amlodipine. The case was referred to our clinic for further evaluation. History revealed genital hair development at 6 months, intermittent vaginal discharge, increased hair growth, and breast development over the past month. Family history included pancreatic and colon cancer. On examination: weight:10.6 kg (-0.92 SD), height:85 cm (-0.51 SD), BP 140/90 (>99th percentile), Tanner stage 3 breast/pubic hair, and distended abdomen with palpable liver (8 cm) with no clitoromegaly. Surgery was deemed unsuitable and chemotherapy was initiated per the multidisciplinary team’s decision. Genetic analysis for TP53 variant is ongoing.

Conclusion: Although rare, ACTs must be considered in the differential diagnosis ofchildren presenting with hormonal excess. Importantly, biopsy is contraindicated due to the risk of tumor cell dissemination, which worsens the prognosis. Thus, a multidisciplinary approach to ensure accurate diagnosis and optimal management is important. Early recognition is critical, as timely diagnosis and intervention can significantly impact prognosis.