Endocrine Abstracts

JOINT1949

Introduction: Li-Fraumeni syndrome is a rare autosomal dominant disorder that predisposes carriers to numerous tumors, including adrenocortical carcinoma.

Case report: A 20-month-old girl was referred to our clinic because of obesity and premature pubarche. The symptoms started 4 months before examination. She was born at full term, birth weight 3550 gr (P 50-75th), birth length 52 cm (P50). First physical examination was as follows: height 93. 5cm (P>99, +3. 54 SD), weight 18. 7 kg, BMI 21. 4 kg/m2 (P99, +3. 39 SD), telarche Tanner 1, pubarche Tanner 2, discreetly enlarged clitoris. Initial laboratory findings were in reference range. Karyotype was 46, XX while the bone maturity corresponded to age. Testosterone levels and DHEAS levels were high (2. 32ng/ml and 4176. 9 mg/dl, respectively), FSH 0. 4 IU/l, LH 0. 2 IU/l, cortisole 480 nmol/l, estradiol 20. 4 pmol/l, progesterone 9. 28 nmol/l. Abdominal ultrasound showed solid oval tumor in the upper pole of the right kidney. Abdominal MRI confirmed limited expansive tumor of the right suprarenal gland, measuring 46x46x62mm (AP, LL, KK). The abdominal mass was completely removed. Histopathology findings showed that the mass was in fact adrenocortical carcinoma (ACC): CS I, pTNM> T2, Nx, Mx. Follow-up and treatment was carried out according to COG ARAR 0332 protocol, so the first follow-up was one month after surgical treatment. The hormone levels, abdominal ultrasound and chest x-ray were normal. As the tumor was under 100gr, with normal post-operative hormone levels it was stratified as stage one. Since the ACC is rare, the genetic analysis was carried out and showed germline mutation in the TP53 tumor suppressor gene, so the patient was diagnosed with Li-Fraumeni syndrome. After the diagnosis, the patient is being monitored in accordance with “Toronto protocol”: the hormone levels are checked every 6 months, abdominal ultrasound 3 every months and whole body and brain MRI once a year. Two and a half years after diagnosis the patient remains cancer free.

Conclusion: Adrenocortical carcinoma (ACC) is a rare malignant tumor that can cause precocious puberty. First and second stages have a good prognosis, while the third and fourth stages have a poor prognosis. Furthermore it can be a sign of a Li-Fraumeni syndrome that demands close monitoring of the patients due to higher probability of other malignant tumors.