Introduction: Excessive androgen secretion from gonads, adrenal gland and tumors arising from germ cells lead to gonadotropin independent precocious puberty in male and virilization in females. Rapid progression of symptoms with peripheral precocity need urgent evaluation to identify the underlying etiology. We report three cases of malignancy with excess androgen secretion within a year in a tertiary care children hospital in Sri Lanka.
Case 1 4 year old boy presented with iso-sexual precocious puberty, cushingoid feature and abdominal distension for six months duration. Examinations revealed a left side abdominal mass. Imaging showed L/adrenal mass without metastatic spread. He had high dihydro epi andro steridione (DHEA) and testosterone. He underwent tumour resection. Histology revealed adrenocortical carcinoma (ACC). He is been followed up with three monthly DHEA and USS abdomen to look for tumour recurrence. ACC is a rare but very dangerous cancer of the adrenal gland. It is found in 1 in million people and is common before 10 years in children.
Case 2: 13 year old girl presented with virilization. She had elevated alpha feto protein and testosterone. Imaging revealed soft tissue mass arising from right ovary without distance metastasis. She underwent right side salpingo oophorectomy with left side ovarian biopsy. Histology revealed, bilateral sertoli ladyig cell tumor (SLCT). She was referred to oncologist for chemotherapy and subsequently planned for left side salpingo oophorectomy. SLCT is a rare sex cord-stromal tumor. Prevalence is less than 0.5% of all primary ovarian neoplasms. 75% reported cases are in the second and third decades of life. SLCT affecting bilateral ovaries are extremely rare and account for only 1.52.0% of all the cases.
Case 3: 8 year old boy presented with peripheral precocious puberty. He had high testosterone and elevated β HCG. Ultra sound showed testicular microlithiasis. His brain and abdominal imaging with CT and MRI were normal. Even though the chest x-ray didn't have mediastinal widening, CT thorax showed an anterior mediastinal mass. He underwent video assisted throracoscopic biopsy. Surgical resection was carried out as the frozen sections were inconclusive. Histology revealed seminoma without other evidence of germ cell components. He received cisplatin based chemotherapy for his seminoma. Extra gonadal germ cell tumors (EGGCTs) are rare with the incidence of 1 in 1,000,000.
Conclusion: High degree of clinical suspicious along with biochemical and radiological investigations help to diagnose very rare virilizing tumors.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology