SAT-235 - An Abdominal Mass Causing Precocious Puberty: Uncovering A Rare Granulosa Cell Tumor in A 4-Year-Old

Introduction:
Precocious puberty in girls younger than seven years requires prompt hormonal evaluation to distinguish between GnRH-dependent from GnRH-independent causes. Acquired peripheral precocious puberty is rare, with an estimated prevalence of 14 per 1,000,000 children. Among its causes, juvenile granulosa cell tumor is an uncommon sex-cord stromal neoplasm that accounts for less than 0.1% of pediatric cancers and known to cause GnRH-independent precocious puberty in school-aged girls.

Clinical

Case:
A previously healthy 4-year-old female presented to the PCP with premature thelarche, vaginal discharge and growth acceleration (height velocity 13.6 cm/yr). Parents also noted abdominal enlargement and weight gain of ~10 pounds over the last nine months. The physical exam showed a distended abdomen with a firm, non-tender mass that extended from the pelvis to the upper abdomen. Abdominal ultrasound showed a large multi-loculated cystic mass that prompted referral to the emergency department. Pelvic MRI showed an 8.4 x 18.4 x 15.3 cm multiloculated multi-cystic mass extending from the pelvis to the abdomen. Endocrinologic lab evaluation was significant for pubertal estradiol level of 214 pg/ mL ( < 20 pg/mL), FSH < 0.03 mIU/mL (0.63-4.05 mIU/mL), LH < 0.04 mIU/mL ( < 0.33 mIU/mL) and inhibin B 3,135 pg/mL (<=182 pg/mL), consistent with peripheral estrogen excess. Additional endocrine studies, including thyroid function tests, morning cortisol, free/total testosterone levels and beta hCG were within reference range. She underwent a left ovarian mass resection with left salpingo-oophorectomy and excision of a right adnexal cyst. Histopathology was suggestive of juvenile granulosa cell tumor. Post-operatively she experienced transient breakthrough vaginal bleeding that resolved spontaneously without additional intervention. She has ongoing follow ups with endocrinology and oncology.

Clinical Lesson:
This case highlights the importance of evaluating rapid-onset precocious puberty in young children, especially in those with significant elevation of estradiol and suppressed gonadotropins. Pelvic imaging is important for identifying rare causes such as estrogen-secreting neoplasms like juvenile granulosa cell tumors. These large tumors may present before adolescence, and early identification allows definitive surgical management that leads to clinical regression of puberty.

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