A 7-year-old girl is brought to the office due to breast development that has occurred over the past 6 months. Her parents are concerned that she appears older than her classmates. An episode of vaginal spotting 2 months ago resolved after 3 days. She has had no headaches or visual changes. The patient has no chronic medical conditions and has had no surgeries. She takes no daily medications and has no allergies. Height and weight are at the 98th and 70th percentiles, respectively. Physical examination shows Tanner stage 3 breast development. The abdomen is soft and moderately distended and a palpable fullness is present in the pelvic region. Bone age is advanced at age 10. Pelvic ultrasound reveals a large right-sided adnexal mass. Which of the following is the most likely diagnosis in this patient?

Question

A 7-year-old girl is brought to the office due to breast development that has occurred over the past 6 months.  Her parents are concerned that she appears older than her classmates.  An episode of vaginal spotting 2 months ago resolved after 3 days.  She has had no headaches or visual changes.  The patient has no chronic medical conditions and has had no surgeries.  She takes no daily medications and has no allergies.  Height and weight are at the 98th and 70th percentiles, respectively.  Physical examination shows Tanner stage 3 breast development.  The abdomen is soft and moderately distended and a palpable fullness is present in the pelvic region.  Bone age is advanced at age 10.  Pelvic ultrasound reveals a large right-sided adnexal mass.  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

11ec25c8_d9cd_4cd1_bc81_755d27462c2e_MD0003_00 This patient's precocious puberty (ie, secondary sexual characteristics in girls age <8) and large adnexal mass are due to a granulosa cell tumor, a type of ovarian sex cord-stromal tumor. The ovarian stroma, composed of granulosa and theca cells, produces the ovarian estrogen supply. Granulosa cells convert testosterone to estradiol (via aromatase) and secrete inhibin (which blocks FSH release); therefore, uncontrolled proliferation of these cells, as seen in a granulosa cell tumor, results in high estradiol and inhibin levels. In girls with a juvenile-subtype granulosa cell tumor, the increased estrogen causes peripheral precocious puberty. Therefore, patients often have early-onset breast development, vaginal bleeding due to endometrial proliferation, and an advanced bone age (>2 standard deviations of chronologic age). Granulosa cells Sex cord-stromal tumors, including the juvenile-subtype granulosa cell tumor, are usually diagnosed at an early cancer stage (eg, tumor confined to the ovary); therefore, most young patients can be managed with a unilateral salpingo-oophorectomy. Patients often have a low recurrence risk and are able to maintain future fertility. (Choice A) Dysgerminomas are germ cell tumors that contain cells that differentiate into syncytiotrophoblast cells of the placenta. Therefore, dysgerminomas can secrete lactate dehydrogenase or β-hCG. They do not cause precocious puberty. (Choice C) Mature teratomas (dermoid cysts) are benign germ cell tumors composed of endodermal, mesodermal, and ectodermal tissue. Mature teratomas do not typically secrete estrogen; however, some may secrete thyroid hormone (ie, struma ovarii). (Choice D) Serous cystadenomas are benign ovarian epithelial tumors. Because they are not derived from ovarian stromal cells, they are not associated with elevated estrogen levels and do not cause precocious puberty. (Choice E) Sertoli-Leydig cell tumors are ovarian sex cord-stromal tumors that produce androgens (eg, testosterone, androstenedione); patients with these tumors typically have virilization (eg, amenorrhea, deepening voice, clitoromegaly). (Choice F) Yolk sac tumors, an ovarian germ cell tumor, are formed by cells that differentiate into the fetal yolk sac and gastrointestinal tract, which synthesize alpha-fetoprotein. Patients with these tumors have high alpha-fetoprotein levels. There is no associated precocious puberty. Educational objective: Granulosa cell tumors, a type of ovarian sex cord-stromal tumor, secrete high levels of estrogen and inhibin. Therefore, juvenile-subtype granulosa cell tumors typically present with precocious puberty and an adnexal mass. References: Granulosa cell tumor of the ovary: tumor review. (http://www.ncbi.nlm.nih.gov/pubmed/18815151) Juvenile granulosa cell tumor of the ovary: a clinicopathologic study. (http://www.ncbi.nlm.nih.gov/pubmed/27702598) Juvenile granulosa and theca cell tumor of the ovary as a rare cause of precocious puberty: case report and review of literature. (http://www.ncbi.nlm.nih.gov/pubmed/20371195)

A 7-Year-Old Girl Is Brought to the Office Due to Breast