What is the most likely diagnosis for a 7-year-old girl with precocious puberty, presenting with Tanner stage 3 breast development, advanced bone age, and a large right-sided adnexal mass on pelvic ultrasound?

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Differential Diagnosis for Precocious Puberty with Adnexal Mass

  • Single most likely diagnosis
    • Juvenile Granulosa Cell Tumor: This is the most likely diagnosis given the presence of a large right-sided adnexal mass and precocious puberty. Juvenile granulosa cell tumors are known to produce estrogen, leading to signs of precocious puberty such as breast development and vaginal spotting.
  • Other Likely diagnoses
    • Ovarian Germ Cell Tumor: Although less common, ovarian germ cell tumors can also produce hormones leading to precocious puberty. The presence of an adnexal mass makes this a plausible diagnosis.
    • McCune-Albright Syndrome: This syndrome is characterized by precocious puberty, café-au-lait spots, and fibrous dysplasia of bone. While the presence of an adnexal mass is not typical, the syndrome can cause ovarian cysts that may be mistaken for a tumor.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
    • Yolk Sac Tumor: A type of ovarian germ cell tumor that can produce alpha-fetoprotein (AFP) and cause precocious puberty. It is aggressive and requires prompt treatment.
    • Sex Cord-Stromal Tumor: This category includes tumors like Sertoli-Leydig cell tumors, which can produce androgens or estrogens, leading to precocious puberty. They are rare but can be malignant.
  • Rare diagnoses
    • Peutz-Jeghers Syndrome: An autosomal dominant disorder characterized by intestinal polyps and an increased risk of certain cancers, including sex cord-stromal tumors. Precocious puberty can occur due to hormone-producing tumors.
    • Ovarian Cyst: Simple ovarian cysts are common in children but are less likely to cause significant precocious puberty or be as large as described. However, they can occasionally produce estrogen, leading to breast development.

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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