Rare Diseases Symptoms Automatic Extraction

Ovarian cysts in prepubertal girls.

[aromatase deficiency]

Visualization of follicles is perfectly physiological during childhood, their diameter generally does not exceed 10 mm. Ovarian cyst in childhood is well defined for a fluid image >20 mm. Generally mild and asymptomatic, ovarian cysts are fluid formations usually discovered incidentally by ultrasound. Some are hormonally active and cause the development of sexual characteristics. The natural history of functional cysts is eventual regression, and persistence is suggestive of organic tumor. The onset of pain is a sign of complication, and an abrupt sharp pain with vomiting is suggestive of ovarian torsion, in which case surgical intervention is urgent. In all cases, the diagnosis is based on pelvic ultrasound. MRI and tumor marker assays are required to determine the nature of an organic cyst before proceeding to surgery. These cysts may appear functional from the fetal period onward and will require management from the first days of life. Certain endocrine disorders such as precocious puberty, hypothyroidism, and aromatase deficiency cause functional cysts in girls. Recurrent bleeding is due to hormonally active cysts and suggests McCune-Albright syndrome. Although the persistence of a cyst suggests a neoplasm, a fluid character indicates benignity. Imagery is a useful aid in the diagnosis of epithelial tumors (cystadenomas) or teratoma (dermoid cyst).

Diseases presenting "will require management from the first days of life" symptom

  • aromatase deficiency

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