Ovarian Granulosa cell Tumor in a Patient with a Pathogenic Variant in the CDC73 Gene (Hyperparathyroidism-Jaw Tumor Syndrome)
نویسندگان
چکیده
منابع مشابه
Hyperparathyroidism-jaw tumor syndrome.
BACKGROUND Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare autosomal dominant multiple tumor syndrome characterized by hyperparathyroidism due to single or multiple-gland parathyroid tumor(s). Since it was first described in 1990, the genetics underlying the syndrome have been elucidated and typical clinical presentations are becoming clarified as literature describing this rare entit...
متن کاملHyperparathyroidism-jaw tumor syndrome: a case report.
We report the clinical and genetic findings in a 23-year-old woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT). The patient had a family history of primary hyperparathyroidism (PHPT) and uterine fibroma in her mother. The patient presented muscle weakness. The diagnosis of PHPT was confirmed by an elevated parathyroid hormone level above 1450 pg/ml with hypercalcemia and hypercalciuria...
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Leydig stromal cell tumor is a rare ovarian tumor that belongs to the group of sex-cord stromal tumors. They produce testosterone leading to hyperandrogenism. We present a 41yr old woman with symptoms of virilization and a mass of right adenex via ultra Sonography, and a rise of total and free serum testosterone. An ovarian source of androgen was suspected and a surgery performed. A diagnosis ...
متن کاملEarly Puberty Due to Ovarian Granulosa Tumor
A 7½-year-old girl is reported showing precocious puberty and large abdominal mass for a year. The right ovarial cyst removed by surgery revealed histopathologically a granulosa cell tumor. After removal of the tumor the estrogens were still increased and the signs of puberty showed no regression. This seems to be due to the hormonal activity of the metastases. Liver metastasis was present a...
متن کاملMalignant Ovarian Steroid Cell Tumor: A Very Rare Tumor in Children
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ژورنال
عنوان ژورنال: AACE Clinical Case Reports
سال: 2019
ISSN: 2376-0605
DOI: 10.4158/accr-2018-0555