Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0600142 (hot flushes)
 1,242 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hormone replacement therapy is mandatory to maintain quality of life and bone mineralization status in patients with gonadal dysgenesis. Occasionally, these patients need higher than recommended estrogen dosage to prevent signs and symptoms of hypoestrogenic state. Our 18-year-old female patient with XY sex reversal syndrome was gonadectomized and administered conventional hormone replacement therapy. Gonadoblastoma was found in the excised streak gonad. Five years after continuous replacement therapy, the patient reported unexpectedly hot flushes and amenorrhea in spite of regular hormone intake. Severe osteopenia was also detected. Unconventionally high estrogen dose was given with additional daily vitamin D and calcium supplement. Dual energy x-ray absorptiometry revealed lesser but evident osteopenia and the patient reported repeated bleeding without hot flushes on the new hormone regimen. Individualized dosage of estrogen is essential for these patients according to their bone status and subjective symptoms. Early therapy initiation along with continuous and frequent evaluation of bone status and quality of life is advised.
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PMID:Unexpected outcome in a treated XY reversal syndrome patient. 2264 94