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.