Naslov
Unexpected outcome in treated XY reversal syndome patient
(Unexpected outcome in a treated XY reversal syndrome patient)

Autori
Fenzl, Vanja, Duić, Željko ; Popić Ramač, Jelena ; Škrtić, Anita

Izvornik
Acta clinica Croatica (0353-9466) 50 (2011); 603-607

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, case report, stručni

Ključne riječi
XY sex reversal syndrome; Gonadoblastoma; Hormone replacement therapy; Osteopenia

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA