Turner's mosaic/thrombocytopenia

From: Laurie Lovely (llovely@med.unc.edu)
Wed Jun 4 10:20:30 1997


Dear Listers, I am now seeing an obese 14-year-old girl with short stature who was diagnosed with 46XX/45X karyotype after bone marrow analysis during workup of her thrombocytopenia. She is also an insulin-dependent diabetic. The hematologists have been unable to fully characterize her thrombocytopenia, but they suspect it is an X-linked form. The thrombocytopenia appeared to improve somewhat with initiation of her growth hormone treatment (begun after her karyotype was determined), but she still has wild swings in her platelet levels.

The problem is that she has begun to have vaginal bleeding. Her gonadotropins are currently in the normal range with normal estradiol, so I believe she is having ovarian function. A transabdominal ultrasound during an episode of her bleeding showed an endometrial stripe of 3 mm. She has been taking continuous oral contraceptives for 2-1/2 months but has continued to have sporadic episodes of bleeding, usually correlated with platelet nadirs. Since she has a high-maintenance medication regimen already (growth hormone, insulin), I would like to keep her meds as simple as possible (i.e., avoid monthly Depot-Lupron with add-back therapy). If anyone has experience in managing a related problem, I would love to hear suggestions. This patient, her mother, and I thank you in advance.

--
Laurie Lovely, MD
RE fellow, UNC-Chapel Hill




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