Obstetric and Gynecologic Health in Patients with Xeroderma Pigmentosum. M. Merideth1, D. Tamura2, J. DiGiovanna2, K. Kraemer2 1) Medical Genetics Branch, NHGRI, NIH, Bethesda, MD; 2) Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD.

   Objective: To evaluate the obstetric/gynecologic health in women with xeroderma pigmentosum (XP) Background: XP is a rare autosomal recessive DNA repair disorder with marked sun sensitivity, freckle like skin pigmentation and 1000-fold increase in UV-induced skin cancer. About 25% of XP patients also have progressive neurological degeneration. There are 7 XP nucleotide excision repair complementation groups (XP-A to XP-G) and an XP variant with defective DNA polymerase eta. There is little information available about the obstetric and gynecologic issues in this patient population. Methods: Twenty XP females (2 XP-A, 5 XP-C, 4 XP-D, 4 XP/TTD, 2 XP-E, 1 XP-variant, 2 unknown) were examined at the NIH from 2004 to 2014. Evaluation included ob/gyn history, medical record review, physical exam, blood testing and pelvic imaging, if medically indicated. Results: The patients ranged in age from 9-52 years; median age at menarche was 13 years (range 9-16.5, n=14). Thirteen of the patients reported monthly menses and 2 reported less frequent menses. Menstrual flow ranged from 3-20 days (median=5 days); 5 patients reported heavy flow, 7 reported dysmenorrhea, and 1 had premenstrual syndrome. One patient had precocious puberty and 1 XP-V patient had infertility. FSH (n=19) and estradiol (n=16) levels were in the expected range except for 3 XP-C patients with premature ovarian insufficiency. Nine XP patients were pregnant with a total of 22 pregnancies; of these, 3 resulted in early miscarriage; 1 XP/TTD patient had an emergent Cesarean section (C/S) for uterine rupture at 20 weeks, a C/S for placenta previa at 31 weeks and a C/S at term; the remaining 16 pregnancies resulted in normal vaginal deliveries at term. Four patients out of 13 had mild cervical abnormalities on Pap smear, 3 of which were treated with cryotherapy. One patient had a dysplastic nevus on the vulva and 1 patient had an invasive SCC of the jaw diagnosed during pregnancy. Conclusions: Our pilot study suggests an increased risk of premature ovarian insufficiency, precocious puberty, possible increase in growth of neoplasms during pregnancy and, as seen in mothers of TTD patients, increased pregnancy complications in XP/TTD patients. We did not observe an increased risk of menstrual irregularities or dysplasia of the cervix. The finding of a vulvar dysplastic nevus emphasizes the importance of including the external genitalia as part of the routine skin exam of XP patients.

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