National Human Genome Research Institute, National Institutes of Health, and the Laboratory of Cancer Biology and Genetics, Center for Cancer Research, and the Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland; and Howard University Medical Center, Washington, DC.
Obstet Gynecol. 2019 Oct;134(4):814-819. doi: 10.1097/AOG.0000000000003490.
To assess the age at menarche and menopause of women with xeroderma pigmentosum, a DNA repair disease with premature aging, in a longitudinal natural history study.
We conducted a natural history study that reviewed medical records for gynecologic and reproductive health of all female patients with xeroderma pigmentosum aged older than 9 years examined at the National Institutes of Health (NIH). We performed gynecologic and laboratory examinations on a subset of the patients. Women in a second subset, who could not be examined, were interviewed using a questionnaire. Women who were deceased or lost to follow-up formed a third subset.
Sixty females with xeroderma pigmentosum aged older than 9 years (median 29 years, range 10-61 years) were evaluated at the NIH from 1971 to 2018. Of these 60, 31 had history, questionnaire, record review, and gynecologic evaluation; 14 had record review and questionnaire interview by telephone; and 15 had only NIH record review. Menarche in females with xeroderma pigmentosum occurred at a median age of 12.0 years (range 9-17 years), which was comparable with the U.S. general population. Among the 18 patients with menopause, the median age at menopause of 29.5 years (range 18-49.5 years) was more than 20 years younger than in the U.S. general population (52.9 years). Premature menopause (before age 40 years) occurred in 14 of the 45 (31%) women aged 18 years or older, and primary ovarian insufficiency was documented in nine of them. There were 32 live births among 21 of the women, five of whom subsequently developed premature menopause.
Females with xeroderma pigmentosum in our study had a normal age at menarche and were fertile but had increased incidence of premature menopause. Premature menopause, a symptom of premature aging, should be considered for gynecologic and reproductive health as well as implicating DNA repair in maintaining normal ovarian function.
ClinicalTrials.gov, NCT00001813.
在一项纵向自然史研究中，评估 Xeroderma pigmentosum（一种具有早衰特征的 DNA 修复疾病）女性的初潮和绝经年龄。
我们进行了一项自然史研究，回顾了美国国立卫生研究院（NIH）检查的所有年龄大于 9 岁的 Xeroderma pigmentosum 女性患者的妇科和生殖健康的病历。我们对部分患者进行了妇科和实验室检查。对无法检查的另一部分患者，我们通过问卷调查进行了采访。无法接受检查的失访或死亡患者组成了第三部分。
1971 年至 2018 年，在 NIH 评估了 60 名年龄大于 9 岁的 Xeroderma pigmentosum 女性（中位数 29 岁，范围 10-61 岁）。其中 31 名患者有病史、问卷、病历回顾和妇科评估；14 名患者通过电话进行了病历回顾和问卷调查；15 名患者仅进行了 NIH 病历回顾。 Xeroderma pigmentosum 女性的初潮年龄中位数为 12.0 岁（范围 9-17 岁），与美国一般人群相当。在 18 名绝经患者中，29.5 岁（范围 18-49.5 岁）的绝经年龄比美国一般人群（52.9 岁）早 20 多年。在 18 岁及以上的 45 名女性中，有 14 名（31%）发生了过早绝经（40 岁之前），其中 9 名被诊断为原发性卵巢功能不全。在 21 名女性中，有 32 名生育了孩子，其中 5 名随后发生了过早绝经。
我们研究中的 Xeroderma pigmentosum 女性初潮年龄正常且具有生育能力，但绝经提前的发生率较高。作为早衰的一个症状，绝经应被视为妇科和生殖健康的一个考虑因素，并暗示 DNA 修复在维持正常卵巢功能中的作用。
ClinicalTrials.gov，NCT00001813。
