Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Br J Haematol. 2021 Jun;193(6):1238-1246. doi: 10.1111/bjh.17545. Epub 2021 May 21.
Reproductive health may be adversely impacted in women with dyskeratosis congenita (DC) and related telomere biology disorders (TBD). We evaluated gynaecological problems, fertility, and pregnancy outcomes in 39 females aged 10-81 years who were followed longitudinally in our DC/TBD cohort. Twenty-six had bone marrow failure and 12 underwent haematopoietic cell transplantation. All attained menarche at a normal age. Thirteen women reported menorrhagia; ten used hormonal contraception to reduce bleeding. Nine experienced natural normal-aged menopause. Gynaecological problems (endometriosis = 3, pelvic varicosities = 1, cervical intraepithelial neoplasia = 1, and uterine prolapse = 2) resulted in surgical menopause in seven. Twenty-five of 26 women attempting fertility carried 80 pregnancies with 49 (61%) resulting in livebirths. Ten (38%) women experienced 28 (35%) miscarriages, notably recurrent pregnancy loss in five (19%). Preeclampsia (n = 6, 24%) and progressive cytopenias (n = 10, 40%) resulted in maternal-fetal compromise, including preterm (n = 5) and caesarean deliveries (n = 18, 37%). Gynaecological/reproductive problems were noted mainly in women with autosomal-dominant inheritance; others were still young or died early. Although women with TBDs had normal menarche, fertility, and menopause, gynaecological problems and pregnancy complications leading to caesarean section, preterm delivery, or transfusion support were frequent. Women with TBDs will benefit from multidisciplinary, coordinated care by haematology, gynaecology and maternal-fetal medicine.
先天性角化不良症（DC）和相关端粒生物学疾病（TBD）可能会对女性的生殖健康产生不利影响。我们评估了 39 名年龄在 10-81 岁之间的女性的妇科问题、生育能力和妊娠结局，这些女性在我们的 DC/TBD 队列中进行了纵向随访。26 人患有骨髓衰竭，12 人接受了造血细胞移植。所有人都在正常年龄初潮。13 名女性报告月经过多；10 人使用激素避孕来减少出血。9 人经历了自然正常年龄的绝经。妇科问题（子宫内膜异位症=3、盆腔静脉曲张=1、宫颈上皮内瘤变=1、子宫脱垂=2）导致 7 人手术绝经。26 名试图生育的女性中有 25 人怀孕 80 次，其中 49 次（61%）分娩活产。10 名（38%）女性经历了 28 次（35%）流产，特别是 5 名（19%）女性反复流产。子痫前期（n=6，24%）和进行性细胞减少症（n=10，40%）导致母婴并发症，包括早产（n=5）和剖宫产分娩（n=18，37%）。妇科/生殖问题主要发生在常染色体显性遗传的女性中；其他人还年轻或早逝。尽管 TBD 患者有正常的初潮、生育能力和绝经，但妇科问题和妊娠并发症导致剖宫产、早产或输血支持很常见。TBD 患者将受益于血液学、妇科和母胎医学的多学科、协调护理。
