Women's Hospital, HUS Helsinki University Hospital and University of Helsinki, P.O. Box 140, FIN-00029 HUS, Helsinki, Finland.
Children's Hospital, Pediatric Research Center, HUS Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Orphanet J Rare Dis. 2018 Nov 16;13(1):207. doi: 10.1186/s13023-018-0945-9.
Patients with cartilage-hair hypoplasia (CHH), a rare metaphyseal chondrodysplasia, manifest severe growth failure, variable immunodeficiency and increased risk of malignancies. The impact of CHH on gynecologic and reproductive health is unknown. Vulnerability to genital infections may predispose CHH patients to prolonged human papillomavirus (HPV) infections potentially leading to cervical, vaginal and vulvar cancer.
We carried out gynecologic evaluation, pelvic ultrasound and laboratory assessment in 19 women with genetically confirmed CHH. All patients were clinically examined and retrospective data were collected from hospital records.
The women ranged in age from 19.2 to 70.8 years (median 40.8 years) and in height from 103 to 150 cm (median 123 cm). All women had undergone normal pubertal development as assessed by breast development according to Tanner scale and by age of menarche (mean 12.5 yrs., range 11-14 yrs). Despite significant short stature and potentially small pelvic diameters, a well-developed uterus with fairly normal size and shape was found by pelvic ultrasound in most of the patients. Ovarian follicle reserve, assessed by ultrasound was normal in relation to age in all premenopausal women it could be assessed (12 cases). Anti-Müllerian hormone was normal in relation to age in 17 women (89%). HPV was detected in 44% (8/18) and three women carried more than one HPV serotype; findings did not associate with immunological parameters. Three patients had a concurrent cell atypia in Pap smear.
Pubertal development, reproductive hormones and ovarian structure and function were usually normal in women with CHH suggesting fairly normal reproductive health. However, the immunodeficiency characteristic to CHH may predispose the patients to HPV infections. High prevalence of HPV infections detected in this series highlights the importance of careful gynecologic follow up of these patients.
软骨毛发发育不全（CHH）是一种罕见的干骺端软骨发育不良，患者表现为严重的生长障碍、可变免疫缺陷和恶性肿瘤风险增加。CHH 对妇科和生殖健康的影响尚不清楚。生殖器感染的易感性可能使 CHH 患者容易发生持续的人乳头瘤病毒（HPV）感染，从而导致宫颈癌、阴道癌和外阴癌。
我们对 19 名经基因证实的 CHH 女性进行了妇科评估、盆腔超声检查和实验室评估。所有患者均接受了临床检查，并从病历中收集了回顾性数据。
这些女性的年龄范围为 19.2 至 70.8 岁（中位数为 40.8 岁），身高范围为 103 至 150cm（中位数为 123cm）。所有女性均通过乳房发育根据 Tanner 量表和初潮年龄（平均 12.5 岁，范围 11-14 岁）评估，经历了正常的青春期发育。尽管身材矮小和骨盆直径可能较小，但大多数患者的盆腔超声检查均发现子宫发育良好，大小和形状相当正常。在所有可以评估的（12 例）绝经前妇女中，通过超声评估的卵巢卵泡储备与年龄相关正常。在 17 名女性（89%）中，抗苗勒管激素与年龄相关正常。在 18 名女性中，有 44%（8 名）检测到 HPV，有 3 名女性携带不止一种 HPV 血清型；这些发现与免疫参数无关。3 名患者的巴氏涂片同时存在细胞异型性。
CHH 患者的青春期发育、生殖激素以及卵巢结构和功能通常正常，提示生殖健康相当正常。然而，CHH 特征性的免疫缺陷可能使患者易感染 HPV。本系列中 HPV 感染的高检出率强调了对这些患者进行仔细妇科随访的重要性。
