Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.

ABSTRACT:

Background

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.

Methods

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.

Results

The women ranged in age from 19.2 to 70.8 years (median 40.8 years) and in height from 103 to 150 cm (m

SUBMITTER: Holopainen E 

PROVIDER: S-EPMC6240206 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature