Cartilage-hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia significantly affecting adult height and quality of life. Immunodeficiency and increased risk for malignancies contribute to significant morbidity. Little is known about gynecologic health in CHH. We performed a questionnaire study of 26 women (mean age 42.3 years) with genetically confirmed CHH, inquiring about pubertal development, menstrual cycle, use of contraception, pregnancies, gynecologic infections, and gynecologic cancers. Mean age at menarche and menopause was 12.7 and 46.1 years, respectively. Mean length of menstrual cycle was 27 days. Contraception was used by 76%, most commonly condom (60%), and combined contraception (60%). Despite significant short stature (mean height 121 cm) and potentially small pelvic diameters, 10 CHH women (38%) had been pregnant. Six of these women reported miscarriages and three had, induced pregnancy terminations. Eight women had in total, 19 deliveries. Abnormal Pap smear was reported in five patients and cervical cancer once. Our findings of normal timing of puberty and menopause suggest a fairly normal length of the fertility period in women with CHH. However, many patients expressed concerns regarding the safety of pregnancy and lack of prepregnancy counseling. Immunodeficiency may predispose CHH women to prolonged HPV infections. This study highlights the importance of careful gynecologic follow-up for these patients.
Keywords: RMRP; CHH; contraception; fertility; pregnancy; puberty; skeletal dysplasia.
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