Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases

2020

Preprint

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Background Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All these features can affect pregnancy and predispose to maternal and fetal complications. This study aimed to evaluate obstetric history and maternal and fetal outcomes in women with CHH. Methods Among 47 Finnish women with CHH, we identified 14 with pregnancy-related diagnoses in the National Hospital Discharge Registry and obtained detailed data on gynecologic and obstetric history with a questionnaire. Offspring birth length and weight were collected and compared with population-based normal values. Results There were altogether 42 pregnancies in 14 women (median height 124 cm, range 105–139). Twenty-six pregnancies (62%), including one twin pregnancy, led to a delivery. Miscarriages, induced abortions and ectopic pregnancies complicated 9, 5, and 2 pregnancies, respectively. Severe pregnancy-related complications were rare. All women with CHH delivered by cesarean section, mostly due to evident cephalo-pelvic disproportion, and in 25/26 cases at full-term. In the majority, the birth length (median 48 cm, range 45.5–50) and weight (3010 g, range 2100–3320) of the offspring in full-term singleton pregnancies was normal. Conclusions Despite CHH mothers’ significant short stature and other potential CHH-related effects on pregnancy outcome, most pregnancies lead to a term cesarean section delivery. Since fetal growth was generally unaffected, cephalo-pelvic disproportion was evident and elective cesarean section should be planned in term pregnancies.

Section: Discussionmentioning

confidence: 99%

Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study

2020

Preprint

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“…We have previously described two young CHH women with absent spontaneous pubertal development and reduced ovarian reserve [ 7 ]. However, in this study consisting of 19 women with CHH and severe disproportional growth failure, pubertal development and sexual maturation were normal as assessed by Tanner scale and age of menarche.…”

Section: Discussionmentioning

confidence: 99%

“…While major clinical manifestations of CHH are well-described, almost no data are available on its potential effect on gynecologic and reproductive health and vulnerability to genital infections and HPV-related cancers [ 2 , 5 – 7 ]. All these previous studies were based on questionnaires or case reports.…”

Section: Introductionmentioning

confidence: 99%

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

2018

Orphanet J Rare Dis

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BackgroundPatients 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.MethodsWe 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.ResultsThe 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.ConclusionsPubertal 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.

“…Despite the growing knowledge of disease mechanism, many clinical aspects of CHH remain uncharacterized. Only limited data are available regarding puberty, reproduction, and gynecologic health in patients with CHH [11][12][13]. The obstetrical literature in CHH is limited to case reports [14,15].…”

Section: Introductionmentioning

confidence: 99%

Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study

2020

Orphanet J Rare Dis

Self Cite

Background Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All these features can affect pregnancy and predispose to maternal and fetal complications. This study aimed to evaluate obstetric history and maternal and fetal outcomes in women with CHH. Methods Among 47 Finnish women with CHH, we identified 14 women with ICD codes related to pregnancies, childbirth and puerperium in the National Hospital Discharge Registry and obtained detailed data on gynecologic and obstetric history with a questionnaire. Offspring birth length and weight were collected and compared with population-based normal values. Results There were altogether 42 pregnancies in 14 women (median height 124 cm, range 105–139 cm; 4′1′′, range 3′5′′–4′7′’). Twenty-six pregnancies (62%), including one twin pregnancy, led to a delivery. Miscarriages, induced abortions and ectopic pregnancies complicated 9, 5, and 2 pregnancies, respectively. Severe pregnancy-related complications were rare. All women with CHH delivered by cesarean section, mostly due to evident cephalo-pelvic disproportion, and in 25/26 cases at full-term. In the majority, the birth length (median 48 cm, range 45.5–50 cm; 1′7′′, range 1′6′′–1′8′′) and weight (3010 g, range 2100–3320 g; 6.6 lb, range 4.6–7.3 lb) of the offspring in full-term singleton pregnancies was normal. Conclusions Despite CHH mothers’ significant short stature and other potential CHH-related effects on pregnancy outcome, most pregnancies lead to a term cesarean section delivery. Since fetal growth was generally unaffected, cephalo-pelvic disproportion was evident and planned cesarean section should be contemplated in term pregnancies.