Diversity of pubertal development in cartilage-hair hypoplasia – two illustrative cases

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Holopainen , E , Vakkilainen , S & Mäkitie , O 2018 , ' Diversity of pubertal development in cartilage-hair hypoplasia – two illustrative cases ' , Journal of Pediatric and Adolescent Gynecology , vol. 31 , no. 4 , pp. 422-425 . https://doi.org/10.1016/j.jpag.2018.02.128

Title: Diversity of pubertal development in cartilage-hair hypoplasia – two illustrative cases
Author: Holopainen, Elina; Vakkilainen, Svetlana; Mäkitie, Outi
Contributor: University of Helsinki, Department of Obstetrics and Gynecology
University of Helsinki, Clinicum
University of Helsinki, Clinicum
Date: 2018-08
Language: eng
Number of pages: 4
Belongs to series: Journal of Pediatric and Adolescent Gynecology
ISSN: 1083-3188
URI: http://hdl.handle.net/10138/299131
Abstract: Background: Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia, including disproportionate short stature, hypoplastic hair, immunodeficiency, and increased risk of malignancies. Absent pubertal growth spurt and absent pubic hair complicate monitoring of pubertal development in these patients. Cases: Two CHH patients with delayed puberty and excessive growth failure are described. One of the girls had hypogonadotropic hypogonadism whereas the other had hyponormogonadotropic hypogonadism with no spontaneous pubertal development and slow response to estrogen therapy, both requiring permanent replacement therapy. Summary and Conclusion: Careful follow-up of pubertal development in individuals with CHH and other growth-restricting bone diseases is needed. In delayed pubertal development timely hormone therapy is essential to ensure maximal growth and well developed secondary sex characteristics.
Subject: Cartilage-hair hypoplasia
puberty
hormone replacement
hypogonadism
pubertal induction
3123 Gynaecology and paediatrics
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