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Updated: Feb 14, 2026

Development and Evaluation of a Rat Model of Full-Thickness Cartilage Defects
Published on: May 19, 2023
Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases
Elina Holopainen1, Svetlana Vakkilainen2, Outi Mäkitie3
1Department of Reproductive Medicine, Women's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
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.
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