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

J Pediatr Adolesc Gynecol. 2018 Aug;31(4):422-425. doi: 10.1016/j.jpag.2018.02.128. Epub 2018 Feb 17.


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.

Keywords: Cartilage-hair hypoplasia; Hormone replacement; Hypogonadism; Pubertal induction; Puberty.

MeSH terms

  • Adolescent
  • Child
  • Female
  • Hair / abnormalities*
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / drug therapy
  • Hormone Replacement Therapy / methods*
  • Humans
  • Hypogonadism / drug therapy
  • Hypogonadism / etiology*
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / drug therapy
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / drug therapy
  • Primary Immunodeficiency Diseases
  • Puberty, Delayed / drug therapy
  • Puberty, Delayed / etiology*
  • Retrospective Studies
  • Young Adult

Supplementary concepts

  • Cartilage-hair hypoplasia