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Pycnodysostosis: A Growth Hormone Responsive Skeletal Dysplasia

Hafsa Omer Sulaiman1, Nandu Kumar Sidramappa Thalange2

  • 1St. George's University of London, London, UK.

AACE Clinical Case Reports
|July 26, 2021
PubMed

Insights

Growth hormone (GH) therapy is effective for children with pycnodysostosis, a rare genetic disorder. Early treatment improves height and body proportions, offering significant benefits for affected children.

Area of Science:

  • Pediatric Endocrinology
  • Skeletal Dysplasias
  • Genetics

Background:

  • Pycnodysostosis is a rare genetic disorder characterized by skeletal abnormalities.
  • Growth hormone (GH) deficiency is a frequent comorbidity in pycnodysostosis, often linked to pituitary hypoplasia.

Observation:

  • A 22-month-old boy with pycnodysostosis presented with severe short stature ( -4.05 SDS).
  • Genetic analysis revealed a CTSK mutation, and MRI confirmed pituitary hypoplasia.

Findings:

  • The patient showed biochemical responsiveness to growth hormone (GH) therapy via an insulin-like growth factor generation test.
  • GH treatment resulted in significant height improvement (to -2.25 SDS) and an annualized growth velocity of 9.65 cm/y over 18 months.

Implications:

  • GH therapy is a crucial consideration for managing short stature in pycnodysostosis.
  • Initiating GH treatment at a younger age maximizes therapeutic benefits and improves long-term outcomes.
Abstract

Keywords:
GH, growth hormoneIGF-1, insulin-like growth factor-1IGFBP-3, insulin-like growth factor binding protein-3MRI, magnetic resonance imaginggrowth hormone deficiencypituitary hypoplasiapycnodysostosis

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