ESPE Abstracts

Backgound: Cleidocranial dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities affecting various parts of the body, including the skull, clavicles, and long bones. The responsible gene is RUNX2 which plays a crucial role in the development of bone and cartilage. Sometimes growth hormone deficiency (GHD) can be associated with short stature in CCD.

Case: A female patient was brought to our Pediatric Endocrinologic Clinic for short stature at the age of 4.8 years. Her height and weight were 89.9cm (-4.42SDS) and 12.9 kg (-3.08SDS) and serum IGF1 and IGFBP3 were 59.02 ng/mL (-1.26SDS) and 1540 ng/mL (-1.5SDS), respectively. She was born at 37 weeks and 6 days gestation, weighing 2.64 kg. She was admitted to the NICU in the neonatal period due to cyanosis and fever, and was discharged without any specific problems. She had no problems in her developmental milestone. GHD was confirmed by growth hormone stimulation test (GHST) using l-dopa, glucagon, and arginine. GH treatment started. Physical examinations showed soft spot (persistent anterior fontanelle), relatively short limbs, and brachydactyly. She had heterozygous mutation of the gene RUNX2 (c.228_260dup p.Ala79&Ala89dup). During follow-up with growth hormone therapy over 3 years, her height and weight became 117.2cm (-2.52SDS) and 23 kg (-1.3SDS) at 8.5 years of age and serum IGF1 and IGFBP3 were 346.4ng/mL (1.18SDS) and 2035ng/mL (-1.75SDS), respectively.

Conclusion: Here we report a case of CCD with GHD in a female child. A detailed history taking and physical examination are necessary for the early diagnosis of CCD. Furthermore, patients with short stature with CCD need to be evaluated for the presence of GHD.