Endocrine Abstracts

JOINT920

Introduction: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is characterized by severe growth retardation, microcephaly, low to normal intelligence, distinctive facial features, and severe short stature. This study examines the clinical features of four cases with heterozygous mutations in the pericentrin (PCNT) gene.

Cases: Case 1: A 7-year-5-month-old male, born at 39 weeks with a birth weight of 2750 grams (-1.68 SD), presented with short stature. His height was 114.4 cm (-1.88 SD), weight 18.3 kg (-1.84 SD), head circumference 48.5 cm (-2.58 SD), and he was prepubertal with a growth velocity of 5.2 cm/year. Case 2 An 8-year-old male, born at 38 weeks with a birth weight of 2000 grams (-3.67 SD), presented with short stature. His height was 113.3 cm (-2.65 SD), weight 17 kg (-2.68 SD), head circumference 50.5 cm (-1.45 SD), and he was prepubertal with a growth velocity of 4.5 cm/year. Case 3 A 6-year-11-month-old female, born at 33 weeks + 5 days with a birth weight of 2080 grams (0.15 SD), was under follow-up for thyroid agenesis. Her height was 106.3 cm (-2.93 SD), weight 16 kg (-2.39 SD), head circumference 49.5 cm (-1.34 SD), and she was prepubertal with a growth velocity of 4.8 cm/year. Genetic analysis revealed heterozygous mutations in PCNT and MEN1 genes. Case 4 A 10-year-9-month-old female, born at 36 weeks with a birth weight of 1500 grams (-3.32 SD), was under follow-up for celiac disease. Her height was 126.4 cm (-2.56 SD), weight 26.5 kg (-1.69 SD), head circumference 48.6 cm (-3.12 SD), and she was at Tanner stage 2. Her growth velocity was 5.3 cm/year. After three years of growth hormone therapy (0.045 mg/kg/day), her final height was 145 cm (-2.4 SD). All cases had heterozygous PCNT mutations, normal liver, kidney, and thyroid function tests, and negative celiac antibodies.

Conclusion: Heterozygous mutations in the PCNT gene, compared to homozygous or compound heterozygous cases, are associated with milder short stature but can still lead to low birth weight and, in some cases, microcephaly. Genetic analysis is critical in patients with short stature, SGA birth, microcephaly, or a family history of pathological short stature. According to current literature, pediatric cases with heterozygous PCNT mutations have not been previously reported. Comprehensive evaluations of the efficacy and safety of growth hormone therapy will play a key role in improving future treatment approaches.

Keywords: PCNT heterozygous, Short stature, Genetic short stature