Background: Osteogenesis imperfecta (OI) is a genetic disorder mostly associated with mutation in one of the two genes encoding a chains of collagen type 1 (COL1A1 and COL1A2). Severity of the symptoms varies widely, caused by increase bone fragility and low bone mass. However, there is no direct relation reported in osteogenesis imperfecta and panhypopituitarism.
Clinical case: Nineteen months old boy was clinically diagnosed with osteogenesis imperfecta type III. He had a stormy neonatal period presented with multiple fractures since birth, complicated with neonatal hepatitis which has since resolved. He was referred for bisphosphonate treatment. Despite adequate caloric supplementation, he continues to have poor growth (height and weight below 3 S.D. for age). On examination he has large anterior fontanelle, pectus carinatum, blue sclera, high arch palate, generalized hypotonia, shortening of the limbs, micropenis and bilateral undescended testis. No cardiorespiratory abnormality, liver palpable 2 cm. Further investigations for failure to thrive revealed central hypothyroidism (TSH: 2.5 mIU/LfT4: 7.5 pmol/L), low cortisol level (127 nmol/L) and low IGF-1 (<25 ng/ml) ACTH: 8 pg/ml suggesting panhypopituitarism. LH: <0.1 IU/mL FSH:0.7 IU/mL Testosterone: 0.8. MRI brain and pituitary (contrasted) showed small pituitary gland and hypoplastic pituitary stalk. The child was started on L-thyroxine, physiological dose of hydrocortisone and planned for growth hormone therapy soon.
Conclusion: There is no doubt that this child has osteogenesis imperfecta with panhypopituitarism. Further genetic analysis is needed to find a novel mutation that links to both condition
27 - 29 Sep 2018
European Society for Paediatric Endocrinology