SUN-440 Osteogenesis Imperfecta and Hypopituitarism: A Life-Long Consequences Case Report

Background: Osteogenesis imperfecta is a genetic disorder of the synthesis of collagen type 1 mainly due to mutations on the COL1A1 and COL1A2 genes. Symptoms involve predominantly bone fractures, blue sclera, teeth abnormalities and hearing loss. Hypopituitarism and osteogenesis imperfecta have not been yet genetically related. Case Report: Male patient born in January of 1988, came to pediatric consult 4 days after birth due to abnormalities in lower limb. X-ray showed fractures in left femur and non-ossified head of the same bone. Continuous investigation demonstrated numerous intra-uterus breakages, low bone mineral density and blue sclera, receiving the diagnosis of osteogenesis imperfecta type 1. Throughout childhood, the patient’s Z score growing rates were always below -2.5, which was thought to be caused by the collagen mutation. At the age of seven, while playing with his same age cousin, parents realized significant height difference, seeking an endocrinologist consult. MRI of sella turcica performed in November of 1994 revealed an empty sela. Subsequent clonidine GH stimulation test in January of 1995 indicated no value greater than 2,1 ng/mL (Normal: ≥ 5 ng/mL) leading to hypopituitarism suspicion. July of 1997 TSH levels of 0,145 mU/L (0,3-4,0 mU/L) and T4 of 4,9 (5,4-13,3 mg/dL) indicated thyroid dysfunction. At the age of 19, patient’s gonadal and pubic hair development was at stage 1 of the Tanner Scale, weighted 45 kg and measured 147 cm, total testosterone level was lower than 20 ng/dL (normal pre-pubertal: 20-270 ng/dL), FSH of 0,31 mUI/mL (normal pre-pubertal: < 5 mUI/mL), LH of 0,17 mUI/mL (normal pre-pubertal: < 4 mUI/mL), and 08:00 AM cortisol of 1,21 mcg/dL (normal: 5-25 mcg/dL). Management of the condition included testosterone cypionate 125mg every 28 days to induce puberty and growth support, somatropin 6UI/d to assist bone maturation, levothyroxine 100mcg/d to compensate the thyroid dysfunction, and prednisone 5mg/d for corticotropin insufficiency. Semen analysis performed in 2010 confirmed gonadal sterility. In the last consult in October of 2018, patient was 30 years old, 160 cm tall, weighting 58 kg, and requiring prednisone 5mg/d, testosterone undecanoate 250mg every 3 months, somatropin 1,33 UI/d, levothyroxine 125 mcg/d, and Calcium carbonate 1250mg + Vitamin D 400 UI twice a day for symptomatic control. Patient affirms that without those medications and dosages he becomes symptomatic and with poor daily life performance. Conclusion: The case consists in two uncommon and unrelated disorders in one individual, which implications started in childhood and remain until present time. Therefore, continuous investigation is required and genetic association is necessary to corroborate mutation.