SUN-518 Sanjad Sakati Syndrome - A Rare Cause Of Congenital Hypoparathyroidism And Severe Short Stature - A Case Report

BACKGROUND: Sanjad-Sakati Syndrome (SSS) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism, dysmorphic facial features, short stature, and developmental delays (1). SSS has been reported primarily in individuals of Middle Eastern ancestry. Children are born with features of intrauterine growth restriction and demonstrate poor postnatal growth. Acquired hypothyroidism has been reported. There are no previous reports of osteopenia in older children with SSS. CLINICAL CASE: A 17-year-old male Syrian refugee with a history of clinical diagnosis of SSS presented to our endocrine clinic. He is the product of consanguineous marriage born at 40 weeks gestation and weighing 2 kg at birth. He was admitted at Syrian hospital at age 2 weeks for seizures and found to have hypocalcemia and undetectable parathyroid hormone level. He began calcium and vitamin D replacement. He had 4-5 seizures in the first few years of life. Patient began Alfacalcidol around age 5 and his symptoms improved. Upon referral to our institution at age 17, he had classic features of SSS and next generation sequencing confirmed TBCE mutation. Weight was 13.6 kg (-24.8 SD weight for age). Height was 104 cm (-8.86 SD height for age). Bone age was 17 years. He was Tanner stage 3 for pubic hair with normal adult phallus. Testicular volume was 6-8 cc bilaterally. LH was 6.8 miIU/mL, FSH was 19.3 miIU/mL, and total testosterone was 726 ng/dL. Ultrasounds showed bilateral nephrocalcinosis and testicular microlithiasis. He had significant cervical and thoracolumbar scoliosis due to muscle atrophy leading to contractures. MRI revealed basal ganglia calcifications. He had a steady neurologic decline including poor balance and strength, pain with ambulation, and now requires wheelchair assistance. He had no history of fractures, however, due to his symptoms DXA was obtained. Left Distal Femur BMD Z-scores were R1 -4.5, R2 -6.8, R3 -4.7. Right Distal Femur BMD Z-scores were R1 -4.4, R2 -6.4, R3 -4.7. There was no solution for adjusting for height for distal femur results. MRI spine did show increased marrow fat. CONCLUSIONS: We conclude that adolescents with SSS may demonstrate osteopenia, however severe scoliosis and short stature make positioning for DXA and interpretation of DXA challenging. Osteopenia may be due to inherent risk factors of osteopenia such as poor mobility, poor nutrition from feeding issues, or nutritional deficiencies. Hypogonadism could also contribute to osteopenia; however, in our patient, normal testosterone levels were observed at presentation even in the setting of small testicular size and testicular microlithiasis. REFERENCES: 1. Arabi, W.A., A.A. Basheer, M.A. Abdullah. Sanjad-Sakati Syndrome in Sudanese children. Sudan J Paediatr, 2011. 11(1): p.42-7.