Endocrine Abstracts

Background: This case report reflects complex management of patient with two chromosomal pathologies and congenital heart disease.

Case presentation: A phenotypic girl was born with signs of trisomy 21 and hypoxemia from non-consanguineous parents. Cardiac evaluation confirmed Ebstein anomaly, ventricular and atrial septal defects, pulmonary artery stenosis and cardiovascular insufficiency. Karyotype revealed 47 XY +21. In pelvic MRI small uterus was seen, but without differentiated ovaries. At the age of 7 streak gonad extirpation was performed, and tissue samples were without signs of malignancy. Patient has also undergone surgery for pulmonary valve dilation at the age of 5, however maintains significant right ventricular outflow tract obstruction. Because of double aortic arch partial compression of trachea and esophagus is also observed. At the moment patient has cardiovascular insufficiency, chronic hypoxemia with associated polycythemia (Hb >18 g/dl, hematocrit >50%) and receives daily aspirin and carvedilol. At the age of 12, osteodensitometry (DXA) showed decreased bone mineral density, with Z-score -2.3 SD. Patient was recommended to use vitamin D3 5000 IU and calcium 250 mg daily. Currently (15 years of age) patient has no signs of puberty, obesity (BMI 30.9 kg/m²), height corresponds 62. percentile (trisomy 21 charts) and bone age is delayed by 2.6 years. DXA scan reveals osteopenia with Z-scores -2.3 SD (lumbar spine), -2.9 SD (left femur), -2.4 SD (right femur), spinal x-ray shows compression fractures in 12^th thoracal and 1^st lumbar vertebrae. Despite repeated consultations about initiation of low-dose estrogen replacement treatment that has been recommended by paediatric endocrinologist and gynecologist, it has been postponed by cardiologist because of high thrombosis risk.

Conclusion: Management of patient with multiple serious comorbidities demands multidisciplinary team and risk-benefit analysis for therapeutical decisions. Treatment with bisphosphonates should be considered in patients with hypergonadotropic hypogonadism and osteopenia with relative contraindications for hormone replacement treatment.