ESPE Abstracts

Background: Turner syndrome (TS) involves a partial or complete loss of an X chromosome. TS patients have an increased susceptibility to various disorders.

Objective and hypotheses: To describe the clinical presentation, genotype and follow-up of TS patients controlled in the Pediatric endocrinology department of our hospital.

Method: Retrospective study of patients diagnosed with TS at the ‘Navarra Hospital’ between 1980–2014. Review of medical records.

Results: 33 patients, actual mean age: 22.2 years (6–47), age at diagnosis: 7±3.8 years. The main reason for consultation was short stature (78%). 90% received GH treatment, at a mean age of 8.7 years. Genetic analysis: monosomy XO (n=9), isochromosomes (n=10), mosaic XX/XO (n=5), complex mosaicism 45X, 46XX, 47XXX (n=5), mosaic ring X (n=2), mosaic XX/XY (n=1) and complex reorganizations (n=1). Associated pathology: 30% heart disease (mainly bicuspid aortic valve, one case death by dissecting aneurysm); 27% recurrent otitis, 18% hearing loss, 24% kidney abnormalities, 35% thyroid disorder, 15% dyslipemia, 15% hypertransaminemia, 12% psychological disorders, 6% altered carbohydrate metabolism, 6% obesity and 3% HBP. Currently, 21 patients are over 18 years old: mean final stature: 149.4±5.1 cm, spontaneous puberty 43% (5 requested preconception advice, three IVF was done, resulting in 5 pregnancies, one patient had two spontaneous pregnancies). As for the medical follow-up: 75% are checked in gynecology, 60% in endocrinology, 20% otolaryngology, 10% mental health, 5% cardiology. 89% have done blood test in the past 2 years, 36% echocardiography in the past 5 years and 26% bone densitometry in the past 5 years.

Conclusion: The chief complaint that led to the diagnosis of TS was short stature. Genetic analysis reveals a variety of karyotypes, highlighting the presence of monosomy XO and isochromosomes. Is imperative an adequate multidisciplinary follow-up in adults units, to ensure proper screening and management of major complications.