ECE2019 Poster Presentations Interdisciplinary Endocrinology 2 (37 abstracts)
1Clinic of Gastroenterology and Endocrinology, Goettingen, Germany; 2MVZ Endokrinologikum, Goettingen, Germany; 3Endokrinologikum, Hamburg, Germany; 4Endokrinologikum, Berlin, Germany; 5Endokrinologikum, Hannover, Germany; 6Endokrinologikum, Frankfurt, Germany.
Introduction: Turner syndrome (TS) is characterized by the complete or partial loss of one X chromosome and associated with a wide range of clinical manifestations. The clinical appearance depends on the specific karyotype, which may include different mosaic forms. Main features of almost all the karyotypes are short stature and delayed or absent puberty. Adult women in particular are at high risk of developing cardiac complications, metabolic syndrome, increased liver enzyme values, thyroid abnormalities, sensorineural hearing loss and inflammatory bowel disease. In addition, these women also display a tendency to suffer from low bone mineral density (BMD). The aim of the present study was the investigation of the current endocrine medical care in TS patients.
Method: Data were collected from medical records of 258 women with TS treated between 2001 and 2017 in five different specialist endocrinology centers in Germany. The study was approved by the ethic committee of the University Medical Center.
Results: Data analyses across endocrine locations could successfully be performed. Data evaluation of laboratory values was difficult due to different analyzing laboratories. At last follow-up, mean age was 29.8±11.6 years, mean height 152±7.7 cm and mean body mass index (BMI) 26.6±6.3 kg/m2. Most information was available on TSH (98%), liver values (93%) and the medication with hormone replacement therapy (90%). Less often parameters LDL (81%) and HbA1C (74%) were analyzed. Transition data on menarche (spontaneously or induced) and age at menarche were existent in 62% or 54%, respectively. The exact karyotype was documented in 50% of the medical records of the adult women. BMD was determined in 18% of the women, echocardiography in 42% and cardiac magnetic resonance imaging in 8.5%, the latter resulting in a diagnosis of cardiovascular disorder in 28% of those investigated.
Conclusion:: Before the publication of the TS guidelines, the endocrine care of TS women concentrated on thyroid and metabolic disease. From these retrospective data a structured work-up according to the TS guidelines is now implemented to improve the care of TS women in the participating centers.