Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2015) 37 EP1324 | DOI: 10.1530/endoabs.37.EP1324

1Clinic for Endocrinology, Diabetes and Metabolic Disease, Clinical Center Serbia, Belgrade, Serbia; 2Faculty of Medicine, University of Belgrade, Belgrade, Serbia; 3Clinic for Hematology, Clinical Center Serbia, Belgrade, Serbia.


Introduction: Turner’s syndrome (TS) or Ullrich-Turner’s syndrome is genetic condition that affects only females. It is characterized by typical physical features and complete or part absence of one of the X chromosomes. Women with TS have been reported to be at increased risk of autoimmune diseases as compared with other women. Idiopathic thrombocytopenic purpura (ITP), isolated low platelet count (thrombocytopenia) with normal bone marrow and the absence of other causes of thrombocytopenia, is rarely described in patients with TS.

Case report: A 39-year-old female patient was admitted to our Clinic for endocrinological evaluation of primary amenorrhoea. Previously, in October 2012 and June 2013. She was admitted to clinic for haematology due to gingival bleeding, epistaxis and petehial bleeding. Haematological tests confirmed the diagnosis of Idiopathic thrombocytopenic purpura. Endocrinologist was consulted, because of amenorrhoea. Anamnestically, she was hospitalised at the age of 12 because of the short stature and oestrogen replacement therapy was initiated. She used sporadically, without further supervision. Karyotype was not determined. During hospitalisation in our Clinic, on physical examination, her external genitalia appeared as completely normal feminine structures with reduced pubic and axillary hair. Breasts were completely developed with missing nipples. Hormonal analysis showed menopausal values of gonadotropins and oestradiol (FSH=54.7 IU/l; LH=21.3 IU/l; E2=29.4 pmol/l; P<0.44 nmol/l; LTH=515.7 mlU/l; T=1.2 nmol/l; DHEAS=2.5 gmol/l; 17 OH-P=0.19 nmol/l, TSH=3 mlU/l; fT4=7.7 ng/l; TPO Ab=32.8 U/ml). Cytogenetic analysis revealed a 45, XO, karyotype, which confirmed the diagnosis of Turner’s syndrome. Estro-progesterone therapy was initiated. Regular menstrual bleeding appeared.

Conclusion: Very careful follow up of Turner’s syndrome is necessary due to high incidence of cardiovascular diseases, autoimmune diseases and short life expectancy.

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