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001-es BibID:	BIBFORM125830
Első szerző:	Deli Tamás (szülész-nőgyógyász, endokrinológus szakorvos)
Cím:	Endocrine aspects of Turner syndrome / Deli Tamás, Vida Beáta, Török Olga, Jenei Katalin, Felszeghy Enikő, Orosz Mónika, Jakab Attila
Dátum:	2020
Megjegyzések:	Context The most common cause of genetic premature ovarian failure (POI) is Turner syndrome (TS), requiring life-long endocrinologic care. Objective Identifying and characterising the endocrine and non-endocrine symptoms and treatments of TS patients at our tertiari level university clinic. Methods We searched the outpatient and inpatient database of the Pediatric Endocrinology and Gynecologic Endocrinology Units of the University of Debrecen, Hungary, covering the period 01 January, 2009 to 01 June 2019. We gathered clinical data including symptoms, karyotypes, ant treatment. We also collected data about the concomittant diseases. Results We identified 74 TS patients. The average age was 21.6 years, the average BMI: 27.4?10.3 kg/m2. Complete TS karyotype (45 X0) was found in 44 patients (59%), whereas 30 patients (41%) had varied mosaic TS karyotypes (e.g. 45X0/46 XX, 45X0/47XXX, 45X0/46XY) and special variations resulting in TS (e.g. 46 x del(Xp), 46 X i(xq)). 39 patients were diagnosed with TS in childhood, 32 in adolescence and 3 as adults. Elements of TS phenotype were more common in complete TS karyotype patients as compared to mosaic or variant TS, the most common being hypoplastic and distant nipples (31% vs. 13%), short neck and boader nose (29% vs. 20%), hypertrychosis (18% vs. 3%). Reversely, in our population, mosaic TS was more commonly associated with clitoromegaly (10% vs. 4%). Growth hormone (GH) therapy was initiated between ages 8 to 12. GH therapy significantly increased the final hight of patients (149 cm vs. 142 cm, p<0.01). The majority of patients received female hormone replacement therapy (HRT), which was effective in preventing osteoporosis. Various concomittant diseases were found to be several times more common in the TS population than their prevalence in the general population, including structural cardiac anomaly (23%), urogenital malformations (38%), autoimmune thyreoiditis (50%), hypothyroidism (24%), coeliakia (20%), mental disorders (52%) and hearing or visual disorders (10%). Conclusions Almost half of the TS population we examined did not have classical 45 X0 karyotype, and these patients presented with less typical TS phenotypes. The majority of patients are diagnosed before adulthood, and early GH and HRT therapies improve the long-term outcome. Considering the frequency of cardiac, urogenital, thyroid, sensory and gastrointestinal diseases in them, all TS patients should be screened for this disorders.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idézhető absztrakt folyóiratcikk Turner syndrome endocrine characteristics
Megjelenés:	Gynecological and Reproductive Endocrinology and Metabolism. - Supplement 1 (2020), p. 109. -
További szerzők:	Vida Beáta (1994-) (szülészet-nőgyógyászat) Török Olga (1956-) (szülész-nőgyógyász, humángenetikus) Jenei Katalin Felszeghy Enikő Noémi (1970-) (gyermekgyógyász) Orosz Mónika (1991-) (Szülész-nőgyógyász) Jakab Attila (1964-) (szülész-nőgyógyász, endokrinológus)
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