Year: 2009
Type: dissertation
Study design: Observational Study
Abstract: Turner syndrome (TS) is a chromosomal disorder with a prevalence of\napproximately 1/2 500 live female births. There is complete or partial absence of\none of the two sex chromosomes, resulting in a genetic constellation of 45,X\nmonosomy or 45,X/46,XX mosaic, respectively. In the present studies, using\nmore accurate analysis with Fluorescence In Situ Hybridization (FISH), we\ninvestigated whether the international classification of the “genotype-phenotype\ncorrelation” should be different. TS women were compared with age-matched\ncontrols from the WHO MONICA study, carried out in Gothenburg, into\ncardiovascular risk factors and bone data. Stigmata were counted and balance\nand hearing were tested. Mosaics had fewer stigmata, no aortic dissection, were\ndiagnosed 8 years later, had better balance and fine motor function and fewer\ncardiovascular risk factors compared with 45,X monosomy. The 45,X/46,XX\nmosaics were, thus, more similar to controls.\nMosaicism mitigated stigmata and the cardiovascular and fracture risk factor\nprofile in TS.\nHypothyroidism and elevated liver enzymes are common in TS but no\nprospective studies have been performed. Thyroid function and liver enzymes\nwere studied in TS patients during five years. The prevalence of hypothyroidism\nwas 23% with an annual incidence of 3.2%, and the corresponding figures for\nelevated liver enzymes were 36% and 3.4%, respectively. Hypothyroidism was\nnot associated with karyotype, family history or other metabolic factors but\nelevated thyroid peroxidase (TPO) antibodies were found in almost half of the\nTS cases with hypothyroidism. The most prevalently increased liver enzyme\nwas gamma glutamyl transferase (GT) which was correlated with serum\ncholesterol, independently of obesity, waist/hip ratio and glucose level, but not\nwith serum estradiol.\nEvery third TS woman developed hypothyroidism at five years and those with\nelevated TPO were at highest risk. Annual thyroid function control is\nmandatory. More than every second TS woman had elevated liver enzymes at\nfive years. The elevated liver enzymes were benign. Estrogen replacement can\nbe continued in TS.
Author: Mohamed Mostafa El-Mansoury
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W1517165619