Turner Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Turner Syndrome, including details on symptoms, causes, chromosomes, prognosis.

X-CHROMOSOME GENE DOSAGE AND THE RISK OF DIABETES IN TURNER SYNDROME.

Bakalov VK, Cheng C, Zhou J, Bondy CA

Program in Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

Background: Turner syndrome (TS) is caused by the absence or fragmentation of the 2(nd) sex chromosome. An increased risk of diabetes mellitus (DM) has consistently been noted, but the specific phenotype and genetic etiology of this trait are unknown. Methods: In a prospective study, we examined the prevalence of DM in adult participants in an intramural NIH TS study. Results were analyzed with respect to karyotype, age, BMI and autoimmune indices. Insulin sensitivity and secretion were compared in age- and BMI-matched euglycemic women with TS and healthy female controls. We compared gene expression profiles in lymphocytes from differentially affected TS groups. Results: Type 2 DM was present in 56/224 (25%) of women with TS; type 1 DM was found in only one (<0.5%). DM was more prevalent among women with an isoXq chromosome compared to X monosomy (40.0% vs. 17.3%, p=0.004). Euglycemic women with TS (n=72; age 33+/-12; BMI 23+/-3) had significantly higher glycemic and lower insulin responses to OGTT, with insulin sensitivity similar to controls. Gene expression profiles comparing 46,X,i(X)q vs. 45,X groups showed a significant increase in Xq transcripts and in potentially diabetogenic autosomal transcripts in the isoXq group. Conclusion: Type-2 DM associated with deficient insulin release is significantly increased among women with monosomy for the X chromosome, but is even more greatly increased among women with monosomy for Xp coupled with trisomy for Xq. These data suggest that haploinsufficiency for unknown Xp genes increases risk for DM and that excess dosage of Xq genes compounds the risk.

Published 1 July 2009 in J Clin Endocrinol Metab.
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Articles on Turner Syndrome published 23 June 2009:

Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences.   Horm Res, 71(6): 343-9.

AIMS: To investigate the metabolic consequences of long-term GH treatment in young women with Turner syndrome (TS), several years after GH discontinuation. METHODS: Follow-up study of a randomized GH dose-response trial, with 3 GH dosages (1.3, 2.0, and 2.7 mg/m(2)/day). Thirty-nine TS patients (20.0 +/- 2.1 years) participated 4.8 +/- 1.9 years after GH discontinuation. Mean GH treatment duration was 8.7 +/- 2.0 years. Fasting glucose, insulin, and serum lipids were measured. RESULTS: Several ... [Abstract] [Full-text]

Long-term follow-up of GH-treated girls with Turner syndrome: BMI, blood pressure, body proportions.   Horm Res, 71(6): 336-42.

AIMS: To investigate whether long-term growth hormone (GH) treatment influenced blood pressure (BP), body proportions and BMI in young Turner syndrome (TS) women several years after GH discontinuation. METHODS: A follow-up study of a randomized GH dose-response trial with 3 GH dosages (1.3, 2.0, and 2.7 mg/m(2)/day). 39 TS patients (20.0 +/- 2.1 years) participated 4.8 (1.9) years after GH discontinuation. Mean GH duration was 8.7 (2.0) years. Measurements: BP, BMI and body proportions. ... [Abstract] [Full-text]

Triple-marker prenatal screening program for chromosomal defects.   Obstet Gynecol, 114(1): 50-8.

OBJECTIVE:: To examine screening performance of California's triple-marker screening program, using data from a statewide registry for chromosomal defects. METHODS:: This study included 752,686 women who received a screening risk and had an expected date of delivery between July 2005 and the end of June 2007. Follow-up diagnostic services for screen-positive women were performed at state-approved centers. Data on diagnostic outcomes from these visits were entered into the California Chromosomal ... [Abstract] [Full-text]

Articles on Turner Syndrome published 22 June 2009:

Primary carcinoid tumour of nasal septum.   J Laryngol Otol, 123(7): 789-92.

OBJECTIVE: We present the first reported case of primary carcinoid tumour of the nasal septum. METHOD: Case report of our experience of a carcinoid tumour of the nasal septum. We discuss our clinical, radiological and pathological findings. RESULT: An 83-year-old woman presented with a history of left-sided nasal blockage. Clinical examination showed a unilateral, left-sided nasal polyp. Further imaging and histological analysis confirmed this to be a carcinoid tumour. Carcinoid tumours outside ... [Abstract] [Full-text]

Unusual evolution of a non-hacek Gram-negative endocarditis in a patient with Turner syndrome.   Age Ageing, 38(4): 485-6.

Non-HACEK Gram-negative endocarditis is a rare but severe illness, and the diagnosis can be difficult to establish. Here, we report the case of a 72-year-old woman with Turner syndrome suffering from non-typhoid Salmonella endocarditis of the triscupid valve, who benefited from prompt antibiotic treatment allowing a quick and complete recovery. [Abstract] [Full-text]

Hormonal replacement therapy in women with Turner's syndrome in Poland: Analysis of 176 cases.   Gynecol Endocrinol.

Aim. Turner syndrome (TS) is one of the forms of gonadal malfunction. The study aims at the analysis of hypophysis-gonad axis (HGA) of women with TS who use and do not use hormonal replacement therapy (HRT). Method. One hundred and seventy-six Poles with TS were investigated in the years 1995-2004. The information about the application of HRT was given during the interview. The HGA was examined by the estimation of gonadotropin (FSH, LH) and 17beta-estradiol (E(2)) levels. Results. HRT was ... [Abstract] [Full-text]

Articles on Turner Syndrome published 17 June 2009:

Estrogen and hearing from a clinical point of view; characteristics of auditory function in women with Turner syndrome.   Hear Res, 252(1): 3-8.

Turner syndrome is a chromosomal aberration affecting 1:2000 newborn girls, in which all or part of one X chromosome is absent. This leads to ovarial dysgenesis and little or no endogenous estrogen production. These women have, among many other syndromal features, a high occurrence of ear and hearing problems, and neurocognitive dysfunctions, including reduced visual-spatial abilities; it is assumed that estrogen deficiency is at least partially responsible for these problems. In this, study 30 ... [Abstract] [Full-text]

Articles on Turner Syndrome published 15 June 2009:

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.   Genes Chromosomes Cancer, 48(7): 533-8.

Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical diagnosis of SCS. Because of the potential importance of this finding, we organized a multicenter study enrolling people with TWIST1 mutation confirmed SCS to determine if an increased risk of cancer is present. This study did not identify any cases of ... [Abstract] [Full-text]

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