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.

Effect of Oxandrolone on Glucose Metabolism in Growth Hormone-Treated Girls with Turner Syndrome.

Menke LA, Sas TC, Stijnen T, Zandwijken GR, de Muinck Keizer-Schrama SM, Otten BJ, Wit JM

Dutch Growth Research Foundation, Rotterdam, The Netherlands.

Background: The weak androgen oxandrolone (Ox) may increase height but may also affect glucose metabolism in girls with Turner syndrome (TS). Methods: In a randomized, placebo-controlled, double-blind study, we assessed the effect of Ox at a dosage of either 0.06 or 0.03 mg/kg/day on glucose metabolism in 133 growth hormone (GH)-treated girls with TS. Patients were treated with GH (1.33 mg/m(2)/day) from baseline, combined with placebo (Pl) or Ox from the age of 8, and estrogens from the age of 12. Oral glucose tolerance tests (OGTT) were performed, and HbA1c levels were measured before, during, and after discontinuing Ox/Pl therapy. Results: Insulin sensitivity, assessed by the whole-body insulin sensitivity index (WBISI) decreased during GH+Ox/Pl (p = 0.003) without significant differences between the dosage groups. Values returned to pre-treatment levels after discontinuing GH+Ox/Pl. On GH+Ox, fasting glucose was less frequently impaired (Ox 0.03, p = 0.001; Ox 0.06, p = 0.02) and HbA1c levels decreased more (p = 0.03 and p = 0.001, respectively) than on GH+Pl. Conclusions: We conclude that in GH-treated girls with TS, Ox at a dosage of 0.03 or 0.06 mg/kg/day does not significantly affect insulin sensitivity. Insulin sensitivity decreases during GH therapy, to return to a pre-treatment level after discontinuing therapy.

Published 3 September 2010 in Horm Res Paediatr.
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Articles on Turner Syndrome published 2 September 2010:

Psychogenetics of Turner syndrome: an investigation of 28 subjects and respective controls using the Bender test and Piagetian scales.   Genet Mol Res, 9(3): 1701-25.

Piagetian scales and the Bender visual motor gestalt test (BT) were applied to 28 subjects with universal 45,X Turner syndrome (TS), and their respective controls, in order to investigate their cognitive performance. Dermatoglyphics were also analyzed to obtain clues concerning embryological changes that may have appeared during development of the nervous system and could be associated with cognitive performance of TS patients. Dermatoglyphic pattern distribution was similar to that reported in ... [Abstract] [Full-text]

Articles on Turner Syndrome published 30 August 2010:

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.   Nat Genet, 42(9): 790-3.

We demonstrate the successful application of exome sequencing to discover a gene for an autosomal dominant disorder, Kabuki syndrome (OMIM%147920). We subjected the exomes of ten unrelated probands to massively parallel sequencing. After filtering against existing SNP databases, there was no compelling candidate gene containing previously unknown variants in all affected individuals. Less stringent filtering criteria allowed for the presence of modest genetic heterogeneity or missing data but ... [Abstract] [Full-text]

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.   Am J Med Genet A, 152(9): 2230-5.

Mutations or deletions in the SHOX gene cause Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) when present in heterozygous or homozygous form, respectively. A new class of enhancer deletions was identified 30-250 kb downstream of SHOX. We identified a female patient with marked short stature, mosaic for monosomy X in 31% of her lymphocytes, and findings consistent with LWD. Additional molecular studies demonstrated segregation of 17 polymorphic markers flanking and ... [Abstract] [Full-text]

A cohort study of post-weaning multisystemic wasting syndrome and PCV2 in 178 pigs from birth to 14 weeks on a single farm in England.   Prev Vet Med.

Our hypothesis was that pigs that develop post-weaning multisystemic wasting syndrome (PMWS) are detectable from an early age with signs of weight loss and other clinical and serological abnormalities. Therefore, the objective of this study was to investigate the temporally varying and fixed events linked with the clinical incidence of PMWS by comparing affected and unaffected pigs in a cohort of 178 male piglets. Piglets were enrolled at birth and examined each week. Samples of blood were ... [Abstract] [Full-text]

Articles on Turner Syndrome published 26 August 2010:

Potential biomarkers for Turner in maternal plasma: Possibility for non invasive prenatal diagnosis.   J Proteome Res.

Turner syndrome (TS) is the commonest sex chromosome abnormality in females, caused by the complete or partial absence of one X chromosome. In order to identify biomarkers for TS we compared the protein composition of maternal plasma samples from pregnant women with normal and TS foetuses, using a proteomic approach consisting of 2D-E separation and MS analysis for the identification of the differentially expressed proteins. Samples were routinely obtained in the 2nd trimester of pregnancy, ... [Abstract] [Full-text]

Articles on Turner Syndrome published 24 August 2010:

Sudden appearance of new upper extremity motor function while performing neurophysiologic intraoperative monitoring during tethered cord release: a case report.   J Pediatr Orthop, 30(6): 624-8.

: Tethered cord syndrome occurs when the distal spinal cord or filum adheres to adjacent structures resulting in progressive sensorimotor deficits in the lower extremities, fecal and/or urinary incontinence, and musculoskeletal deformities. Tethering of the distal cord may be idiopathic, may be associated with an intraspinal abnormality such as a lipoma, but most commonly the distal spinal cord remnant is adherent to the area of the original dysraphism repair in patients with myelodysplasia. ... [Abstract] [Full-text]

Prospective Study Confirms Oxandrolone-Associated Improvement in Height in Growth Hormone-Treated Adolescent Girls with Turner Syndrome.   Horm Res Paediatr.

Background/Aims: Untreated girls with Turner syndrome (TS) have growth failure, and adult height is, on average, 20 cm less than predicted height. Treatment with growth hormone (GH) is now standard of care. The objective of this study was to investigate the benefit of adding oxandrolone (Ox) to GH in a long-term, randomized, placebo (Pl)-controlled prospective trial to near adult height in TS. Methods: Prospective, randomized, Pl-controlled study: 76 girls with TS (ages 10-14.9 years) were ... [Abstract] [Full-text]

Articles on Turner Syndrome published 23 August 2010:

Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy.   Eur J Obstet Gynecol Reprod Biol, 152(1): 18-24.

Following the death in France by acute aortic dissection of two women with Turner syndrome who were pregnant following oocyte donation, the Director of the French Biomedicine Agency (Agence de la biomédecine) sent a letter to the President of the French College of Obstetricians and Gynaecologists (FCOG). He requested the College's expertise in reviewing point-by-point the cases and risk factors and in determining whether there are grounds to propose additional measures complementary to the ... [Abstract] [Full-text]

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