Disease relevance of TNR1

• Turner syndrome and inflammatory bowel disease [1].
• Overall, referral and treatment decisions by physicians resulted in recommendations for GH therapy in 78% of children with GH deficiency, Turner syndrome, or renal failure; of those recommended for treatment, 28% were denied coverage by insurers [2].
• We report the ninth documentated coincidence of anorexia nervosa and XO gonadel dysgenesis (Turner syndrome) and the second confirmed coincidence of anorexia nervosa and XO/XX (mosaic) gonadal dysgenesis [3].
• Lateralized neurologic deficits and psychopathology in a Turner syndrome patient [4].
• There were no significant differences in the occurrence of Down syndrome (relative risk [RR]=1.07; 95% CI 0.16-5.47) or Turner syndrome (RR=1.32; 95% CI 0.17-7.96) among the children of cancer survivors, compared with the children of their siblings [5].

Psychiatry related information on TNR1

• Mental retardation and a constellation of congenital malformations not usually associated with Turner syndrome are seen in some females with a mosaic 45,X/46,X,r(X) karyotype [6].
• Data on self-concept and behavior were gathered from 31 girls with Turner syndrome (TS) followed longitudinally between the ages of 12 and 16 and from 89 normal control girls recruited from public schools and assessed cross-sectionally [7].
• CONCLUSIONS: Puberty should be induced at a physiologically appropriate age in patients with Turner syndrome to optimize self-esteem, social adjustment, and initiation of the patient's sex life [8].
• Turner syndrome women were relatively heavier and had a lower degree of leisure time physical activity than controls (P < 0.001) [9].
• Juvenile onset narcolepsy in an individual with Turner syndrome. A case report [10].

High impact information on TNR1

• Complete or partial monosomy with respect to the X chromosome is the genetic basis of Turner syndrome in human females [11].
• Individuals with Turner syndrome have a spectrum of anatomical, physiological and behavioral phenotypes with expressivity dependent on the extent of monosomy and the parental origin of the single X [11].
• Parent-of-origin influences on social cognition in Turner syndrome might be due to the presence of imprinted genes on the X. Imprinting of X-linked genes has also been implicated in the male prevalence of autistic spectrum disorders, in male sexual orientation and in the developmental delay of XO mouse embryos [11].
• Our data suggest an involvement of SHOX in idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients [12].
• Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome [12].

Chemical compound and disease context of TNR1

• CONCLUSIONS: The prevalence of osteoporosis and bone fractures is not increased significantly in women with Turner syndrome who are treated with standard estrogen therapy [13].
• Most cardiovascular risk factors (glucose and lipid levels, fibrinogen, smoking habits) were not increased, but hypertension was more common in Turner syndrome women [9].
• Turner syndrome (TS) represents a unique, sex hormone-deficient model in which to study the biological effects of androgen treatment (replacement) on cognition in females because TS girls have gonadal dysgenesis and absent ovarian androgen and estrogen production [14].
• Clitoral hypertrophy was observed in only one of the five girls with Turner syndrome and regressed when testosterone therapy was discontinued [15].
• To further assess quantitative pituitary gonadotropin release in patients with primary hypogonadism, a 3-hour constant infusion of the synthetic gonadotropin-releasing hormone, LH-RH, was administered to 12 functionally agonadal girls (11 with Turner syndrome and 1 who had been overiectomized), aged 9.5 to 19.42 years [16].

Biological context of TNR1

• Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome [17].
• An understanding of its biological functions has begun to emerge from DNA studies of individuals with partial Y chromosomes, coupled with molecular characterization of genes implicated in gonadal sex reversal, Turner syndrome, graft rejection and spermatogenic failure [18].
• One mother had mosaic Turner syndrome; two additional mothers and one father had balanced chromosome translocations [19].
• Indeed, there are several recent reports of successful pregnancies involving 47,XXY fathers, and suggestions that cryopreservation of ovarian tissue might impart fertility to at least some Turner syndrome individuals [20].
• Turner syndrome: the case of the missing sex chromosome [21].

Anatomical context of TNR1

• Amniotic-fluid alpha-fetoprotein in Turner syndrome [22].
• In regard to three situations involving fetuses with low-burden disorders (Turner syndrome, XYY, and a possible small neural tube defect), 84%-88% would counsel nondirectively [23].
• Both patients were female with stigmata of the Turner syndrome, and both had a 45,X cell line and a 46,XY cell line [24].
• Principle features of Turner syndrome include short stature, ovarian failure, and a variety of other anatomic and physiological abnormalities, such as webbed neck, lymphedema, cardiovascular and renal anomalies, hypertension, and autoimmune thyroid disease [25].
• She was of normal height and her breasts were well developed, but she had streak gonads; there were no signs of virilization, and she showed no somatic stigmata of Turner syndrome [26].

Associations of TNR1 with chemical compounds

• As an important therapeutic consideration, we describe psychologically detrimental effects of delayed estrogen treatment with an older Turner syndrome patient [4].
• To examine this further, we investigated temporal lobe morphology, metabolism and function in nine children with non-mosaic Turner syndrome using magnetic resonance imaging, (1)H magnetic resonance spectroscopy and neuropsychological testing and compared outcomes with results from nine age-matched control girls (46,XX) [27].
• Impaired glucose tolerance was present in most Turner syndrome patients (6 of 10), but not in the control subjects [28].
• Androgen-responsive aspects of cognition in girls with Turner syndrome [14].
• METHODS: One hundred fifty-four girls with Turner syndrome, aged 7-13 yr, were randomly assigned to one of two groups: 1) GH by sc injection six times per week (0.30 mg/kg.wk), and 2) control (C), no GH treatment [29].

Physical interactions of TNR1

• Normal somatomedin-C/insulin-like growth factor I binding and action in cultured human fibroblasts from Turner syndrome [30].

Other interactions of TNR1

• Twelve patients with different features of Turner syndrome, and with Xp and Yp rearrangements involving the pseudoautosomal region (PAR1) are described [31].
• These findings are consistent with the hypothesis that RPS4 deficiency has a role in Turner syndrome, a complex human phenotype associated with monosomy X [32].
• On the Y chromosome, RPS4Y maps to a 90 kb segment that has been implicated in Turner syndrome [17].
• A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism [33].
• Colony stimulating factor-2 receptor alpha (CSF2RA) and interleukin-3 receptor alpha (IL3RA), two genes from the chromosome Xp and Yp pseudoautosomal region (PAR), have been suggested as candidate genes for short stature in Turner syndrome [34].

Analytical, diagnostic and therapeutic context of TNR1

• None would have warranted karyotyping for clinical suspicion of Turner syndrome [35].
• The prevalence of 45,X/46,XX mosaicism is 10-fold higher among amniocenteses than in series of postnatally diagnosed individuals with Turner syndrome, which suggests that most individuals with this karyotype escape detection and that an ascertainment bias exists toward those with clinically evident abnormalities [35].
• In addition, Turner syndrome (45, X0) DNA can be distinguished from normal male DNA because it fails to amplify a Y-chromosome specific PCR marker yet contains only a single dose of X-specific STR markers [36].
• A patient with Turner syndrome died of a Stanford type A dissection at 36 weeks of pregnancy [37].
• METHODS: Areal bone density at the lumbar spine and femoral neck was measured in 40 adult women with Turner syndrome and 43 age-matched healthy women using dual-energy X-ray absorptiometry [13].

References