We studied the adult height (AH) outcome, and factors likely to influence it, in Turner Syndrome (TS) girls treated with growth hormone (GH). A total of 25 TS girls treated with GH were compared with 10 TS girls not treated with GH. The percentage of girls who achieved normal third percentile was determined. Projected AH (PAH) was calculated according to height standard deviation score (HSDS) a...

Turner syndrome (TS) is associated with a characteristic neurocognitive profile which includes average to low full scale intelligence quotient (FSIQ) with a significant discrepancy between verbal IQ (VIQ) and performance IQ (PIQ) [1].They have average verbal skills but weaker non verbal skills like visuospatial, perceptual, processing speed and executive functioning leading to problems in acade...

The prevalence of malocclusion in 32 Turner syndrome patients, age 7-16.7 years, was investigated. The sample was subdivided according to karyotype, and 72 normal girls, aged 7.1-16.1 years, served as controls. Compared with normal girls overjet did not differ significantly while overbite was significantly reduced in 45X patients. The prevalence of distal molar occlusion, anterior and lateral o...

Turner syndrome is a chromosomal disease frequently associated with autoimmune disorders including diabetes mellitus, thyroid disease and inflammatory bowel disease (IBD). Although the etiology of IBD has not been fully elucidated, genetic analysis has recently revealed several susceptibility genes. Recently, cases with Turner syndrome associated with IBD have been reported. We report here a 13...

BACKGROUND Parsonage-Turner syndrome is a rare and painful peripheral neuropathy that usually presents as brachial plexus neuritis and also has other nerve involvement. METHODS AND RESULTS Herein, we report the case of a patient with right recurrent nerve palsy as the first clinically isolated manifestation of underlying Parsonage-Turner syndrome. Idiopathic dysphonia was the only symptom pre...

Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of variability of 45,X/46,XY mosaicism extends from Turner syndrome to mixed gonadal dysgenesis to normal males. The specific phenotype is primarily dependent on the chromosomal constitution of the developing gonad. Similar phenotypic variabil...

HKJGOM 2005; 5 (1) 33 Introduction The most frequent foetal chromosomal abnormalities involve the autosomes 21, 18, 13 and sex chromosomes X and Y. Aneuploidy or alterations in copy number of these chromosomes, including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), 45,X (Turner syndrome), 47,XXY (Klinefelter syndrome) and Triploidy (presence of 3 copie...

Neuralgic amyotrophy (Parsonage-Turner syndrome or brachial plexus neuritis) is an uncommon syndrome whose cause is unknown. The suprascapular and axillary nerves and corresponding muscles are affected most frequently. The disorder exhibits a broad range of clinical manifestations, and patients frequently present to physicians of different subspecialties. Accurate diagnosis can be challenging a...