الفهرس 
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Abstract
The present cross- sectional study was conducted on 30 patients with TS whose ages ranged from 0.43 to 25.49yrs, with a mean age of 15.7285.48 years, attending the specialized Pediatric Endocrinology clinic, Children’s hospital, Ain Shams University during the period from October 2009 to October 2010.
The aim of this study was to determine the prevalence of autoimmune thyroiditis and cleliac disease among patients with TS and its relation to karyotype and clinical manifestations.
All Patients were subjected to full medical history, full clinical examination, anthropometric measurements, Tanner pubertal staging, and measurement of Anti-TPO and anti- TG antibodies for autoimmune thyroiditis and anti-T.T.IgA antibodies for celiac disease.
The study showed that:
A. Out of 30 studied patients, 9 patients had positive anti-TPO (30%) and 3 had positive anti-TG (10%) and none of the cases had positive Anti- T.T.IgA antibodies. Out of the 9 cases with positive Anti-TPO, the karyotype was 45X in 3 cases, 46X,iX(q) in 3 cases, 45X,46XX in 2 cases, 45X,46X,i(Xq) in 1 case. The Tanner breast stage was B1 in 4 cases, B2 in 4 cases, B4 in 1 case. Out of cases with positive Anti- TPO antibodies: 3 cases had micrognathia, 1 had cubitus valgus, 3 had low posterior hairline, 2 had high arched palate, 6 had webbed neck, 3 had peripheral lymphedema, 1 had nail dysplasia, 1 had shield like chest, none of the cases had short metacarpals or pigmented nevi, also none of the cases had low set malformed ear, cardiovascular and renal congenital anomalies, 1 had goiter grade 2. Out of the 9 cases with positive anti- TPO antibodies one case had hypothyroidism (low Free T4=0.69ng/dl and high TSH= 10.8uIU/ml), and 3 cases had positive anti-TG antibodies and none of the cases had positive anti-TTIgA.Abs.
Out of the 3 cases with positive Anti-TG, the karyotype was 45X in 1 case, 45X,46XX in 2 cases. The Tanner breast stage was B1 in 1 case, B2 in 1 case, B4 in 1 case. Out of cases with positive Anti- TG antibodies: 1 had cubitus valgus, 2 had low posterior hairline, 2 had webbed neck, 1 had peripheral lymphedema, 1 had nail dysplasia, none of the cases had micrognathia, high arched palate, short metacarpals, pigmented nevi, shield like chest and also none of the cases had low set malformed ear, cardiovascular and renal congenital anomalies. None of the 3 cases with positive anti-TG antibodies had goiter or thyroid dysfunction. All the 3 cases with positive anti-TG antibodies had positive anti-TPO antibodies and none of the cases had positive anti-TTIgA.Abs.
Patients with positive anti-TPO were older than those without such antibodies and this was the same for anti-TG abs.
Thyroid autoantibodies positivity showed non-signficant relations with tanner breast stage karyotype, cardiovascular, renal anomalies, goiter, TSH.
Anti-TPO positivity showed signficant relation with height for age SDS (Sempe).
Anti-TG positivity showed signficant relation with free-T4.
B. Regarding Tanner breast stage, 13 patients (43.33%) were in stage I, 9 patients (30%) were in stage II, 4 patients (13.33%) were in stage III, 4 patients (13.33%) were in stage IV.
C. Regarding frequency of karyotypes, 14cases (46.67%) had pure 45X monosmy karyotype, while 9 cases (30%) had pure structural X chromosome abnormality (Xq isochromosome), 7 cases (23.3%) had mosaicism between normal and other abnormal karvotypes consistent with TS.
D. Two patients (6.67%) had cardiovascular abnor-malities (MR) detected by echocardiographic examination, while two patients (6.67%) had renal abnormalities (horseshoe kidney, ectopic kidney) detected by abdominal ultrasonographic examination.
E. Regarding the phenotypic features, 10 patients (33.3%) had micrognathia, 4 patients (13.33%) had cubitus valgus, 7 patients (23.33%) had lymphedema, 14 patients (46.67%) had neck webbing, 2 patients (6.67%) had high arched palate, 9 patients (30%) had low posterior hairline, 1 patient (3.33%) had ear disorders, 4 patients (13.33%) had nail dysplasia, 2 patients (6.67%) had shield like chest, 1 patient (3.33%) had pigmented nevi, and all of them had short stature.
F.A comparison between karyotypes in physical features of TS, showed no statistically significant relations between these karyotypes in any of these features.