الفهرس 
TURNER SYNDROMEOnly 14 pages are availabe for public view
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Abstract
This study was conducted on 40 patients with TS, aged 9.71 to 26.32 years, attending the specialized Pediatric Endocrinology clinic, Ain Shams University.
All Patients were subjected to:
1- Full history taking laying stress on:
History of menarche, whether spontaneous or induced and age at menarche.
History of estrogen replacement therapy (ERT) including:
Whether the patient received ERT or not.
Whether the patient is currently on ERT or not.
Age at initiation of ERT.
Type of estrogen used.
Duration of ERT.
Mean dose of ERT (converted to 17β-estradiol equivalent dose).
History of progesterone therapy and type of progestin used.
History of GH therapy and its dose, duration and age at initiation.
2- Thorough clinical examination laying stress on:
Tanner breast staging (Marshall and Tanner 1969).
Height in centimeters: SDS’s of height for age were calculated according to both the norms of Tanner et al, 1966 and Ranke et al., 1983.
Weight in kilograms: SDS of weight for height was calculated according to the norms of Tanner et al, 1966.
Physical features of TS:
Micrognathia. Cubitus valgus.
Low posterior hairline. High arched palate.
Short fourth metacarpals. Pigmented naevi.
Neck webbing. Peripheral lymphedema.
Nail dysplasia. Shield like chest.
Lowset malformed ears.
3- Reviewing patient databases laying stress on:
Patient karyotype.
Echocardiography report for cardiovascular anomalies.
Abdominal ultrasonographic report for renal anomalies.
4- Pelvic transabdominal ultrasonographic imaging of the uterus and gonads:
B. The uterus:
Uterine dimensions were measured and uterine volume and fundal cervical ratio (FCR) were calculated.
Uterine development was evaluated in terms of size by the uterine length and uterine volume and in terms of shape by FCR.
We used size and shape normative data to characterize uterine maturity into three categories: mature, transitional and immature uterus (Bakalov et al., 2007).
C. The ovaries: Ovarian visibility and volume were mentioned.
The data on uterine length and volume and ovarian volume were transferred into SDS (Haber and Ranke, 1999).
The study showed that:
Eleven of our patients achieved induced menarche by hormone replacement therapy (HRT), while none achieved spontaneous menarche.
Regarding Tanner breast stage, 14 patients (35%) were in stage I, ten patients (25%) were in stage II, nine patients (22.5%) were in stage III, two patients (5%) were in stage IV and five patients (12.5%) were in stage V.
Sixteen patients (40%) has pure 45X monosomy karyotype, while 9 patients (22.5%) has pure structural X chromosome abnormality, five patients (12.5%) has mosaicism between normal 46XX cells and other abnormal karyotypes consistent with TS, and the remainders 10 patients (25%) has mosaicism between two or three different abnormal karyotypes consistent with TS.
Of our patients, 57.5% (23/40) started estrogen (intramuscular estradiol, oral conjugated estrogens or oral ethinyl estradiol) at a mean age of 17.52 ± 1.95 years (range: 14.69–22.3 years), was taking estrogen for a mean duration of 2.86 ± 2.35 years (range: 0.33–7.23 years) in a mean dose of 1.19 ± 0.82 mg/day (range: 0.16–2.78 mg/day) in 17β-estradiol equivalent dose and were currently on estrogen at the time of study. The remainder 42.5% (17/40) had never taken estrogen.
Thirty percent (12/40) of our patients were taking a progestin (medroxyprogesterone, norethisterone or levnorgestrel).
Twenty percent (8/40) were treated with GH in a dose of 30 IU/m2/week, for a mean duration of 2.34 ± 1.35 years (range: 0.71–4.0 years). The mean start age for GH was 13.57 ± 3.45 (range: 8.16–17.98).
Most of our patients (26/40; 65%) had an immature uterus and 7/40 (17.5%) had fully mature uterus, while the remainder (7/40; 17.5%) had transitional uterus.
In 19/40 (47.5%) of our patients both ovaries could be seen, while in one patient (1/40; 2.5%) only the right ovary could be seen. The remainder (20/40; 50%) had invisible both ovaries.
Uterine volume was influenced significantly by age, height, weight, years of estrogen use, mean estrogen dose, current use of estrogen and Tanner breast stage.
There was no significant difference in uterine volume with different types of estrogen used in our study.
There was no correlation between uterine volume and the age at first exposure to estrogens.
While uterine volume was influenced by height and weight, height and weight SDS had no influence on it.
Karyotype was found to have no influence on uterine volume and maturity.
When we explored the combined influence of several independent variables, the degree of uterine maturity was positively associated with years of estrogen use and conjugated estrogen-based HRT. The age at first exposure to estrogen, again, had no influence over the uterine maturity.
Six patients (15%) had cardiovascular abnormalities detected by echocardiographic examination, while five patients (12.5%) had renal abnormalities detected by abdominal ultrasonographic examination.
A comparison between 45X and 46X,i(Xq) karyotypes in physical features of TS, cardiovascular abnormalities, renal abnormalities and anthropometric measures showed no statistically significant difference between these two karyotypes in any of these features.