scholarly journals Mosaicismos e polimorfismos genéticos na Síndrome de Turner: revisão de literatura / Mosaicisms and genetic polymorphisms in Turner's Syndrome: literature review

2021 ◽  
Vol 4 (4) ◽  
pp. 16723-16730
Author(s):  
Thalya Vitoria Becher ◽  
Kamuni Akkache Coutinho ◽  
Leonardo Luiz Castelli Junior ◽  
Denise Alves Lopes ◽  
Rosiley Berton Pacheco
Thyroid ◽  
2005 ◽  
Vol 15 (9) ◽  
pp. 1061-1066 ◽  
Author(s):  
S. Livadas ◽  
P. Xekouki ◽  
F. Fouka ◽  
C. Kanaka-Gantenbein ◽  
I. Kaloumenou ◽  
...  

2010 ◽  
Vol 24 (5) ◽  
pp. 668-672 ◽  
Author(s):  
Sofia Bouchlariotou ◽  
Panagiotis Tsikouras ◽  
Marina Dimitraki ◽  
Apostolos Athanasiadis ◽  
Ioannis Papoulidis ◽  
...  

2002 ◽  
Vol 35 (1) ◽  
pp. 84-87 ◽  
Author(s):  
Yasemen Eroglu ◽  
Karan M. Emerick ◽  
Pauline M. Chou ◽  
Marleta Reynolds

Author(s):  
A. González-Angulo ◽  
S. Armendares-Sagrera ◽  
I. Ruíz de Chávez ◽  
H. Marquez-Monter ◽  
R. Aznar

It is a well documented fact that endometrial hyperplasia and adenocarcinoma may develop in women with Turner's syndrome who had received unopposed estrogen treatment (1), as well as in normal women under contraceptive medication with the sequential regime (2). The purpose of the present study was to characterize the possible changes in surface and glandular epithelium in these women who were treated with a sequential regime for a period of between three and eight years. The aim was to find organelle modifications which may lead to the understanding of the biology of an endometrium under exogenous hormone stimulation. Light microscopy examination of endometrial biopsies of nine patients disclosed a proliferative pattern; in two of these, there was focal hyperplasia. With the scanning electron microscope the surface epithelium in all biopsies showed secretory cells with microvilli alternating with non secretory ciliated cells. Regardless of the day of the cycle all biopsies disclosed a large number of secretory cells rich in microvilli (fig.l) with long and slender projections some of which were branching (fig. 2).


1974 ◽  
Vol 77 (1_Suppl) ◽  
pp. S48 ◽  
Author(s):  
F. Majewski ◽  
J. R. Bierich ◽  
M. Barz ◽  
W. F. Haberlandt ◽  
M. Stoeckenius

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S157-S163 ◽  
Author(s):  
K.W. KASTRUP ◽  
_ _

Abstract Early therapy with a low dose of estrogen (estradiol-17β) was given to 33 girls with Turner's syndrome (T.s.) for a period of 4 years. The dose (0.25-2 mg/day) was adjusted every 3 months to maintain plasma estradiol in the normal concentration range for bone age. Growth velocity was compared with that of untreated girls with T.s. All girls were above age 10 years. Bone age was below 10 years in 11 girls (group I) and above 10 years in 22 girls (group II). Growth velocity in the first year of treatment in group I 7.5 ± 1.3 cm (SD) with mean SD score (SDS) of +4.3 and in group II 4.9 ± 1.3 with mean SDS of +3.5. Growth velocity decreased in the following years to 1.6 ± 1.0 cm, SDS -1.44 in group I and 0.9 ± 0.6cm, SDS -2.34 in group II during the fourth year. Withdrawal bleeding occurred in 16 girls of group II after the mean of 23 (range 15-33) months and in 3 girls of group I after 15 to 51 months of treatment. The treatment did not cause an inappropriate acceleration of pubertal development. Breast development appeared in most girls by 3 months of treatment. Pubic hair appeared by 12 months of treatment in group I; it was present in most girls in group II at start of treatment. Final height is known for 12 girls of group II; it was 144.2 ± 4.5 cm. The final height as predicted at the start of therapy was 142.2 ± 5.3 cm. Bone age advanced in the first year of treatment by 2 years. Early treatment with small doses of estrogens induces a growth spurt and normalizes the events of puberty. This will presumably decrease the psychological risks associated with abnormally delayed development.


1989 ◽  
Vol 121 (4) ◽  
pp. 513-519 ◽  
Author(s):  
Hiroshi Tomita ◽  
Masamichi Ogawa ◽  
Takashi Kamijo ◽  
Osamu Mori ◽  
Eiji Ishikawa ◽  
...  

Abstract. GH values were determined by a highly sensitive sandwich enzyme immunoassay in the 1st morning and/or 24-h accumulated urine samples in 94 children (short stature 70, including 14 with complete GH deficiency, 9 with partial GH deficiency, and 47 with GH-normal short stature; Turner's syndrome, 10, and simple obesity, 14). GH values were also determined in the 2nd to 4th urine samples taken on the same day together with the 1st morning urine in 5 of them. GH values in the 1st morning urine correlated significantly with those of the 24-h urine and with serum peak and mean GH values during nocturnal sleep as a physiological GH secretion test. The 2nd to 4th urines had lower GH concentrations than the 1st morning urine. The GH value of the 1st morning urine in complete GH deficiency was significantly lower than those in GH-normal short stature, partial GH deficiency and Turner's syndrome. However, no significant difference was detected in urinary GH values between complete GH deficiency and simple obesity. We conclude that 1st morning urinary GH estimation may be useful for differentiation of complete GH deficiency from other causes of short stature, but may be difficult for the distinction between complete GH deficiency and obesity with normal GH secretory ability.


2016 ◽  
Author(s):  
Matilde Calanchini ◽  
Ahmad Moolla ◽  
Jeremy W Tomlinson ◽  
Jeremy Cobbold ◽  
Andrea Fabbri ◽  
...  

2017 ◽  
Author(s):  
Matilde Calanchini ◽  
Ahmad Moolla ◽  
Jeremy W Tomlinson ◽  
Jeremy Cobbold ◽  
Andrea Fabbri ◽  
...  

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