Now showing items 1-5 of 5

    • Bone mineralization in Turner syndrome: a transverse study of the determinant factors in 58 patients 

      Costa, AMG; Lemos-Marini, SHV; Baptista, MTM; Morcillo, A. M.; Maciel-Guerra, A. T.; Guerra, G. (Springer, 2002-01-01)
      Turner syndrome (TS) is characterized by the presence of an X chromosome and total or partial loss of the second sex chromosome, short stature, hypergonadotrophic hypogonadism, and a variable dysmorphic picture. Delayed ...
    • Congenital perineal lipoma presenting as ambiguous genitalia 

      Guerra-Junior, G.; Aun, A. M. E.; Miranda, M. L.; Beraldo, L. P.; Moraes, S. Guimaraes; Baptista, M. T. M.; Marques-de-Faria, A. P.; Maciel-Guerra, A. T. (Georg Thieme Verlag Kg, 2008-08-01)
      Background: Congenital perineal lipoma is extremely rare and may lead to a misdiagnosis of ambiguous genitalia.Case Reports: We report on two girls referred to our service for ambiguous genitalia. Patient 1 (17 clays old) ...
    • Effects of growth hormone on body proportions in Turner syndrome compared with non-treated patients and normal women 

      Baldin, A. D.; Fabbri, Tatiana [UNIFESP]; Siviero-Miachon, A. A. [UNIFESP]; Spinola-Castro, A. M. [UNIFESP]; Lemos-Marini, S. H. V.; Baptista, M. T. M.; D'Souza-Li, L. F. R.; Maciel-Guerra, A. T.; Guerra-Junior, G. (Editrice Kurtis S R L, 2010-11-01)
      Background: the majority of anthropometric assessments in Turner syndrome (TS) patients has focused on height. AIM: To analyze body proportions in young adult TS patients either treated or not treated with rhGH, and to ...
    • Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia 

      Stuchi-Perez, E. Gabas; Lukas-Croisier, C.; De Castro, M.; Baptista, MT Matias; Scolfaro, M. Ribeiro; Marques-De-Faria, A. P.; Hackel, C.; Maciel-Guerra, A. T.; Guerra, G. (Freund Publishing House Ltd, 2000-06-01)
      Investigation of the origin of sexual ambiguity is complex. Although testicular function has traditionally been assessed only by examining the steroidogenic capacity of Leydig cells and spermatogenesis, it has recently ...
    • The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development 

      Cunha, J. L.; Soardi, F. C.; Bernardi, R. D.; Oliveira, L. E. C.; Benedetti, C. E.; Guerra-Junior, G.; Maciel-Guerra, A. T.; Mello, Maricilda Palandi de [UNIFESP] (Assoc Bras Divulg Cientifica, 2011-04-01)
      Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box ...