Browsing by Author "Cattani, Andreina"

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    A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency
    (ENDOCRINE SOC, 2008) Artigas, Rocio A.; Gonzalez, Angel; Riquelme, Erick; Carvajal, Cristian A.; Cattani, Andreina; Martinez Aguayo, Alejandro; Kalergis, Alexis M.; Perez Acle, Tomas; Fardella, Carlos E.
    Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by unresponsiveness to ACTH. In this study, two mutations of the ACTH receptor (MC2R) gene are reported in this FGD clinical case.
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    A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type la and normal serum calcium and phosphate levels
    (SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA, 2010) Antunes Reis, Mariana Tenorio; Cattani, Andreina; Mendonca, Berenice Bilharinho; Silveira Correa, Pedro Henrique; Martin, Regina Matsunaga
    The objective of this study was to describe a new mutation in GNAS in a family with pseudohypoparathyroidism type la (PHP la), a rare osteometabolic disease. An 8-month-old boy was seen by an Endocrinologist due to obesity and low growth velocity. Noteworthy, his mother exhibited typical Albright hereditary osteodystrophy (AHO) phenotype. The clinical diagnosis of PHP la was suspected. The GNAS coding region from mother and son was amplified and directly sequenced. A novel heterozygous missense mutation (c.673T>C) was identified in exon 5 in both patients. In this family, the mother's clinical picture was the clue for the son's diagnosis. Molecular analysis of GNAS confirmed the diagnosis of PHP la in both patients and the child's early diagnosis was possible. Moreover, this novel missense substitution expands the spectrum of GNAS mutations associated with this disorder and allows for genetic counseling of this family. Arq Bras Endocrinol Metab. 2010;54(8):728-31
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    What is the best method for estimating final height in patients with precocious puberty?
    (2022) Quiroga, Daniela; Bruera, Maria Jose; Vidaurre, Josefa; Cerda, Jaime; Cattani, Andreina; Garcia, Hernan
    Central precocious puberty is the premature activation of the hypothalamic-pituitary-gonadal axis, leading to an early epiphyseal fusion and, in many cases, heights below the genetic target. Therefore, a proper adult stature prediction is essential for the treatment decision. Objective: To compare the concordance of final height using height prediction made by two validated methods versus the genetic target height in girls who consulted due to central precocious puberty. Patients and Method: Retrospective, non-concurrent cohort study including 93 girls with central precocious puberty, who were not treated with LHRH analogs and had reached their final adult height. The data was obtained from the clinical records. To predict height, the Bayley-Pinneau method and the Roche-WainerThissen method were applied, and the results were compared with the genetic target height. The concordance between the estimated final height and the final height obtained was evaluated using the Bland-Altman method. Results: When comparing the final height obtained with that predicted by the Bayley-Pinneau method, there was a mean difference of 1.01 cm, and using the Rocke-Wainer-Thissen method, there was a difference of +0.96 cm. The calculation of the genetic target height showed a difference of +0.05 cm with respect to the final height. Conclusion: The prediction of height made by the Bayley-Pinneau and Roche-Wainer-Thissen methods was adequate and, contrary to expectations, it was similar to the calculation of the genetic target height that does not use the age of bone maturation. This also presented better concordance and less dispersion of the results with respect to the final height obtained.