ELAINE MARIA FRADE COSTA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
12 resultados
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bookPart Distúrbios do desenvolvimentos sexual(2017) DOMENICE, Sorahia; COSTA, Elaine Maria Frade; MENDONçA, Berenice Bilharinho debookPart Deficiência androgênica do envelhecimento masculino - como avaliar e quando tratar(2015) COSTA, Elaine Maria Frade- Physiology of male gonadotropic axis and disorders of sex development(2017) MENDONCA, B. B. de; COSTA, E. M. F.The hypothalamic-pituitary-testicular axis is activated in the third trimester of intrauterine life and during the neonatal period. Fetus testes differentiate by the end of the fifth embryonic week, before the gonadotrophs are functionally active. Therefore, GnRH deficiency does not affect male sexual differentiation. The 46,XY disorders of sex development (DSD) are characterized by atypical or female external genitalia, caused by incomplete intrauterine masculinization, in the presence or absence of Müllerian structures. 46,XY DSD result from decreased production of testosterone, decreased conversion of testosterone into dihydrotestosterone, or from impairment of their peripheral action. Under histological analysis, testicular tissue in patients with 46,XY DSD can be absent, partially or completely dysgenetic, or almost normal. Taking in account testosterone levels, the etiology of the 46,XY DSD can be classified into two large groups: low testosterone secretion and normal or high testosterone secretion. Most patients with DSD present with atypical genitalia and their sex assignment may be a complex procedure. The choice of male sex-of rearing in 46,XY babies with atypical genitalia is a challenging situation. The participation of a multidisciplinary team is essential during this process and the immediate identification of a molecular defect causing the disorder might aid in this decision. © Springer International Publishing Switzerland 2017.
- Benefits and adverses effects of testosterone therapy(2017) COSTA, E. M. F.; AMATO, L. G. L.; SILVEIRA, L. F. G.Testosterone plays an essential role in several aspects of men’s health. The main indication for testosterone treatment is in men with a confirmed diagnosis of hypogonadism, signs of androgen deficiency, and low serum testosterone levels. Other possible indications include constitutional delay of growth and puberty, men with sexual dysfunction, female to male transgender persons, androgen deficiency in the aging male, hypogonadism secondary to drugs, and chronic illness. Common drug-related adverse events include increase in hematocrit, acne, breast tenderness, gynecomastia, and exogenous testosterone can lead to a state of transitory infertility. It is not recommended to begin testosterone replacement therapy in men with untreated severe obstructive sleep apnea or with benign prostatic hypertrophy. The effects of testosterone on lipid metabolism and cardiovascular risk remain uncertain. In each situation the testosterone replacement brings specific benefits but the overall goals of therapy are to establish and maintain secondary sexual characteristics, sexual function, sense of well-being, and to improve body composition, muscle mass and strength, bone mineral density, and quality of life. © Springer International Publishing Switzerland 2017.
bookPart Distúbios do Desenvolvimento Sexual(2016) COSTA, Elaine Maria Frade; DOMENICE, Sorahia; MENDONçA, Berenice Bilharinho debookPart Manuseio do retardo puberal(2013) GADELHA, Patricia Sampaio; COSTA, Elaine Maria Frade; LATRONICO, Ana Claudia; MENDONçA, Berenice Bilharinho debookPart Hipogonadismo(2022) COSTA, Elaine Maria Frade; LATRONICO, Ana Claudia- 46,XY DSD due to 17 Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency(2014) MENDONCA, Berenice B.; COSTA, Elaine M.F.; INACIO, Marlene; OLIVEIRA JUNIOR, Ari A.; MARTIN, Regina M.; NISHI, Mirian Y.; MACHADO, Aline Z.; CARVALHO, Filomena Marino; DENES, Francisco Tibor; DOMENICE, Sorahia17beta-hydroxysteroid dehydrogenase 3 deficiency (17beta-HSD3) consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. Patients present female-like or with ambiguous genitalia at birth and most affected males are raised as females. Virilization in subjects with 17beta-HSD3 deficiency occurs at the time of puberty and almost half change to be males. Maintenance of the testes in patients raised male is safe and recommended, except when the testes cannot be positioned inside the scrotum. The phenotype of 46,XY disorders of sex development (DSD) owing to 17beta-HSD3 deficiency is extremely variable and is clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5alfa-reductase 2 deficiency. Laboratory diagnosis is based on elevated serum levels of androstenedione and estrone and low levels of testosterone and estradiol, resulting in elevated androstenedione:testosterone and estrone:estradiol ratios, indicating an impairment of the conversion of 17-keto into 17-hydroxysteroids. The disorder is due to homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17beta-HSD3 isoenzyme. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review the reported and our own cases of 17beta-HSD3 deficiency.
bookPart Hipogonadismo masculino(2017) SILVEIRA, Leticia Ferreira Gontijo; COSTA, Elaine Maria Frade; LATRONICO, Ana ClaudiabookPart Diferenças do desenvolvimento sexual(2022) DOMENICE, Sorahia; COSTA, Elaine Maria Frade; BACHEGA, Tânia Sanchez; MENDONçA, Berenice Bilharinho de