Livros e Capítulos de Livros - LIM/42
URI Permanente para esta coleção
A coleção de Livros e Capítulos de Livros reúne capítulos e resumos de obras produzidas por autores do sistema FMUSP-HC que inclui a Faculdade de Medicina da Universidade de São Paulo (FMUSP), o Hospital das Clínicas da FMUSP e demais institutos associados.
Navegar
Submissões Recentes
- 46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency(2023) GOMES, N. L.; COSTA, E. M. F.; INACIO, M.; MARTIN, R. M.; NISHI, M. Y.; CARVALHO, F. M.; SIRCILLI, M. H. P.; TIBOR, F. D.; DOMENICE, S.; MENDONCA, B. B.In this chapter, we revise the epidemiological, clinical, hormonal, genetical findings and also the long-term outcomes of 46,XY individuals with 17β-HSD3 deficiency based on the review of previously reported cases and also our own cases. © 2023 Elsevier Inc. All rights reserved.
- Idiopathic Short Stature: Diagnostic and Therapeutic Approach(2022) CANTON, A. P. M.; JORGE, A. A. L.Our clinical case for discussion is about a short statured boy who was 14.6 years old at his first evaluation. He was born after a 39-week gestation as the third child of a non-consanguineous marriage. His birth weight was 3.250 g (-0.3 SDS), and his birth length was not available. His neuropsychomotor development was normal, his school performance was good, and there were no remarkable findings in his medical history. His father’s height was 174 cm (-0.1 SDS), and his mother’s height was 154 cm (-1.3 SDS), resulting in a target height of 170.6 cm (-0.6 SDS). His father and mother apparently had normal pubertal development, and his mother’s age of menarche was 13 years old. His older brother’s height was not available, but he had a previous history of pubertal spurt after 16 years of age. Likewise, his older sister’s height was also not available, but she had a previous history of menarche at 14. © Springer Nature Switzerland AG 2022.
bookPart Crise tireotóxica(2017) DANILOVIC, Debora Lucia Seguro; ALMEIDA, Madson Queiroz de; BRANDãO NETO, Rodrigo Antonio; MARTINS, Herlon SaraivabookPart Estado mixedematoso(2017) DANILOVIC, Debora Lucia Seguro; ALMEIDA, Madson Queiroz de; BRANDãO NETO, Rodrigo Antonio; MARTINS, Herlon SaraivabookPart Puberdade precoce(2021) RAMOS, Carolina de OliveirabookPart Tireoide(2023) MARUI, Suemi; BRITO, Luciana PintobookPart Avaliação do crescimento(2023) BRITO, Luciana Pinto; DAMIANI, Durval; JORGE, Alexander Augusto de Lima- 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 3 Citação(ões) na Scopus Adrenal tumors(2015) LIROV, R.; ELSE, T.; LERARIO, A. M.; HAMMER, G. D.- Genetic Syndromes Presenting in Childhood Affecting Gonadotropin Function(2019) CLOSE, S.; LATRONICO, A. C.; CUNHA-SILVA, M.This chapter will focus on two genetic syndromes affecting gonadotropin function that typically present in childhood, Klinefelter syndrome, and testotoxicosis. Klinefelter syndrome (47, XXY) is the most common sex chromosome aneuploidy with a prevalence of 1 in 450-500 male births. Unless detected by prenatal screening or prenatal diagnosis, this chromosome variation diagnosis is frequently missed in children. Physical, neurocognitive, and psychosocial phenotypes of boys with 47, XXY are extremely variable, making a typical case difficult to characterize. Health care needs of boys born with 47, XXY are complex including the need for monitoring growth, pubertal development, optimization of reproductive capacity, bone health, and acknowledgement of physical symptoms such as fatigue, hypotonic muscle strength, tremors, tics, and pain. Physical health risks associated with 47, XXY include: metabolic syndrome, Type II diabetes, cardiovascular disease, immunological issues, bone loss, and certain types of malignancies. Boys with 47, XXY frequently show executive function issues, language-based learning difficulties, problems with communication, and struggles with behavior that contribute to stressors for the boys as well as for their families. Psychosocial manifestations of these stressors include low self-esteem, increased risk for depression, difficulties maintaining personal relationships, and adverse quality of life. There is a general lack of awareness in the health care community about the complexities of care required for families who have sons with 47, XXY. Since puberty is a sentinel time for diagnosing and monitoring hypogonadism, families often depend on professionals in the specialty of endocrinology to address their many concerns. Families seeking anticipatory guidance about how 47, XXY will influence the growth and development of their sons often look to the specialty of endocrinology to help them navigate a health care environment that is confusing to them. This chapter will describe the physical, neurocognitive, and psychosocial phenotype of 47, XXY in childhood and provide suggestions for endocrine-related health surveillance for advanced practice nurses (APRN). APRNs in endocrinology practice are perfectly positioned to assess, coordinate, and provide family-centered navigation for health surveillance according to child’s level of development. Testotoxicosis or familial male-limited precocious puberty is a rare dominant form of gonadotropin-independent precocious puberty caused by constitutively activating mutations of the luteinizing hormone receptor. Affected males present premature and progressive virilization associated with accelerated growth and advanced bone age between 2 and 4 years of age. Hormonal profile is characterized by elevated testosterone levels, despite prepubertal levels of luteinizing hormone. Treatment typically consists of reducing hyperandrogenism with ketoconazole or a combination of antiandrogens and aromatase inhibitors. © Springer Nature Switzerland AG 2019.
- Growth defects in noonan syndrome(2012) MALAQUIAS, A. C.; JORGE, A. A. L.Noonan syndrome is one of the most common syndromes transmitted by a Mendelian mode and is mainly characterized by dysmorphic facial features, congenital heart disease, and proportionate postnatal short stature. In recent years, germline mutations that affect components of the RAS/MAPK (mitogen-activated protein kinase) pathway as PTPN11, KRAS, SOS1, and RAF1 genes were shown to be involved in the pathogenesis of Noonan syndrome as well as of four rare syndromes with phenotype overlapping with Noonan syndrome: LEOPARD syndrome, cardiofaciocutaneous syndrome, Costello syndrome, and neurofibromatosis type 1. These mutations are predicted to be gain-of-function defects increasing signaling down the RAS/MAPK pathway. Some genotype-phenotype correlation has been reported in Noonan syndrome patients, allowing screening for mutations in Noonan syndrome-related genes based on clinical signs. Several hormones act through receptors that stimulate the RAS/MAPK pathway, and therefore, Noonan syndrome and related disorders represent a remarkable opportunity to study the implication of the RAS/MAPK pathway in different endocrine systems, including the GH/IGF-1 system. Additionally, similarly to Turner syndrome, growth velocity and final height of Noonan syndrome patients can be improved by recombinant human growth hormone treatment. In this chapter, we review the diagnostic, clinical, and molecular aspects of Noonan syndrome and rhGH treatment of short stature in these patients. © Springer Science+Business Media, LLC 2012. All rights reserved.
- Catch-up growth in patients with congenital or acquired growth hormone deficiency after GH replacement: Clinical features and hypothalamic-pituitary imaging(2012) CARVALHO, L. R.; ARNHOLD, I. J. P.; MENDONCA, B. B.; COSTALONGA, E. F.; OTTO, A. P.; LEITE, C. Da Costa; LUCATO, L. T.; PERUCHI, M. M.Hypothalamic and pituitary disorders usually impair statural growth. These disorders may be either congenital or acquired with differences in clinical presentation. Growth failure is mainly related to growth hormone deficiency (GHD) that can be accompanied by other pituitary hormone deficiencies. The onset of clinical features may be insidious and unnoticed for years or decades. Therefore, it is important to periodically assess auxologic data such as height, growth velocity, bone maturation and evaluate hormonal levels related to hypothalamic-pituitary axis in these patients. Magnetic resonance imaging (MRI) greatly improved the study of central nervous system (CNS) disorders including the hypothalamic-pituitary region. Currently, it is an essential tool in the definition of the etiology of GHD. It can detect tumors that may require surgical intervention, and also provide insights into other causes of GHD. Catch up growth of congenital disorders is essentially dependent on hormone replacement. Even with an initial diagnosis of IGHD, attention should be given to the risk of the development of multiple pituitary hormone deficiencies. In addition to the hormonal deficiencies due to the acquired disorder themselves; their treatment (surgery, irradiation, chemotherapy) often leads to combined pituitary deficits. Growth responsiveness to rhGH has safety aspects of treatment which deserve additional discussion. © Springer Science+Business Media, LLC 2012. All rights reserved.
- 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.
- Testosterone and endocrine disruptors: Influence of endocrine disruptors on male reproductive tract(2017) FONTENELE, E.; QUEZADO, R.; BACHEGA, T. S.A wide variety of chemical compounds with endocrine disruptor (EDC) activity have been recognized for environmental control agencies worldwide, including pesticides, pollutants, and substances used in the production of plastics. Biomonitoring studies have identified the compounds in adults, children, pregnant women, and fetuses. EDCs are contributing to the increased prevalence of chronic diseases, including those related to the reproductive system. Initially, it was assumed that EDCs exert their adverse effects by binding to hormone receptors and transcription factors, but it is currently known that they may also alter the expression of enzymes involved in the steroid synthesis and/or catabolism or cause epigenetic changes. The true impact of endocrine disruptors on human health is difficult to assess because specific end points may be differentially affected at different ages. Humans are exposed to east hundreds of environmental chemicals and a major limitation of epidemiologic studies is that usually they measured the human exposure to a single EDC. The EDCs are an international problem and the public, the media, politicians, and governmental agencies should be educated on ways to avoid EDC exposure. © Springer International Publishing Switzerland 2017.
bookPart Puberdade precoce periférica(2021) MATSUZAKI, Cezar Noboru; BRITO, Vinícius Nahime de; ALMEIDA, José Alcione MacedobookPart Puberdade precoce central(2021) BRITO, Vinícius Nahime de; LATRONICO, Ana Claudia; MENDONçA, Berenice BilharinhobookPart Classificação das diferenças do desenvolvimento sexual e caracterização das DDS 46,Xy disgenéticas(2021) DOMENICE, Sorahia; MENDONçA, Berenice Bilharinho debookPart Fisiologia da puberdade feminina(2021) LATRONICO, Ana Claudia; BRITO, Vinícius Nahime debookPart Diabetes insipidus(2022) MOISéS, Caio Célio Santiago; ALMEIDA, Madson Queiroz debookPart Síndromes endócrinas neoplásicas e paraneoplásicas(2022) JúNIOR, Delmar Muniz Lourenço; HOFF, Ana Amélia Fialho de Oliveira; ALMEIDA, Madson Queiroz de