LIM/42 - Laboratório de Hormônios e Genética Molecular

O Laboratório de Hormônios e Genética Molecular é ligado ao Departamento de Clínica Médica da Faculdade de Medicina da Universidade de São Paulo (FMUSP).

Linhas de pesquisa: distúrbios da determinação e diferenciação sexual; genética molecular; endocrinologia do desenvolvimento; distúrbios puberais; endocrinologia do desenvolvimento; genética molecular; tumorigênese adrenocortical; distúrbios do crescimento; endocrinologia do desenvolvimento; biologia molecular e transcrição gênica; hiperplasia adrenal congênita; transcrição gênica; genética molecular; receptor de andrógenos; citocromos hepáticos P450; disfunções e tumorigênese adrenocortical; genética molecular e tumorigênese hipofisária na doença de Cushing.

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Recent Submissions

  1. S-GRAS score for prognostic classification of adrenocortical carcinoma: an international, multicenter ENSAT study

    EUROPEAN JOURNAL OF ENDOCRINOLOGY, v.186, n.1, p.25-36, 2022

    Objective Adrenocortical carcinoma (ACC) has an aggressive but variable clinical course. Prognostic stratification based on the European Network for the Study of Adrenal Tumours stage and Ki67 index is limited. We aimed to demonstrate the prognostic role of a points-based score (S-GRAS) in a larg...

  2. Cytoreductive Surgery of the Primary Tumor in Metastatic Adrenocortical Carcinoma: Impact on Patients' Survival


    Context The role of cytoreduction of adrenocortical carcinoma (ACC) remains poorly understood. Objective To analyze the impact of cytoreductive surgery of the primary tumor in patients with metastatic ACC. Design and Setting We performed a multicentric, retrospective paired cohort study comparing...

  3. Perioperative Management of Pheochromocytomas and Sympathetic Paragangliomas

    JOURNAL OF THE ENDOCRINE SOCIETY, v.6, n.2, article ID bvac004, 8p, 2022

    Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla or extra-adrenal paraganglia, respectively. PPGLs have the highest degree of heritability among endocrine tumors. Currently, similar to 40% of individuals with PPGLs ha...

  4. Supplementation of omega-3 and dietary factors can influence the cholesterolemia and triglyceridemia in hyperlipidemic Schnauzer dogs: A preliminary report

    PLOS ONE, v.16, n.10, article ID e0258058, 14p, 2021

    Primary hyperlipidaemia in Schnauzer is characterized by increased plasma triglycerides (TG) and/or total cholesterol (TC) concentration and is associated with an increased risk of developing pancreatitis, insulin resistance and seizures. In humans, omega-3 fatty acids in addition to a low-fat di...

  5. Precocious sexual maturation: Unravelling the mechanisms of pubertal onset through clinical observations

    JOURNAL OF NEUROENDOCRINOLOGY, v.34, n.2, Special Issue, article ID e12979, 11p, 2022

    Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed, and reproductive capacity is reached. Pubertal timing is not only determined by genetics, but also by endogenous and environmental cues, inc...

  6. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant

    ARCHIVES OF ENDOCRINOLOGY METABOLISM, v.66, n.1, p.104-111, 2022

    We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In this autosomal dominant form of growth hormone deficie...

  7. Cushing's syndrome due to ectopic adrenocorticotropin secretion by a parotid carcinoma

    ARCHIVES OF ENDOCRINOLOGY METABOLISM, v.66, n.1, p.92-96, 2022

    We report a rare case of Cushing's syndrome in a 37-year-old female who initially presented with localized acinic cell carcinoma of the parotid gland. In January 2014, she underwent a right parotidectomy with facial nerve preservation and adjuvant radiotherapy. In August 2018, she presented a his...

  8. Does Age at Diagnosis Influence Adult Phenotype in a Multicenter Cohort of Females with Nonclassic Congenital Adrenal Hyperplasia?

    HORMONE RESEARCH IN PAEDIATRICS, v.94, n.SUPPL 2, suppl.2, p.1-1, 2021

  9. Gonadal Tumor Risk, Bone Mineral Density, and Genetics, Clinical, Hormonal, and Psychosexual Aspects of a Large Androgen Insensitivity Syndrome Cohort

    HORMONE RESEARCH IN PAEDIATRICS, v.94, n.SUPPL 1, suppl.1, p.388-388, 2021

  10. Deciphering the genetics of central precocious puberty

    HORMONE RESEARCH IN PAEDIATRICS, v.94, n.SUPPL 1, suppl.1, p.18-18, 2021