LIM/42 - Laboratório de Hormônios e Genética Molecular
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Editorial: A year in review: discussions in cancer endocrinology
FRONTIERS IN ENDOCRINOLOGY, v.14, article ID 1289156, 2p, 2023
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Adjuvant mitotane versus surveillance in low-grade, localised adrenocortical carcinoma (ADIUVO): an international, multicentre, open-label, randomised, phase 3 trial and observational study
LANCET DIABETES & ENDOCRINOLOGY, v.11, n.10, p.720-730, 2023
Background Adjuvant treatment with mitotane is commonly used after resection of adrenocortical carcinoma; however, treatment remains controversial, particularly if risk of recurrence is not high. We aimed to assess the efficacy and safety of adjuvant mitotane compared with surveillance alone foll...
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Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study
EUROPEAN JOURNAL OF ENDOCRINOLOGY, v.189, n.4, p.460-468, 2023
Importance: Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TAR...
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Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels
EUROPEAN JOURNAL OF ENDOCRINOLOGY, v.189, n.3, p.422-428, 2023
Background: Several rare loss-of-function mutations of delta-like noncanonical notch ligand 1 (DLK1) have been described in non-syndromic children with familial central precocious puberty (CPP). Objective: We investigated genetic abnormalities of DLK1 gene in a French cohort of children with idio...
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Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability
EUROPEAN JOURNAL OF ENDOCRINOLOGY, v.189, n.3, p.387-395, 2023
Objective Our study aimed to assess the impact of genetic modifiers on the significant variation in phenotype that is observed in individuals with SHOX deficiency, which is the most prevalent monogenic cause of short stature.Design and methods We performed a genetic analysis in 98 individuals fro...
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46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
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.. 46,XY differences of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency. In: . Genetic Steroid Disorders: Second Edition: ELSEVIER, 2023. p.289-299.
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.
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Idiopathic Short Stature: Diagnostic and Therapeutic Approach
Canton, A. P. M.; Jorge, A. A. L.. Idiopathic Short Stature: Diagnostic and Therapeutic Approach. In: . Endocrinology and Diabetes: A Problem Oriented Approach: Second Edition: SPRINGER INTERNATIONAL PUBLISHING, 2022. p.163-172.
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 neuropsych...
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GENERATING PITUITARY CELLS FROM INDUCED PLURIPOTENT STEM CELL (IPSC) OF PATIENTS WITH CHILD ONSET OF CONGENITAL HYPOPITUITARISM (CO-CH) HARBORING PROP1 PATHOGENIC ALLELIC VARIANTS
HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.1, p.16-16, 2023
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Clinical, psychological, and molecular aspects of a large androgen insensitivity syndrome cohort
HORMONE RESEARCH IN PAEDIATRICS, v.96, n.SUPPL 2, suppl.2, p.130-130, 2023
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PERIPHERAL PRECOCIOUS PUBERTY DUE TO A HCG-SECRETING TERATOMA IN PINEAL GLAND SITE: CHALLENGES IN THE DIAGNOSIS AND THERAPEUTIC MANAGEMENT
HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.1, p.33-34, 2023
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