A5091753391- Hypothalamic control of reproductive hormones
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Nuclear Structure and Function
- Ubiquitin and proteasome pathways
- Reproductive Biology and Fertility
- Genomics and Chromatin Dynamics
- Williams Syndrome Research
- Bone Tumor Diagnosis and Treatments
- Ovarian function and disorders
- Adrenal Hormones and Disorders
- interferon and immune responses
- Plant Reproductive Biology
- Ovarian cancer diagnosis and treatment
- Sexual Differentiation and Disorders
- Connective tissue disorders research
- Epigenetics and DNA Methylation
- Hormonal Regulation and Hypertension
- RNA Research and Splicing
Universidade de São Paulo
2023-2025
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2020-2023
Brigham and Women's Hospital
2023
Harvard University
2023
Central precocious puberty (CPP) can have a familial form in approximately one-quarter of the children. The recognition this inherited condition increased after identification autosomal dominant CPP with paternal transmission caused by mutations MKRN3 and DLK1 genes.
Abstract 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 DLK1 gene a French cohort idiopathic CPP. Additionally, we explored the pattern serum levels patients CPP and healthy at puberty, as well wild-type female mice. Patients Methods Genomic DNA was obtained from 121 index cases Automated sequencing...
Longer-acting gonadotropin-releasing hormone analogs (GnRHa) have been widely used for central precocious puberty (CPP) treatment. However, the follow-up of patients after this treatment are still scarce. Our aim was to describe anthropometric, metabolic, and reproductive CPP with leuprorelin acetate 3-month depot (11.25 mg).Twenty-two female idiopathic were treated mg). Their medical records retrospectively evaluated regarding clinical, hormonal, imaging aspects before, during, GnRHa until...
Abstract Disclosure: A.G. de Faria: None. L.R. Montenegro: A.A. Jorge: R.S. Jallad: R.M. Martin: M.C. Fragoso: A.P. Canton: C.E. Seraphim: F.R. Tinano: N.C. Pinto: B.B. Mendonca: A. Latronico: V.N. Brito: Background: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance frequently low several tissues, including blood cells. The emergence digital droplet Polymerase...
Abstract Disclosure: F.R. Tinano: None. S.A. Pereira: N.P. Boris: D.B. Macedo: A.P. Canton: A. Abreu: R.S. Carroll: Latronico: U.B. Kaiser: Context: Central precocious puberty (CPP) results from premature re-activation of the hypothalamic-pituitary-gonadal (HPG) axis. The most prevalent genetic cause CPP is loss-of-function mutations in makorin ring finger 3 (MKRN3), with delta-like 1 homolog (DLK1) occurring less frequently. While mechanisms by which MKRN3 regulates onset have been...
Abstract Disclosure: A.P. Canton: None. A. Latronico: L.R. Montenegro: C.E. Seraphim: F.R. Tinano: A.G. de Faria: B.B. Mendonca: V.N. Brito: Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, without nervous system (CNS) lesions. More recently, epigenetic disorders have been identified in children CPP, previously classified as...
Abstract Ovarian estrogen-secreting cysts leading to peripheral precocious puberty (PPP) are some of the major clinical manifestations McCune-Albright syndrome (MAS). Therapeutic options for PPP MAS include tamoxifen, progestational agents, aromatase inhibitors (AI) and anti-androgens that aiming block sex steroid synthesis or action. Here, we described anthropometric reproductive follow-up patients with treated distinct therapeutic agents. Thirteen unrelated girls were studied. They had...
Abstract Context: The clinical recognition of familial central precocious puberty (CPP) has significantly increased in the last years. This fact can be related to recent descriptions genetic causes associated with this pediatric condition, such as loss-of-function mutations two imprinted genes (MKRN3 and DLK1). Inherited defects both cause paternally inherited CPP. However, no abnormality been described families maternally CPP so far. Objectives: To characterize features several Setting...
Abstract Background: Central precocious puberty (CPP) is mostly described as an isolated entity. Few studies have shown association of CPP with complex cases or genetic syndromes, but without making inferences on molecular causalities. Objective: To genetically investigate a cohort patients associated phenotypes using high throughput methodologies. Patients and methods: From large idiopathic followed at university hospital outpatient clinic, thirty-eight were selected for investigation...
Abstract Background: X-linked congenital adrenal hypoplasia (CAH) is a rare disease caused by mutations in the NR0B1 (DAX-1) gene. Non-classical manifestations have been described, including late-onset insufficiency (AI) and gonadotropin-independent precocious puberty (GIPP). We report long-term endocrine neuropsychiatric outcomes of two siblings with CAH due to mutation NR0B1.Case report: A 2-yr-old boy was referred progressive clinical signs since 6 months age. At age 3 yr, AI diagnosed,...
Abstract Background Central precocious puberty (CPP) results from early reactivation of the hypothalamic-pituitary-gonadal (HPG) axis. Four monogenic causes CPP have been described (KISS, KISS1R MKRN3 and DLK1). Rare loss-of-function mutations DLK1, a maternally imprinted gene located on chromosome 14q32.2, were identified in families with CPP. Both inherited or de novo DLK1 these affected families. Objective To investigate genetic abnormalities French cohort patients idiopathic Patients:...