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Faria, Aline Guimaraes
;
Montenegor, Luciana R.
;
Jorge, Alexander Augusto Lima
;
Martin, Regina Matsunaga
;
Fragoso, Maria Candida Barisson Villares
;
Tinano, Flavia R.
;
Seraphim, Carlos E.
;
Canton, Ana Pinheiro Machado
;
Gomes, Larissa G.
;
Martos-Moreno, Gabriel A.
;
Garcia, Irene Tarjuelo
;
Carcavilla, Atilano
;
Tirado-Capistros, Mireia
;
Souza-Pinto, Nadja Cristhina
;
Argente, Jesus
;
Latronico, Ana Claudia
;
Mendonca, Berenice Bilharinho
;
Brito, Vinicius Nahime
Número total de Autores: 18
|
| Tipo de documento: | Artigo Científico |
| Fonte: | ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 69, n. 2, p. 10-pg., 2025-01-01. |
| Resumo | |
Objective: To describe the follow-up of girls with peripheral precocious puberty (PPP) due to McCune-Albright syndrome (MAS). Subjects and methods: Data from 18 females, including anthropometric and reproductive outcomes, were evaluated. Genetic analysis was performed on DNA from peripheral leukocytes via digital PCR. Results: Clinical manifestations of PPP were isolated thelarche, thelarche plus vaginal bleeding, or isolated vaginal bleeding in 44.5%, 33.3%, and 22.2%, respectively, at an early age (3.3 +/- 1.6 years). At diagnosis, basal LH and FSH levels were suppressed in 100% and 72.2% of cases, respectively, and estradiol ranged from prepubertal to high levels. The mean bone age advancement was 2.3 +/- 1.9 years. Treatment included medroxyprogesterone acetate, tamoxifen, aromatase inhibitors, and ketoconazole, individually or in combination for 5 +/- 2.14 years, with partial or complete control of puberty. Secondary central precocious puberty was diagnosed in 57.1% (8/14) of the patients. Fibrous dysplasia was diagnosed in 11 patients and managed with bisphosphonates for those with bone pain. The mean adult heightwas 155.1 +/- 8.7 cm (-1.17 SDS) in 10 patients. Menarche occurred at a mean age of 12.2 +/- 1.04years, 70% reported regular menstrual cycles and only one female desired pregnancy. Genetic diagnosis was established in 52.9% (9/17) of the patients. Conclusion: Medical treatment of PPP was effective in girls with MAS and led to preservation of adult height potential, and reproductive function was normal when patients reached adulthood (AU) | |
| Processo FAPESP: | 17/04372-0 - DNA mitocondrial: mecanismos de manutenção de sua estabilidade e impacto em doenças |
| Beneficiário: | Nadja Cristhina de Souza Pinto |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |
| Processo FAPESP: | 22/00719-4 - Ampla investigação genética e epigenética de pacientes com puberdade precoce central sindrômica |
| Beneficiário: | Ana Pinheiro Machado Canton |
| Modalidade de apoio: | Bolsas no Brasil - Pós-Doutorado |
| Processo FAPESP: | 17/21567-0 - Avaliação do papel dos esteroides C19 clássicos e C19 11-oxigenados no excesso de andrógenos e no perfil metabólico de pacientes com Síndrome dos Ovários Policísticos |
| Beneficiário: | Larissa Garcia Gomes |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |
| Processo FAPESP: | 19/27631-7 - Estudos genéticos e epigenéticos dos distúrbios endócrinos do eixo reprodutivo |
| Beneficiário: | Ana Claudia Latronico Xavier |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |
| Processo FAPESP: | 21/12205-2 - Investigação das bases genéticas da Puberdade Precoce Central Familial de herança materna |
| Beneficiário: | Flávia Rezende Tinano |
| Modalidade de apoio: | Bolsas no Brasil - Doutorado Direto |