Peripheral precocious puberty in girls with McCune-Albright syndrome : a case series
Faria, A.G. (Universidade de São Paulo)
Montenegro, L.R. (Universidade de São Paulo)
Jorge, A.A.L. (Universidade de São Paulo)
Martin, R.M. (Universidade de São Paulo)
Fragoso, M.C.B.V. (Universidade de São Paulo)
Tinano, F.R. (Universidade de São Paulo)
Seraphim, C.E. (Universidade de São Paulo)
Canton, A.P.M. (Universidade de São Paulo)
Gomes, L.G. (Universidade de São Paulo)
Martos-Moreno, G.A. (Instituto de Salud Carlos III)
García, I.T. (Hospital Universitario Sanitas La Moraleja)
Carcavilla, A. (Hospital Universitario La Paz (Madrid))
Tirado Capistros, Mireia (Institut de Recerca Sant Pau)
Souza-Pinto, N.C. (Universidade de São Paulo)
Argente, J. (Hospital Infantil Universitario Niño Jesús (Madrid))
Latronico, A.C. (Universidade de São Paulo)
Mendonca, B.B. (Universidade de São Paulo)
Brito, V.N. (Universidade de São Paulo)
Universitat Autònoma de Barcelona

Data:	2025
Resum:	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 height was 155. 1 ± 8. 7 cm (-1. 17 SDS) in 10 patients. Menarche occurred at a mean age of 12. 2 ± 1. 04 years, 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.
Ajuts:	Instituto de Salud Carlos III PI19/00166
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	McCune-Albright syndrome ; Precocious puberty ; Aromatase inhibitors ; Tamoxifen ; Digital droplet PCR
Publicat a:	Archives of Endocrinology and Metabolism, Vol. 69 Núm. 2 (2025) , p. e240459, ISSN 2359-4292

DOI: 10.20945/2359-4292-2024-0459
PMID: 40366083

10 p, 355.5 KB

El registre apareix a les col·leccions:
Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut de Recerca Sant Pau
Articles > Articles de recerca
Articles > Articles publicats