Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series

• Published in: Archives of Endocrinology and Metabolism Vol. 69; no. 2; pp. 1 - 10
• Main Authors: Faria, Aline Guimarães, Seraphim, Carlos E., Tirado-Capistros, Mireia, Montenegro, Luciana R., Canton, Ana Pinheiro Machado, Souza-Pinto, Nadja Cristhina, Lima Jorge, Alexander Augusto, Gomes, Larissa G., Argente, Jesús, Martin, Regina Matsunaga, Martos-Moreno, Gabriel A., Latronico, Ana Claudia, Fragoso, Maria Candida Barisson Villares, García, Irene Tarjuelo, Mendonca, Berenice Bilharinho, Tinano, Flavia R., Carcavilla, Atilano, Brito, Vinicius Nahime
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade Brasileira de Endocrinologia e Metabologia 01.01.2025; Brazilian Society of Endocrinology and Metabolism
• Subjects: aromatase inhibitors; Aromatase Inhibitors - therapeutic use; Child; Child, Preschool; digital droplet PCR; Female; Fibrous Dysplasia, Polyostotic - complications; Fibrous Dysplasia, Polyostotic - drug therapy; Fibrous Dysplasia, Polyostotic - genetics; Follow-Up Studies; Humans; Ketoconazole - therapeutic use; McCune-Albright syndrome; Medroxyprogesterone Acetate - therapeutic use; Original; precocious puberty; Puberty, Precocious - drug therapy; Puberty, Precocious - etiology; tamoxifen; Tamoxifen - therapeutic use; aromatase inhibitors; McCune-Albright syndrome; precocious puberty; digital droplet PCR; tamoxifen
• ISSN: 2359-3997; 2359-4292; 2359-4292
• DOI: 10.20945/2359-4292-2024-0459

To describe the follow-up of girls with peripheral precocious puberty (PPP) due to McCune-Albright syndrome (MAS). Data from 18 females, including anthropometric and reproductive outcomes, were evaluated. Genetic analysis was performed on DNA from peripheral leukocytes via digital PCR. 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. 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.