Faria Aline Guimarães, Montenegro 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, García Irene Tarjuelo, Carcavilla Atilano, Tirado-Capistros Mireia, Souza-Pinto Nadja Cristhina, Argente Jesús, Latronico Ana Claudia, Mendonca Berenice Bilharinho, Brito Vinicius Nahime
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.
Arch Endocrinol Metab. 2025 May 14;69(2):e240459. 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.
描述因McCune-Albright综合征（MAS）导致外周性性早熟（PPP）的女孩的随访情况。
评估了18名女性的数据，包括人体测量和生殖结局。通过数字PCR对外周血白细胞的DNA进行基因分析。
PPP的临床表现分别为单纯乳房早发育、乳房早发育伴阴道出血或单纯阴道出血，比例分别为44.5%、33.3%和22.2%，发病年龄较早（3.3±1.6岁）。诊断时，100%的病例基础LH水平被抑制，72.2%的病例基础FSH水平被抑制，雌二醇水平从青春期前到高水平不等。平均骨龄提前2.3±1.9岁。治疗包括醋酸甲羟孕酮、他莫昔芬、芳香化酶抑制剂和酮康唑，单独或联合使用5±2.14年，青春期得到部分或完全控制。57.1%（8/14）的患者被诊断为继发性中枢性性早熟。11名患者被诊断为纤维性发育不良，有骨痛的患者用双膦酸盐治疗。10名患者的平均成年身高为155.1±8.7厘米（-1.17 SDS）。月经初潮平均年龄为12.2±1.04岁，70%的患者报告月经周期规律，只有一名女性有生育意愿。52.9%（9/17）的患者进行了基因诊断。
PPP的药物治疗对MAS女孩有效，有助于保留成年身高潜力，患者成年后生殖功能正常。
