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

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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

• Document type: Journal article
• Source: ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 69, n. 2, p. 10-pg., 2025-01-01.

Abstract

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)

• FAPESP's process: 17/04372-0 - Mitochondrial DNA: mechanisms for genome integrity maintenance and impact on disease
• Grantee: Nadja Cristhina de Souza Pinto
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 22/00719-4 - Comprehensive genetic and epigenetic investigation of patients with syndromic central precocious puberty
• Grantee: Ana Pinheiro Machado Canton
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• FAPESP's process: 17/21567-0 - Role of classic C19 and 11-oxygenated C19 steroids on androgens excess and metabolic profile of women with Polycystic Ovary Syndrome
• Grantee: Larissa Garcia Gomes
• Support Opportunities: Regular Research Grants
• FAPESP's process: 19/27631-7 - Genetic and epigenetic studies of endocrine disorders related with reproductive axis
• Grantee: Ana Claudia Latronico Xavier
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 21/12205-2 - Investigation of genetic basis of Familial Central Precocious Puberty of maternal inheritance
• Grantee: Flávia Rezende Tinano
• Support Opportunities: Scholarships in Brazil - Doctorate (Direct)