Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series
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...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Brazilian Society of Endocrinology and Metabolism
2025-05-01
|
| Series: | Archives of Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000201109&lng=en&tlng=en |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849325784902139904 |
|---|---|
| author | Aline Guimarães Faria Luciana R. Montenegro Alexander Augusto Lima Jorge Regina Matsunaga Martin Maria Candida Barisson Villares Fragoso Flavia R. Tinano Carlos E. Seraphim Ana Pinheiro Machado Canton Larissa G. Gomes Gabriel A. Martos-Moreno Irene Tarjuelo García Atilano Carcavilla Mireia Tirado-Capistros Nadja Cristhina Souza-Pinto Jesús Argente Ana Claudia Latronico Berenice Bilharinho Mendonca Vinicius Nahime Brito |
| author_facet | Aline Guimarães Faria Luciana R. Montenegro Alexander Augusto Lima Jorge Regina Matsunaga Martin Maria Candida Barisson Villares Fragoso Flavia R. Tinano Carlos E. Seraphim Ana Pinheiro Machado Canton Larissa G. Gomes Gabriel A. Martos-Moreno Irene Tarjuelo García Atilano Carcavilla Mireia Tirado-Capistros Nadja Cristhina Souza-Pinto Jesús Argente Ana Claudia Latronico Berenice Bilharinho Mendonca Vinicius Nahime Brito |
| author_sort | Aline Guimarães Faria |
| collection | DOAJ |
| description | 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 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 |
| format | Article |
| id | doaj-art-0e359a7da64d4956bc7efd2b2734fad5 |
| institution | Kabale University |
| issn | 2359-4292 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Brazilian Society of Endocrinology and Metabolism |
| record_format | Article |
| series | Archives of Endocrinology and Metabolism |
| spelling | doaj-art-0e359a7da64d4956bc7efd2b2734fad52025-08-20T03:48:19ZengBrazilian Society of Endocrinology and MetabolismArchives of Endocrinology and Metabolism2359-42922025-05-0169210.20945/2359-4292-2024-0459Peripheral precocious puberty in girls with McCune-Albright syndrome: a case seriesAline Guimarães Fariahttps://orcid.org/0000-0001-7209-4526Luciana R. Montenegrohttps://orcid.org/0000-0002-8401-7613Alexander Augusto Lima Jorgehttps://orcid.org/0000-0003-2567-7360Regina Matsunaga Martinhttps://orcid.org/0000-0002-5943-7122Maria Candida Barisson Villares Fragosohttps://orcid.org/0000-0001-6150-1915Flavia R. Tinanohttps://orcid.org/0000-0001-8547-6507Carlos E. Seraphimhttps://orcid.org/0000-0002-4890-9470Ana Pinheiro Machado Cantonhttps://orcid.org/0000-0001-8662-5412Larissa G. Gomeshttps://orcid.org/0000-0002-0902-0142Gabriel A. Martos-Morenohttps://orcid.org/0000-0001-5524-2646Irene Tarjuelo Garcíahttps://orcid.org/0009-0003-7473-8454Atilano Carcavillahttps://orcid.org/0000-0003-1735-0237Mireia Tirado-Capistroshttps://orcid.org/0000-0001-9623-9240Nadja Cristhina Souza-Pintohttps://orcid.org/0000-0003-4206-964XJesús Argentehttps://orcid.org/0000-0001-5826-0276Ana Claudia Latronicohttps://orcid.org/0000-0001-6782-693XBerenice Bilharinho Mendoncahttps://orcid.org/0000-0003-1762-1084Vinicius Nahime Britohttps://orcid.org/0000-0003-4140-6296ABSTRACT 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 adulthoodhttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000201109&lng=en&tlng=enMcCune-Albright syndromeprecocious pubertyaromatase inhibitorstamoxifendigital droplet PCR |
| spellingShingle | Aline Guimarães Faria Luciana R. Montenegro Alexander Augusto Lima Jorge Regina Matsunaga Martin Maria Candida Barisson Villares Fragoso Flavia R. Tinano Carlos E. Seraphim Ana Pinheiro Machado Canton Larissa G. Gomes Gabriel A. Martos-Moreno Irene Tarjuelo García Atilano Carcavilla Mireia Tirado-Capistros Nadja Cristhina Souza-Pinto Jesús Argente Ana Claudia Latronico Berenice Bilharinho Mendonca Vinicius Nahime Brito Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series Archives of Endocrinology and Metabolism McCune-Albright syndrome precocious puberty aromatase inhibitors tamoxifen digital droplet PCR |
| title | Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series |
| title_full | Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series |
| title_fullStr | Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series |
| title_full_unstemmed | Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series |
| title_short | Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series |
| title_sort | peripheral precocious puberty in girls with mccune albright syndrome a case series |
| topic | McCune-Albright syndrome precocious puberty aromatase inhibitors tamoxifen digital droplet PCR |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000201109&lng=en&tlng=en |
| work_keys_str_mv | AT alineguimaraesfaria peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT lucianarmontenegro peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT alexanderaugustolimajorge peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT reginamatsunagamartin peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT mariacandidabarissonvillaresfragoso peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT flaviartinano peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT carloseseraphim peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT anapinheiromachadocanton peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT larissaggomes peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT gabrielamartosmoreno peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT irenetarjuelogarcia peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT atilanocarcavilla peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT mireiatiradocapistros peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT nadjacristhinasouzapinto peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT jesusargente peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT anaclaudialatronico peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT berenicebilharinhomendonca peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries AT viniciusnahimebrito peripheralprecociouspubertyingirlswithmccunealbrightsyndromeacaseseries |