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A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sociedade Brasileira de Endocrinologia e Metabologia
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522161/ https://www.ncbi.nlm.nih.gov/pubmed/27982202 http://dx.doi.org/10.1590/2359-3997000000196 |
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author | Ludwig, Natasha G. Radaeli, Rafael F. Silva, Mariana M. X. Romero, Camila M. Carrilho, Alexandre J. F. Bessa, Danielle Macedo, Delanie B. Oliveira, Maria L. Latronico, Ana Claudia Mazzuco, Tânia L. |
author_facet | Ludwig, Natasha G. Radaeli, Rafael F. Silva, Mariana M. X. Romero, Camila M. Carrilho, Alexandre J. F. Bessa, Danielle Macedo, Delanie B. Oliveira, Maria L. Latronico, Ana Claudia Mazzuco, Tânia L. |
author_sort | Ludwig, Natasha G. |
collection | PubMed |
description | Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin-stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL). The patient was then treated with gonadotropin-releasing hormone analog (GnRHa). Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS-MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically-confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS. |
format | Online Article Text |
id | pubmed-10522161 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Sociedade Brasileira de Endocrinologia e Metabologia |
record_format | MEDLINE/PubMed |
spelling | pubmed-105221612023-09-27 A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy Ludwig, Natasha G. Radaeli, Rafael F. Silva, Mariana M. X. Romero, Camila M. Carrilho, Alexandre J. F. Bessa, Danielle Macedo, Delanie B. Oliveira, Maria L. Latronico, Ana Claudia Mazzuco, Tânia L. Arch Endocrinol Metab Articles Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin-stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL). The patient was then treated with gonadotropin-releasing hormone analog (GnRHa). Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS-MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically-confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS. Sociedade Brasileira de Endocrinologia e Metabologia 2016-08-23 /pmc/articles/PMC10522161/ /pubmed/27982202 http://dx.doi.org/10.1590/2359-3997000000196 Text en https://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Articles Ludwig, Natasha G. Radaeli, Rafael F. Silva, Mariana M. X. Romero, Camila M. Carrilho, Alexandre J. F. Bessa, Danielle Macedo, Delanie B. Oliveira, Maria L. Latronico, Ana Claudia Mazzuco, Tânia L. A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy |
title | A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy |
title_full | A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy |
title_fullStr | A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy |
title_full_unstemmed | A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy |
title_short | A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy |
title_sort | boy with prader-willi syndrome: unmasking precocious puberty during growth hormone replacement therapy |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522161/ https://www.ncbi.nlm.nih.gov/pubmed/27982202 http://dx.doi.org/10.1590/2359-3997000000196 |
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