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Case Report
Published: 06-12-2021

Use of growth hormone in region 19p13.3 microduplication syndrome in girl with central early puberty: a clinical case report

UNIMAR - University of Marilia, Marilia, Sao Paulo, Brazil
UNIMAR - University of Marilia, Marilia, Sao Paulo, Brazil
UNIMAR - University of Marilia, Marilia, Sao Paulo, Brazil
UNIMAR - University of Marilia, Marilia, Sao Paulo, Brazil
UNIMAR - University of Marilia, Marilia, Sao Paulo, Brazil
UNICID - University City of Sao Paulo, Sao Paulo, Brazil
UNIMAR - University of Marilia, Marilia, Sao Paulo, Brazil
UNIMAR - University of Marilia, Marilia, Sao Paulo, Brazil / CENID - Postgraduate Program in Structural and Functional Interactions in Rehabilitation and Interdisciplinary Center for Diabetes, University of Marilia (UNIMAR), Marilia, Sao Paulo, Brazil
UNIMAR - University of Marilia, Marilia, Sao Paulo, Brazil
UNIMAR - University of Marilia, Marilia, Sao Paulo, Brazil / CENID - Postgraduate Program in Structural and Functional Interactions in Rehabilitation and Interdisciplinary Center for Diabetes, University of Marilia (UNIMAR), Marilia, Sao Paulo, Brazil
Chromosomal mutations Chromosome 19p13.3 Growth hormone Early puberty Syndrome

Abstract

Chromosomal mutations involving 19p13.3 have been described as pathogenic. clinical and phenotypic features can include, in most cases, psychomotor development delay, microcephaly, typical facial appearance, hand and foot anomalies, umbilical hernia, hypotonia, and low percentage of lean mass. The main types of mutation found on this chromosome are deletion or duplication. Short stature is often the cause of medical demand and the use of exogenous GH for patients with this syndrome is not beneficial. This article reports the case of a 5-year-old girl who sought medical help due to short stature and was diagnosed with this syndrome. Furthermore, this case study may contribute to the dissemination in the medical community about the association of this genetic mutation with the child's clinical condition, warning about this syndrome, and the possibility of the occurrence of early puberty. This study was analyzed and approved by the Research Ethics Committee (CEP) according to a substantiated opinion number 4.765.113.

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How to Cite

Haber, L. S. de A., Costanzo, L. P., Turola, A. C. de M. L., Araujo, M. R. de, Haber, R. S. de A., Mellem, C. H., Mellem, R. H. ., Chagas, E. F. B., Barbalho, S. M., & Haber, J. F. dos S. (2021). Use of growth hormone in region 19p13.3 microduplication syndrome in girl with central early puberty: a clinical case report. International Journal of Nutrology, 14(4). https://doi.org/10.54448/ijn21403