Skip to main content Skip to main navigation menu Skip to site footer
International Journal of Nutrology
Case Report
DOI: 10.54448/ijn21403
Submitted: 12-05-2021
Published: 12-06-2021

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.

Metrics

Metrics Loading ...

References

  1. Siggberg L, Olsén P, Näntö-Salonen K, Knuutila S. 19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development. Cytogenet Genome Res. 2011;132(1-2):8-15.
  2. Ishikawa A, Enomoto K, Tominaga M, Saito T, Nagai J, Furuya N, et al. Pure duplication of 19p13.3. Am J Med Genet A. 2013;161a(9):2300-4.
  3. Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, et al. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. Clin Genet. 2020;97(3):467-76.
  4. Orellana C, Roselló M, Monfort S, Mayo S, Oltra S, Martínez F. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome. Am J Med Genet A. 2015;167(7):1614-20.
  5. Ran S, Zhang L, Liu L, Feng AP, Pei YF, Han YY, et al. Gene-based genome-wide association study identified 19p13.3 for lean body mass. Sci Rep. 2017;7:45025.
  6. Novikova I, Sen P, Manzardo A, Butler MG. Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review. J Pediatr Genet. 2017;6(4):227-33.
  7. Özer E, Karaman B, Güneş N, Evliyaoğlu O, Tüysüz B. A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response. Turk J Pediatr. 2021;63(1):174-80.
  8. Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, et al. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. Eur J Hum Genet. 2015;23(12):1615-26.
  9. Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, et al. Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis. Eur J Med Genet. 2016;59(11):559-63.
  10. Gos M, Smigiel R, Kaczan T, Landowska A, Abramowicz A, Sasiadek M, et al. MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease. Am J Med Genet A. 2018;176(7):1670-4.
  11. Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B. A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med. 2010;12(8):503-11.
  12. Lybaek H, Ørstavik KH, Prescott T, Hovland R, Breilid H, Stansberg C, et al. An 8.9 Mb 19p13 duplication associated with early puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion. Eur J Hum Genet. 2009;17(7):904-10.
  13. Manzoor H, Brüggemann N, Hussain HMJ, Bäumer T, Hinrichs F, Wajid M, et al. Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders. Parkinsonism Relat Disord. 2018;51:91-5.
  14. Singh V, Bala R, Chakraborty A, Rajender S, Trivedi S, Singh K. Duplications in 19p13.3 are associated with male infertility. J Assist Reprod Genet. 2019;36(10):2171-9.

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