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Growth hormone and estrogen pharmacogenetics in patients with Turner Syndrome

Grant number: 16/03318-0
Support type:Scholarships in Brazil - Post-Doctorate
Effective date (Start): October 01, 2016
Effective date (End): January 31, 2019
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Cooperation agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
Principal researcher:Alexander Augusto de Lima Jorge
Grantee:Renata da Cunha Scalco Tirapeli
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Associated research grant:13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders, AP.TEM


Turner syndrome is a disorder characterized by complete or partial absence of the second sexual chromosome and the most commonly found abnormalities are short stature and gonadal failure. Individual outcomes of recombinant human growth hormone (rhGH) and estrogen treatments are highly variable among patients. Retrospective studies demonstrated the influence of polymorphisms in growth hormone receptor (GHR), insulin-like growth factor binding protein 3 (IGFBP3) and suppressor of cytokine signaling 2 (SOCS2) genes on the effect of rhGH treatment. Regarding the estrogen therapy, the impact of estrogen receptor polymorphisms over the variability in adult height and in the development of secondary sexual characteristics has not yet been evaluated in these patients. The objectives of this study are: 1) To prospectively evaluate the impact of using individualized rhGH doses in Turner syndrome patients according to the genotyping results of the above mentioned genes; 2) To investigate the association between alpha estrogen receptor (ESR1) polymorphisms and the outcomes of estrogen therapy in Turner syndrome patients. To evaluate the effect of individualized rhGH doses, we will study the polymorphisms linked to GH action in previously untreated Turner syndrome patients before the beginning of treatment. Patients who present genotypes considered unfavorable to the outcome of rhGH treatment will receive a higher dose of rhGH (0.2UI/kg/d) and their response to treatment will be compared to the growth outcomes of patients with favorable and unfavorable genotypes previously treated with the usual fixed dose (0.15UI/kg/d). To study the effect of estrogen receptor polymorphisms over estrogen therapy outcomes we will evaluate patients receiving adult estrogen dose for a minimum period of one year. We will use as dependent variables parameters known to be linked to the outcomes of estrogen action: uterine volume, breast development, bone density and luteinizing hormone (LH) levels. These parameters will be compared among patients with different ESR1 genotypes. The results of this study may allow future individualization of both therapies, increasing their benefits and reducing their risks. (AU)

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Scientific publications (4)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
SCALCO, RENATA C.; TRARBACH, ERICKA B.; ALBUQUERQUE, EDOARDA V. A.; HOMMA, THAIS K.; INOUE-LIMA, THAIS H.; NISHI, MIRIAN Y.; MENDONCA, BERENICE B.; JORGE, ALEXANDER A. L.. ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome. ENDOCRINE CONNECTIONS, v. 8, n. 11, p. 1513-1519, . (13/03236-5, 16/03318-0)
DANTAS, NAIARA C. B.; BRAZ, ADRIANA F.; MALAQUIAS, ALEXSANDRA; LEMOS-MARINI, SOFIA; ARNHOLD, IVO J. P.; SILVEIRA, ESTER R.; ANTONINI, SONIR R.; GUERRA-JUNIOR, GIL; MENDONCA, BERENICE; JORGE, ALEXANDER; et al. Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review. Hormone Research in Paediatrics, v. 94, n. 1-2, p. 63-70, . (16/03318-0)
ALBUQUERQUE, EDOARDA V. A.; SCALCO, RENATA C.; JORGE, ALEXANDER A. L.. Diagnostic and therapeutic approach of tall stature. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 176, n. 6, p. R339-R353, . (13/03236-5, 16/03318-0)
RENATA C. SCALCO; FERNANDA T. GONÇALVES; HADASSA C. SANTOS; MARI M. S. G. CARDENA; CARLOS A. TONELLI; MARIANA F. A. FUNARI; ROSANA M. ARACAVA; ALEXANDRE C. PEREIRA; CINTIA FRIDMAN; ALEXANDER A. L. JORGE. Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect. GENETICS AND MOLECULAR BIOLOGY, v. 40, n. 2, p. 436-441, . (10/19809-6, 16/03318-0, 11/15078-0)

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