PRISCILA SALES BARROSO
Projetos de Pesquisa
Unidades Organizacionais
PAHC, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
5 resultados
Resultados de Busca
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conferenceObject Peripheral Precocious Puberty in Girls with Mccune-Albright Syndrome: Treatment and Outcomes(2015) BARROSO, P.; RAMOS, C.; SILVA, M.; LIMA, L.; BESSA, D.; ARNHOLD, I; MENDONCA, B.; LATRONICO, A.; BRITO, V- Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels(2018) CUNHA-SILVA, M.; BRITO, V. N.; MACEDO, D. B.; BESSA, D. S.; RAMOS, C. O.; LIMA, L. G.; BARROSO, P. S.; ARNHOLD, I. J. P.; SEGALOFF, D. L.; MENDONCA, B. B.; LATRONICO, A. C.Testotoxicosis is a rare cause of peripheral precocious puberty in boys caused by constitutively activating mutations of the LHCG receptor. Affected males usually have normal gonadotropin profiles and fertility in their adult life. Here, we described the long-term follow-up of a 24-year-old young man with severe testotoxicosis due to a de novo activating mutation in the third transmembrane helix of the LHCGR (p. Leu457Arg). This patient was treated with different medications, including medroxyprogesterone acetate, ketoconazole, cyproterone acetate and aromatase inhibitor from age 2.5 to 9.5 years. His basal and GnRH-stimulated gonadotropin levels were continually suppressed during and after medical treatment. At adulthood, extremely high serum testosterone levels (>35 nmol/L), undetectable gonadotropin levels (LH < 0.15 IU/L and FSH < 0.6 IU/L) and oligozoospermia were evidenced. Despite his suppressed FSH levels and an unfavorable spermogram, the patient fathered a healthy girl and biological paternity was confirmed through analysis of microsatellites. Spontaneous fertility in a young man with severe testotoxicosis and chronic suppression of FSH levels reinforces the key role of high intratesticular testosterone levels in human spermatogenesis.
conferenceObject Long-Term Evaluation of Patients with Testotoxicosis(2015) SILVA, M. Cunha; BRITO, V Nahime; BESSA, D.; RAMOS, C.; LIMA, L.; BARROSO, P.; ARNHOLD, I; MENDONCA, B.; LATRONICO, A.- Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort(2020) BARROSO, Priscila Sales; JORGE, Alexander Augusto Lima; LERARIO, Antonio Marcondes; MONTENEGRO, Luciana Ribeiro; VASQUES, Gabriela Andrade; AMATO, Lorena Guimaraes Lima; SILVEIRA, Leticia Ferreira Gontijo; MENDONCA, Berenice Bilharinho; LATRONICO, Ana ClaudiaIntroduction:Constitutional delay of growth and puberty (CDGP) is the most prevalent cause of delayed puberty in both sexes. Family history of delayed puberty (2 or more affected members in a family) has been evidenced in 50-75% of patients with CDGP and the inheritance is often consistent with autosomal dominant pattern, with or without complete penetrance. However, the molecular basis of CDGP is not completely understood.Objective:To characterize the clinical and genetic features of a CDGP cohort.Methods:Fifty-nine patients with CDGP (48 boys and 11 girls) underwent careful and long-term clinical evaluation. Genetic analysis was performed using a custom DNA target enrichment panel designed to capture 36 known and candidate genes implicated with pubertal development.Results:All patients had spontaneous or induced pubertal development (transient hormonal therapy) prior to 18 years of age. The mean clinical follow-up time was 46 +/- 28 months. Male predominance (81%), short stature (91%), and family history of delayed puberty (59%) were the main clinical features of this CDGP -cohort. Genetic analyses revealed 15 rare heterozygous missense variants in 15 patients with CDGP (25%) in seven different genes (IGSF10,GHSR,CHD7,SPRY4, WDR11, SEMA3A,andIL17RD).IGSF10andGHSRwere the most prevalent affected genes in this group.Conclusions:Several rare dominant variants in genes implicated with GnRH migration and metabolism were identified in a quarter of the patients with familial or sporadic CDGP, suggesting genetic heterogeneity in this frequent pediatric condition.
conferenceObject Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort(2019) BARROSO, P. S.; JORGE, A. A. L.; LERARIO, A. M.; MONTENEGRO, L. R.; LIMA-AMATO, L. R.; VASQUES, G. A.; SILVEIRA, L. F. G.; MENDONCA, B. B.; LATRONICO, A. C.