CAROLINA DE OLIVEIRA RAMOS
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
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
16 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 16
- Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations (vol 106, pg 1041, 2021)(2021) SERAPHIM, C. E.; CANTON, A. P. M.; MONTENEGRO, L.; PIOVESAN, M. R.; MACEDO, D. B.; CUNHA, M.; GUIMARAES, A.; RAMOS, C. O.; BENEDETTI, A. F. F.; LEAL, De Castro A.; GAGLIARDI, P. C.; ANTONINI, S. R.; GRYNGARTEN, M.; ARCARI, A. J.; ABREU, A. P.; KAISER, U. B.; SORIANO-GUILLEN, L.; ESCRIBANO-MUNOZ, A.; CORRIPIO, R.; I, J. Labarta; TRAVIESO-SUAREZ, L.; V, N. Ortiz-Cabrera; ARGENTE, J.; MENDONCA, B. B.; BRITO, V. N.; LATRONICO, A. C.
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, VconferenceObject Clinical and Genetic Features of Central Precocious Puberty Associated with Complex Phenotypes(2018) CANTON, Ana; BRITO, Vinicius; MONTENEGRO, Luciana; RAMOS, Carolina; MACEDO, Delanie; BESSA, Danielle; CUNHA, Marina; JORGE, Alexander; MENDONCA, Berenice; LATRONICO, Ana Claudia- 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.
- Applicability of a novel mathematical model for the prediction of adult height and age at menarche in girls with idiopathic central precocious puberty(2018) LOPES, Mateus Cavarzan; RAMOS, Carolina Oliveira; LATRONICO, Ana Claudia; MENDONCA, Berenice B.; BRITO, Vinicius N.OBJECTIVES: Unfavorable predicted adult height and psychosocial inadequacy represent parameters used to guide therapeutic intervention in girls with central precocious puberty. Gonadotropin-releasing hormone analog is the first-line treatment. The aim of this study was to compare two methods used to predict adult height and assess a validated tool for predicting the age at menarche in girls with central precocious puberty. METHODS: The predicted adult height of 48 girls with central precocious puberty was calculated at diagnosis using the Bayley-Pinneau method based on average and advanced bone age tables and compared with the predicted adult height calculated using a mathematical model. In addition, the age at spontaneous menarche was predicted using the new formulae. After Gonadotropin-releasing hormone analog treatment, the predicted adult height was calculated using only the Bayley-Pinneau tables. RESULTS: The achieved adult height was within the target height range in all treated girls with central precocious puberty. At diagnosis, the predicted adult height using the Bayley-Pinneau tables was lower than that using the mathematical model. After the Gonadotropin-releasing hormone analog treatment, the predicted adult height using the Bayley-Pinneau method with the average bone age tables was the closest to the achieved adult height. Using the formulae, the predicted age at spontaneous menarche was 10.1 +/- 0.5 yr. The Gonadotropin-releasing hormone analog treatment significantly postponed this event until 11.9 +/- 0.7 yr in these ""idiopathic"" central precocious puberty girls, highlighting the beneficial effect of this treatment. CONCLUSION: Both initial adult height prediction methods are limited and must be used with caution. The prediction of the age at spontaneous menarche represents an innovative tool that can help in clinical decisions regarding pubertal suppression.
- DLK1 Is a Novel Link Between Reproduction and Metabolism(2019) GAMES, Larissa G.; CUNHA-SILVA, Marina; CRESPO, Raiane P.; RAMOS, Carolina O.; MONTENEGRO, Luciana R.; CANTON, Ana; LEES, Melissa; SPOUDEAS, Helen; DAUBER, Andrew; MACEDO, Delanie B.; BESSA, Danielle S.; MACIEL, Gustavo A.; BARACAT, Edmund C.; JORGE, Alexander A. L.; MENDONCA, Berenice B.; BRITO, Vinicius N.; LATRONICO, Ana ClaudiaBackground: Delta-like homolog 1 (DLK1), also called preadipocyte factor 1, prevents adipocyte differentiation and has been considered a molecular gatekeeper of adipogenesis. A DLK1 complex genomic defect was identified in five women from a single family with central precocious puberty (CPP) and increased body fat percentage. Methods: We studied 60 female patients with a diagnosis of CPP or history of precocious menarche. Thirty-one of them reported a family history of precocious puberty. DLK1 DNA sequencing was performed in all patients. Serum DLK1 concentrations were measured using an ELISA assay in selected cases. Metabolic and reproductive profiles of adult women with CPP caused by DLK1 defects were compared with those of 20 women with idiopathic CPP. Results: We identified three frameshift mutations of DLK1 (p.Gly199Alafs*11, p.Va1271Cysfs*14, and p.Pro160Leufs*50) in five women from three families with CPP. Segregation analysis was consistent with the maternal imprinting of DLK1. Serum DLK1 concentrations were undetectable in three affected women. Metabolic abnormalities, such as overweight/obesity, early-onset glucose intolerance/type 2 diabetes mellitus, and hyperlipidemia, were more prevalent in women with the DLK1 mutation than in the idiopathic CPP group. Notably, the human metabolic alterations were similar to the previously described dlk1-null mice phenotype. Two sisters who carried the p.Gly199Alafs*11 mutation also exhibited polycystic ovary syndrome and infertility. Conclusions: Loss-of-function mutations of DLK1 are a definitive cause of familial CPP. The high prevalence of metabolic alterations in adult women who experienced CPP due to DLK1 defects suggests that this antiadipogenic factor represents a link between reproduction and metabolism.
- Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg)(2021) RAMOS, Carolina O.; CANTON, Ana P. M.; SERAPHIM, Carlos Eduardo; FARIA, Aline Guimaraes; TINANO, Flavia Rezende; MENDONCA, Berenice B.; LATRONICO, Ana C.; BRITO, Vinicius N.Objectives: Longer-acting gonadotropin-releasing hormone analogs (GnRHa) have been widely used for central precocious puberty (CPP) treatment. However, the followup of patients after this treatment are still scarce. Our aim was to describe anthropometric, metabolic, and reproductive follow-up of CPP patients after treatment with leuprorelin acetate 3-month depot (11.25 mg). Methods: Twenty-two female patients with idiopathic CPP were treated with leuprorelin acetate 3-month depot (11.25 mg). Their medical records were retrospectively evaluated regarding clinical, hormonal, and imaging aspects before, during, and after GnRHa treatment until adult height (AH). Results: At the diagnosis of CPP, the mean chronological age (CA) was 8.2 +/- 1.13 year, and mean bone age (BA) was 10.4 +/- 1.4 year. Mean height SDS at the start and the end of GnRHa treatment was 1.6 +/- 0.8 and 1.3 +/- 0.9, respectively. The mean duration of GnRHa treatment was 2.8 +/- 0.8 year. Mean predicted adult heights (PAH) at the start and the end of GnRH treatment was 153.2 +/- 8.6 and 164.4 +/- 7.3 cm, respectively (p<0.05). The mean AH was 163.2 +/- 6.2 cm (mean SDS: 0.1 +/- 1). All patients were within their target height (TH) range. There was a decrease in the percentage of overweight and obesity from the diagnosis until AH (39-19% p>0.05). At the AH, the insulin resistance and high LDL levels were identified in 3/17 patients (17.6%) and 2/21 patients (9.5%), respectively. The mean CA of menarche was 12.2 +/- 0.5 years. At the AH, PCOS was diagnosed in one patient (4.8%). Conclusions: Long-term anthropometric, metabolic, and reproductive follow-up of patients with CPP treated with longer-acting GnRHa revealed effectivity, safety, and favorable outcomes.
- Premature Pubarche due to Exogenous Testosterone Gel or Intense Diaper Rash Prevention Cream Use: A Case Series(2019) RAMOS, Carolina de Oliveira; MACEDO, Delanie Bulcao; BACHEGA, Tania Aparecida Sartori Sanchez; NASCIMENTO, Marilza Leal; MADUREIRA, Guiomar; LATRONICO, Ana Claudia; BRITO, Vinicius Nahime; MENDONCA, Berenice Bilharinho deBackground/Aims: Premature pubarche is associated with conditions such as virilizing congenital adrenal hyperplasia, androgen-secreting tumors, and exogenous exposure to androgen products. We describe the clinical and hormonal features of a series of children who were referred to endocrine evaluation due to premature pubarche. Methods: This is a retrospective case series study of 14 children with premature pubarche and/or virilization. Five were unintentionally exposed to testosterone gel (parental use). Nine patients were intensely exposed to diaper rash prevention creams. Clinical and laboratory data were revised. Results: Moderate to severe virilization was detected in the 5 patients (2 boys and 3 girls) who were exposed to testosterone gel. These patients had pubic hair development associated with clitoromegaly (3/3), penile enlargement (2/2), and accelerated growth (5/5). Testosterone levels were elevated in 4/5 patients associated with normal prepubertal gonadotropin levels and adrenal androgen precursors. The 9 children who were intensely exposed to diaper rash prevention creams had mild pubarche (intermediate hair) without any other clinical manifestation of pubertal development. Three of them exhibited pubic hair thinning after cream withdrawal. Conclusion: Unintentional topical androgen exposure or the intense use of diaper rash prevention cream should be ruled out in children with precocious pubarche and/or virilization signs to avoid misdiagnosis and expendable investigation.
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.- Long-Term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: Anthropometric, Metabolic, and Reproductive Aspects(2018) RAMOS, Carolina O.; LATRONICO, Ana C.; CUKIER, Priscilla; MACEDO, Delanie B.; BESSA, Danielle S.; CUNHA-SILVA, Marina; ARNHOLD, Ivo J.; MENDONCA, Berenice B.; BRITO, Vinicius N.Background: Hypothalamic hamartoma (HH) represents the commonest cause of organic central precocious puberty (CPP). Follow-up of these patients in adulthood is scarce. Objective: To describe the anthropometric, metabolic, and reproductive parameters of patients with CPP due to HH before and after treatment with gonadotropin-releasing hormone analog (GnRHa). Methods: We performed a retrospective and cross-sectional study in a single tertiary center including 14 patients (7 females) with CPP due to HH. Results: The mean duration of GnRHa treatment was 7.7 +/- 2.4 years in boys and 7.9 +/- 2.1 years in girls. GnRHa treatment was interrupted at the mean chronological age (CA) of 12.1 +/- 1.1 years in boys and 10.7 +/- 0.5 years in girls. At the last visit, the mean CA of the male and female patients was 21.5 +/- 3.2 and 24 +/- 3.9 years, respectively. Eleven of the 14 patients reached normal final height (FH) (standard deviation score -0.6 +/- 0.9 for males and -0.6 +/- 0.5 for females), all of them within the target height (TH) range. The remaining 3 patients had predicted height within the TH range. The mean body mass index and the percentage of body fat mass was significantly higher in females, with a higher prevalence of metabolic disorders. All patients presented normal gonadal function in adulthood, and 3 males fathered a child. Conclusion: All patients with CPP due to HH reached normal FH or near-FH. A higher prevalence of overweight/obesity and hypercholes-terolemia was observed in the female patients. Finally, no reproductive disorder was identified in both sexes, indicating that HH per se has no deleterious effect on the gonadotropic axis in adulthood. (c) 2017 S. Karger AG, Basel