Vinicius N Brito
- Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalitiesVinicius Nahime Brito
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo Disciplina de Endocrinologia e Metabologia, Avenue Dr Eneas de Carvalho Aguiar, 155 2 andar Bloco 6, 05403900 Sao Paulo, Brazil
J Clin Endocrinol Metab 91:2432-6. 2006..GABA inhibitory effects on GnRH neurons are mainly mediated by GABA-A receptor alpha1-subunit...
- A single luteinizing hormone determination 2 hours after depot leuprolide is useful for therapy monitoring of gonadotropin-dependent precocious puberty in girlsVinicius N Brito
Hospital das Clínicas Faculdade de Medicina da Universidade de Sao Paulo, Disciplina de Endocrinologia e Metabologia, Avenue Dr Eneas de Carvalho Aguiar, 155 2 degrees andar Bloco 6, 05403900, Sao Paulo SP, Brazil
J Clin Endocrinol Metab 89:4338-42. 2004..6 IU/liter 2 h after depot leuprolide. The latter measurement may replace the classical GnRH test as a reliable and convenient tool for monitoring therapy in female gonadotropin-dependent precocious puberty...
- Factors determining normal adult height in girls with gonadotropin-dependent precocious puberty treated with depot gonadotropin-releasing hormone analogsVinicius Nahime Brito
Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Disciplina de Endocrinologia e Metabologia, Avenida Dr Eneas de Carvalho Aguiar, Sao Paulo, SP, Brazil
J Clin Endocrinol Metab 93:2662-9. 2008..Several factors can affect adult height (AH) of patients with gonadotropin-dependent precocious puberty (GDPP) treated with depot GnRH analogs...
- Update on the etiology, diagnosis and therapeutic management of sexual precocityVinicius Nahime Brito
Unidade de Endocrinologia do Desenvolvimento, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
Arq Bras Endocrinol Metabol 52:18-31. 2008..Here, we provide an update on the etiology, diagnosis and management of sexual precocity...
- Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasiaGiselle Hayashi
Associação de Pais e Amigos dos Excepcionais de São Paulo, Brazil
Arq Bras Endocrinol Metabol 55:632-7. 2011..To evaluate weight-adjusted strategy for levels of neonatal-17OHP in order to improve newborn screening (NBS) efficiency...
- Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disordersCintia Tusset
Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
Arq Bras Endocrinol Metabol 56:646-52. 2012..To investigate the presence of variants in the TAC3 and TACR3 genes, which encode NKB and its receptor (NK3R), respectively, in a large cohort of patients with idiopathic central pubertal disorders...
- Could the leukocyte x chromosome inactivation pattern be extrapolated to hair bulbs?Laura C Kaupert
Laboratory of Hormones and Molecular Genetics LIM 42, Division of Endocrinology, Clinics Hospital, School of Medicine, Sao Paulo University, Sao Paulo, Brazil
Horm Res Paediatr 73:238-43. 2010..In women, one of the X chromosomes is inactivated and the X chromosome inactivation (XCI) pattern varies among tissues. Previous studies of hyperandrogenic disorders only evaluated XCI in leukocytes...
- Long-term surgical outcome of masculinizing genitoplasty in large cohort of patients with disorders of sex developmentMaria Helena Palma Sircili
Endocrinology Division, Hormone and Molecular Genetics Laboratory LIM 42, Endocrinology Discipline, Hospital das Clinicas da FMUSP, Sao Paulo, Brazil
J Urol 184:1122-7. 2010..We evaluated the results of masculinizing genitoplasty in a large cohort of patients with disorders of sex development treated at a single public tertiary center...
- Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadismKarina Cocco Monteiro Freitas
Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory, Clinical Hospital, Sao Paulo University Medical School, Sao Paulo, Brazil
Fertil Steril 87:627-34. 2007..To investigate the role of mutations or polymorphisms in the NPY-Y1R gene in human idiopathic central pubertal disorders...
- A GPR54-activating mutation in a patient with central precocious pubertyMilena Gurgel Teles
Developmental Endocrinology Unit, Medical Investigation Laboratory, Clinicas Hospital, Sao Paulo University Medical School, Sao Paulo
N Engl J Med 358:709-15. 2008..In vitro studies have shown that this mutation leads to prolonged activation of intracellular signaling pathways in response to kisspeptin. The Arg386Pro mutant appears to be associated with central precocious puberty...
- Preclinical diagnosis of testotoxicosis in a boy with an activating mutation of the luteinizing hormone receptorMilena Teles
Unidade de Endocrinologia do Desenvolvimento, , , , Brasil
J Pediatr Endocrinol Metab 19:541-4. 2006..Very early diagnosis in affected families can result in prompt treatment, and reduce the deleterious consequences of premature puberty in boys with this rare monogenic disorder...