Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency

OBJETIVO: O presente estudo teve como objetivo avaliar os genes PROP1 e HESX1 em um grupo de pacientes com displasia septo-óptica (DSO) e deficiência hormonal hipofisária (combinada - DHHC; ou deficiência isolada de GH - DGH). Onze pacientes com apresentação clínica e bioquímica consistente com DHHC, DGH ou DSO foram avaliados. SUBJECTS and METHODS: em todos os pacientes, o gene HESX1 foi analisado pelo sequenciamento direto e, nos casos de DHHC, o gene PROP1 foi também sequenciado. RESULTADOS: Um polimorfismo no gene HESX1 (1772 A > G; N125S) foi identificado em um paciente com DSO. Foram encontrados três pacientes portadores da variação alélica 27 T > C; A9A e 59 A > G; N20S no éxon 1 do gene PROP1. Mutações no gene PROP1 e HESX1 não foram identificadas nesses pacientes com DGH, DHHC e DSO esporádicos. CONCLUSÃO: Alterações genéticas em um ou diversos outros genes ou mecanismos não genéticos devem estar implicados nesse processo patogênico.

Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/ or pituitary hormone deficiency

Objective: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined – CPHD; isolated GH deficiency – GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. Subjects and methods: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. Results: A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. Conclusion: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process.

Estudo clínico e molecular de pacientes com displasia septo-ótica ou deficiência hormonal hipofisária (gene HESX1 e PROP1)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Deficiência de hormônio do crescimento após radioterapia por meduloblastoma na infância: relato de caso

A radiação do crânio para tratamento das neoplasias do sistema nervoso central na infância pode evoluir com sequelas neuroendócrinas, sendo a deficiência de hormônio do crescimento (GH) com retardo do crescimento linear, uma das mais frequentes. Relatamos o caso de menino de 10 anos com cefaléia occipital associada a vertigem, náuseas e vômitos. A tomografia do crânio demonstrou processo expansivo no hemisfério cerebelar esquerdo, que foi retirado cirurgicamente. O exame histopatológico revelou meduloblastoma e o paciente foi submetido a radioterapia crânio-espinhal. Evoluiu sem recidiva da neoplasia e sem déficits neurológicos durante 4 anos. Apresentou retardo do crescimento estatural, sendo confirmada a hipótese de deficiência de GH. Atualmente, encontra-se em uso de GH 0,1 U/kg/dia, tendo apresentado incremento de 4cm na estatura em 6 meses. O presente caso destaca a importância do acompanhamento criterioso de pacientes submetidos à radiação do crânio para tratamento oncológico na infância, visto que podem evoluir com deficiências neuroendócrinas e serem beneficiados com reposição hormonal.

Reprodução em cativeiro do jurupecê Sorubim lima (Siluriformes, Pimelodidae) por meio de indução hormonal

Sorubim lima is a migratory catfish that do not reproduce in lenthic environments such as those formed after construction of hydroelectric power plants. An alternative for conservation of the species in these environments is the stocking with fingerlings produced in captivity. The technique used to reproduce it in captivity was the induction by carp pituitary hormone, with dosage of 5 mg.kg(-1) for females (1 mg.kg(-1) in the first dose and 4 mg.kg(-1) in the second) and 3 mg.kg(-1) for males (1 mg.kg(-1) in the first dose and 2 mg.kg(-1) in the second), with an interval of 14 hours. The determination of extrusion moment of oocytes was made by monitoring the migration of nucleus from central to peripheral position. After UTA 264.5 (accumulated thermal units) the oocytes were obtained by compression of the ventral region of the female, and male were sacrificed for extraction of sperm. The eggs were kept in an incubator and the time of hatching of larvae was 370 UTA. The larvae were initially fed with plankton and showed no cannibalism. Moreover, they were not demanding about the food, accepting prepared rations after fifteenth day of life. The weight gain of larvae was very low even close to 20 mm in length (14 days), not exceeding 0.05 mg per day. After that both weight and length increased rapidly.

Influência do consumo crônico de etanol 20% na doença periodontal induzida em ratas com deficiência estrogênica

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Avaliação da exposição ao propionato de testosterona em ratas fêmeas in utero e lactação

It is known that exposure to substances in the environment can contribute to various reproductive disorders, especially if such exposure occurs during critical periods of development such as the intra-uterine and postnatal. The female reproductive system may be the target of androgens, both as a result of exposure to environmental chemicals, or by pathological conditions (polycystic ovary syndrome or congenital adrenal hyperplasia).Usually, little attention is given off in relation to the study of androgenic effects in the female reproductive axis. This study aims to evaluate the effects of exposure to androgens on the development, structure and reproductive function in rats whose mothers were exposed to testosterone propionate from gestational day 12 (DG12) after weaning - postnatal day 21 (DPN21) . For this purpose, pregnancy rats were divided into four groups: a control group that received corn oil (vehicle) and three groups receiving testosterone propionate in doses of 0.05 mg / kg / day, 0.1 mg / kg / day and 0.2 mg / kg / day, all under the same experimental conditions. The possible effects of exposure were assessed using reproductive parameters, such as a measure of anogenital distance, count areolas / nipples, age at vaginal opening and first estrus (puberty indicative installation), weight and histological evaluation of the reproductive organs ( uterus and ovaries), weight of the kidneys, liver and pituitary hormone levels, regularity of the estrous cycle, sexual behavior and fertility. Such analysis is important in understanding the effects of androgen exposure on the female genital system, especially on the reproductive potential, and processes that may involve morphofunctional changes. In these experimental conditions, it is concluded that treatment with PT caused reduction in body weight and initial masculinization in females without cubs, however, commit further sexual development

Avaliação da sensibilidade à insulina e concentração do cortisol salivar em gestantes com doença periodontal

Pós-graduação em Odontologia Preventiva e Social - FOA

Effects of physical training on serum and pituitary growth hormone contents in diabetic rats

The present study investigated the effects of moderate physical training on some of the parameters in the GH-IGF axis in experimental diabetic rats. Male Wistar rats were allocated into the following groups: sedentary control, trained control, sedentary diabetic, trained diabetic. Diabetes was induced by alloxan (32 mg/kg, b.w. iv). The physical training protocol consisted of 1 h swimming session/day, 5 days/week for 8 weeks supporting a load corresponding to 90% of maximal lactate steady state. After the experimental period, blood was collected to measure serum glucose, insulin, triglycerides, albumin, insulin-like growth factors-I (IGF-I), and growth hormone (GH). Pituitary gland was removed for GH quantification. Diabetes increased blood glucose and triglycerides and decreased insulin, IGF-I, serum and pituitary GH. Physical training decreased glucose and triglycerides, and also counteracted the reduction of serum IGF-I in diabetic rats. In conclusion, physical training recovered serum IGF-I showing no alteration of serum or pituitary GH levels.

Growth hormone mRNA expression in the pituitary of Bos indicus and Bos taurus x Bos indicus crossbred young bulls treated with recombinant bovine somatotropin

The effects of breed and of recombinant bovine somatotropin (rbST) treatment on growth hormone gene expression were studied in young bulls. The experiment was completely randomized in a [2 × 2]-factorial arrangement, using two levels of rbst (0 or 250 mg/animal/14 days), and two breed groups (Nelore and Simmental x Nelore crossbred). A CDNA encoding Bos indicus growth hormone was cloned and sequenced for use as a probe in Northern and dot blot analyses. Compared to the Bos taurus structural gene, the Bos indicus CDNA was found to begin 21 bases downstream from the transcription initiation site and had only two discrepancies (C to T at position 144-His and T to C at position 354-Phe), without changes in the polypeptide sequence. However, two amino acid substitutions were found for Bubalus spp., which belong to the same tribe. The rbst treatment did not change any of the characteristics evaluated (body and pituitary gland weights, growth hormone MRNA expression level). Crossbred animals had significantly higher body weight and heavier pituitaries than Nelore cattle. Pituitary weight was proportional to body weight in both breed groups. Growth hormone MRNA expression in the pituitary was similar (P>0.075) for both breed and hormonal treatment groups, but was 31.9% higher in the pure Nelore group, suggesting that growth hormone gene transcription regulation differs among these breeds.

Diagnosis of 5α-reductase type 2 deficiency: Contribution of anti-Müllerian hormone evaluation

Aim: To evaluate anti-Müllerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5α-reductase 2 deficiency. Patients and methods: Data from 14 patients whose age ranged from 21 days to 29 years were analyzed according to age and pubertal stage. Sexual ambiguity was rated as Prader III in 11 patients. LH, FSH, testosterone (T), dihydrotestosterone (DHT) and AMH serum levels were measured in all but two patients, who had been previously submitted to gonadectomy; T and DHT were also measured in 20 age-matched controls. Results: Gonadotropin levels were normal in all but one patient who retained gonads (six of whom had reached puberty) and T/DHT ratio was elevated in all patients when compared to controls. All prepubertal patients had AMH levels < -1 SD for age, while most pubertal patients had AMH levels compatible with pubertal stage. Conclusions: Prepubertal patients with 5α-reductase 2 deficiency have AMH values in the lower part of the normal range. These data indicate that T does not need to be converted to DHT to inhibit AMH secretion by Sertoli cells. © Freund Publishing House Ltd., London.

Cost-effectiveness comparison between pituitary down-regulation with a gonadotropin-releasing hormone agonist short regimen on alternate days and an antagonist protocol for assisted fertilization treatments

Objective: To compare cost-effectiveness between pituitary down-regulation with a GnRH agonist (GnRHa) short regimen on alternate days and GnRH antagonist (GnRHant) multidose protocol on in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) outcome. Design: Prospective, randomized. Setting: A private center. Patient(s): Patients were randomized into GnRHa (n = 48) and GnRHant (n = 48) groups. Intervention(s): GnRHa stimulation protocol: administration of triptorelin on alternate days starting on the first day of the cycle, recombinant FSH (rFSH), and recombinant hCG (rhCG) microdose. GnRHant protocol: administration of a daily dose of rFSH, cetrorelix, and rhCG microdose. Main Outcome Measure(s): ICSI outcomes and treatment costs. Result(s): A significantly lower number of patients underwent embryo transfer in the GnRHa group. Clinical pregnancy rate was significantly lower and miscarriage rate was significantly higher in the GnRHa group. It was observed a significant lower cost per cycle in the GnRHa group compared with the GnRHant group ($5,327.80 ± 387.30 vs. $5,900.40 ± 472.50). However, mean cost per pregnancy in the GnRHa was higher than in the GnRHant group ($19,671.80 ± 1,430.00 vs. $11,328.70 ± 907.20). Conclusion(s): Although the short controlled ovarian stimulation protocol with GnRHa on alternate days, rFSH, and rhCG microdose may lower the cost of an individual IVF cycle, it requires more cycles to achieve pregnancy. Clinical Trial Registration Number: NCT01468441. © 2013 by American Society for Reproductive Medicine.

Hormone profile in juvenile systemic lupus erythematosus with previous or current amenorrhea

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)