Ieda T. N. Verreschi

Mild Stunting Is Associated with Higher Susceptibility to the Effects of High Fat Diets: Studies in a Shantytown Population in São Paulo, Brazil

Previous studies by our group and others have suggested that nutritional stunting may increase the risk of obesity. To investigate mechanisms that could explain a link between stunting and obesity, a 22-mo follow-up study was conducted in two groups of shantytowns school girls (7-11 y old) in São Paulo, Brazil. One group (n = 15) had mild stunting (defined using a cutoff of -1.4 Z-scores of height-for-age) but normal weight-for-height; the control group (n = 15) had normal weight and height. Similar energy intake, dietary macronutrient composition and energy expenditure were observed in the two groups. Both groups showed comparable levels of IGF-1 that were below the normal range. A significant and positive association between baseline IGF-1 and the change in height-for-age during follow-up was found in all subjects combined (P = 0.044). A significant association was found between the baseline percentage of dietary energy supplied by fat and the gain in weight-for-height during follow-up in girls with mild stunting (P = 0.048), but not in the nonstunted control girls (P = 0.245); however, the slopes of these relationships were not significantly different. This study raises the question of whether a diet high in fat may increase the susceptibility to excess body fat gain in children who are mildly stunted. Further studies are need to explore this issue and to examine the possible etiological role of low levels of IGF-1.

FRAXA premutation associated with premature ovarian failure

A family is described in which six females in three generations experienced premature ovarian failure (POF). In three of them a FRAXA premutation was documented and the carrier status of a fourth female could be inferred, because her son had the fragile X syndrome. These findings provide further evidence for a nonrandom association between POF and the FRAXA premutation.

Detection of Hidden Y Mosaicism in Turner's Syndrome: Importance in the Prevention of Gonadoblastoma

UNLABELLED The presence of Y chromosome fragments in patients with Turners syndrome (TS) is known to increase the risk of gonadoblastoma. The investigation of Y sequences is usually performed only in the presence of marker chromosomes and therefore does not rule out the presence of hidden mosaicism in patients with 45,X TS without any marker. AIMS 1. To investigate the presence of hidden Y mosaicism in non-mosaic 45,X patients with TS, using samples from different tissues, and its association with the development of gonadoblastoma. STUDY DESIGN Twenty patients with a 45,X karyotype were studied. The SRY and DYZ3 sequences were amplified by PCR, using genomic DNA from peripheral blood, oral epithelial cells and hair roots. Prophylactic gonadectomy was offered to the Y-positive patients. RESULTS The analysis of the different tissues revealed that seven (35%) out of the 20 patients studied presented hidden chromosome Y mosaicism. Four of these patients underwent prophylactic gonadectomy, and bilateral gonadoblastoma was found in one of them. CONCLUSIONS A systematic search for hidden Y chromosome mosaicism in patients with TS and 45,X karyotype is justified by the possibility of developing gonadoblastoma.

Y‐chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y‐mosaicism

The frequency of gonadoblastoma is high in patients with Turners syndrome bearing cells with Y or partial Y‐chromosome. About 60% of patients with Turners syndrome have a 45,X karyotype. In 30% of them a Y‐sequence is disclosed by DNA analysis. To identify patients at risk of developing gonadoblastoma, a PCR based assay with SRY, ZFY and DYZ3 specific primers was carried out to detect different Y‐sequences in the DNA of peripheral lymphocytes from patients with Turners syndrome.

Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases

OBJECTIVE To determine the clinical implications of the presence of a Y chromosome in Turners syndrome patients with karyotype abnormalities. DESIGN To investigate the presence of Y-chromosome sequences in different tissue samples. SETTING Endocrinology outpatient clinic of a federal university in Brazil. PATIENT(S) Five Turners syndrome patients with karyotype abnormalities such as marker chromosomes, additional material, or ring chromosomes. INTERVENTION(S) Peripheral blood, oral epithelial cells, and hair root samples were collected. MAIN OUTCOME MEASURE(S) The SRY gene and the DYZ3 repeat region were amplified by polymerase chain reaction followed by gel electrophoresis mobility of amplified genomic DNA, and ultraviolet visualization. Prophylactic gonadectomy was offered to the Y-positive patients. RESULT(S) The analysis of the different tissues revealed that three of the five patients studied presented Y-chromosome mosaicism. These three patients underwent prophylactic gonadectomy, and in one of them, the histopathologic study of the gonads disclosed hilus cell hyperplasia and stromal luteoma with contralateral nodular hyperthecosis. CONCLUSION(S) A systematic search for Y-chromosome mosaicism in Turners syndrome patients is justified by the risk of developing gonadal tumors or androgen-producing lesions.

Changes in the fecal concentrations of cortisol and androgen metabolites in captive male jaguars (Panthera onca) in response to stress

In the present study we determined the efficacy of the measurement of fecal cortisol and androgen metabolite concentrations to monitor adrenal and testicular activity in the jaguar (Panthera onca). Three captive male jaguars were chemically restrained and electroejaculated once or twice within a period of two months. Fecal samples were collected daily for 5 days before and 5 days after the procedure and stored at -20 degrees C until extraction. Variations in the concentrations of cortisol and androgen metabolites before and after the procedure were determined by solid phase cortisol and testosterone radioimmunoassay and feces dry weight was determined by drying at 37 degrees C for 24 h under vacuum. On four occasions, fecal cortisol metabolite levels were elevated above baseline (307.8 +/- 17.5 ng/g dry feces) in the first fecal sample collected after the procedure (100 to 350% above baseline). On one occasion, we did not detect any variation. Mean (+/- SEM) fecal androgen concentration did not change after chemical restraint and electroejaculation (before: 131.1 +/- 26.7, after: 213.7 +/- 43.6 ng/g dry feces). These data show that determination of fecal cortisol and androgen metabolites can be very useful for a noninvasive assessment of animal well-being and as a complement to behavioral, physiological, and pathological studies. It can also be useful for the study of the relationship between adrenal activity and reproductive performance in the jaguar.

Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue†

We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich–Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y‐specific sequences. These analyses allowed us to characterize the Y‐derived chromosome as being an isodicentric Yp chromosome (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%).

High Degree of Discordance Between Three-Dimensional and Two-Dimensional Lumbar Spine Bone Mineral Density in Turner's Syndrome

Low bone mineral density (BMD) measured by dual-energy X-ray absorptiometry (DXA) has been described in Turners syndrome (TS). One of the error factors of DXA is short stature, a common finding in TS patients. Aimed to evaluate the influence of a low stature on BMD, we compared the two-dimensional (2D) or conventional BMD (cBMD) with three-dimensional (3D) or volumetric BMD (vBMD) in 62 females (10 to 48 yr old) with TS diagnosis in a case control study. They were compared to 102 normal females (7 to 45 yr old) grouped by age-ranges. All patients were subjected to a lumbar spine densitometry by DXA in the PA and lateral projections, obtained the cBMD and vBMD and calculated for the apparent BMD (appBMD). In TS, the mean of Z-score for cBMD was significantly lower than that for vBMD and for appBMD (-2.31 +/- 1.42; -0.64 +/- 1.55; and -1.72 +/- 1.5; respectively). Most of the patients (83.8%) had a Z-score <-1 for cBMD, whereas the majority (58.1%) had a Z-score <-1 for vBMD. Concluding, the cBMD underestimates the bone mass of the lumbar spine in patients with TS inducing to false diagnoses of bone fragility. Volumetric BMD approached the bone mass of control patients, while appBMD just partially do that.

Obesity and its association with other cardiovascular risk factors in school children in Itapetininga, Brazil

FUNDAMENTO: A escassez de dados sobre a obesidade infantil e o risco cardiovascular no Brasil. OBJETIVO: Determinar a prevalencia de hipertensao, dislipidemia, obesidade e suas correlacoes em uma amostra de escolares de Itapetininga-SP. METODOS: Corte transversal com coleta sistematizada de dados antropometricos (peso, altura, cintura, indice de massa corporal e niveis pressoricos) e dosagens de glicose, colesterol (total e fracoes), acido urico e apolipoproteina A e B, em uma amostra aleatoria, representativa de escolares da rede publica de Itapetininga-SP. Analise dos dados utilizando parâmetros populacionais das curvas do NCHS(2000), categorias de pressao arterial do NHBPEP(2004) e categorias dos niveis sericos de colesterol propostos pela AHA para criancas e adolescentes(2003). RESULTADOS: Um total de 494 criancas e adolescentes participaram do estudo. Dos participantes, 11,7% apresentaram HAS, 51% apresentaram aumento do colesterol total, 40,5% apresentaram aumento do LDL-colesterol, 8,5% apresentaram aumento dos triglicerides e 6,1% tiveram valores baixos de HDL-colesterol. As medias (±desvio padrao) do CT, HDL-colesterol, LDL-colesterol e triglicerides foram respectivamente 172,1(27,9), 48,1(10,0), 105,7(23,1) e 90,9(43,8). A obesidade e o sobrepeso foram detectados em 12,8% e 9,7% da amostra, sendo que a obesidade determinou uma maior chance de se detectar a dislipidemia e a hipertensao quando comparada com os demais grupos. CONCLUSAO: Este estudo fornece subsidios para a hipotese de uma distinta prevalencia de excesso de peso entre escolares da rede publica das regioes nordeste e sudeste, maior nesta ultima. Adicionalmente, demonstra uma associacao da obesidade com a dislipidemia e a hipertensao naquele grupo. Diante da incipiencia de dados no Brasil sobre a questao estudada, o nosso trabalho fornece dados importantes para futuras comparacoes.BACKGROUND Paucity of data on childhood obesity and cardiovascular risk in Brazil. OBJECTIVE To determine the prevalence of hypertension, dyslipidemia, obesity and their correlations in a sample of school children in Itapetininga, State of Sao Paulo, Brazil. METHODS Cross-sectional study with systematic collection of anthropometric data (weight, height, waist circumference, BMI and blood pressure levels) and determination of glucose, total cholesterol, LDL, HDL, uric acid, and apolipoproteins A and B in a random sample representative of school children from the public education system in Itapetininga, State of Sao Paulo. For data analysis, we used population parameters from the NCHS curves (2000), blood pressure categories from NHBPEP (2004), and the serum cholesterol levels proposed by the AHA for children and adolescents (2003). RESULTS A total of 494 children and adolescents participated in the study. Of these, 11.7% had HBP, 51% increased total cholesterol, 40.5% increased LDL-cholesterol, 8.5% increased triglycerides, and 6.1% low HDL-cholesterol levels. Mean (+/- standard deviation) TC, HDL-cholesterol, LDL-cholesterol and triglycerides were 172.1(27.9), 48.1(10.0), 105.7(23.1) and 90.9(43.8), respectively. Obesity and overweight were detected in 12.8% and 9.7% of the sample, respectively. Individuals of the obese group had a greater chance of presenting with dyslipidemia and hypertension in comparison with those of the other groups. CONCLUSION This study supports the hypothesis of different prevalences of excess weight among school children from the public education system of the northeastern and southeastern regions of Brazil, with higher rates in the latter. Additionally, it demonstrates an association of obesity with dyslipidemia and hypertension in that group. In light of the paucity of Brazilian data on this issue, our study provides important data for further comparisons.

Puberty and growth rate in thoroughbred fillies

We measured progesterone and estradiol levels from birth to the beginning of adult life in 10 Thoroughbred fillies from the Equilia Stud Farm in Avaré SP, Brasil. The animals were measured and weighed monthly for the determination of body development and of a possible correlation between the rate of weight and height gain and the onset of detectable sex hormone levels. Jugular blood was collected twice a week and stored at -20 degrees C until assay of progesterone by a solid phase RIA with a sensitivity of 0.32 nmol L and of estradiol by liquid phase RIA adapted to low levels (3.67 pmol L ). The fillies were born with high serum levels of both hormones, which fell to undetectable levels by the first week of life. A variation in growth rate was observed, with the highest levels occurring from birth to the 3rd month of life, followed by a reduction until 15 mo of life, when fast growth was resumed. The monthly weight gain was 1.5% when the fillies reached puberty and 5.4% during the next month, (P < 0.05, Friedman test). During this second period of accelerated growth after the beginning of progesterone production at detectable levels (above 0.318 nmol L ), the parameters of skeletal growth did not differ (P > 0.05). The month of onset of puberty was the month of lowest weight gain in the life of the fillies, and it coincided with the highest insolation period. In conclusion, horses, like all other developed vertebrates, have a double pattern of development, with the acceleration observed at puberty depending on sex steroids, which in turn coincides with the highest insolation period. Gonadal activity characterized by serum progesterone levels was low from birth to the onset of puberty. After puberty the progesterone cycles were similar to those of adult animals with a mature hypothalamic-gonadal axis.