Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome.

Turner syndrome (TS) is caused by a complete or partial absence of an X or Y chromosome, including chromosomal mosaicism, affecting 1 in 2500 female live births. Sister chromatid exchange (SCE) is used as a sensitive indicator of spontaneous chromosome instability. Cells from mosaic patients constitute useful material for SCE evaluations as they grow under the influence of the same genetic background and endogenous and exogenous factors.

Body composition, but not insulin resistance, influences postprandial lipemia in patients with Turner's syndrome.

Objective: The aim of the present study was to examine the influence of body composition and insulin resistance on the magnitude of postprandial lipemia in patients with Turner's syndrome receiving oral versus transdermal estrogen replacement.

Methods: Twenty-five patients with Turner's syndrome receiving oral or transdermal estrogen replacement were evaluated for body mass index, waist-to-hip and waist-to-height ratios, fasting glycemia, insulin, body composition (dual-energy X-ray absorptiometry), and postprandial lipid metabolism. For statistical analysis, we used parametric tests to compare numeric variables between the two subgroups.

Anesthetic management of Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy (CRS/HIPEC): The importance of hydro-electrolytic and acid-basic control.

Justification And Objectives: Patients affected by gynecological or gastrointestinal tract neoplasms that evolve to peritoneal carcinomatosis experience a significant drop in their quality of life, high morbidity and short survival times with currently available chemotherapeutic schemes. The surgical treatment based on cytoreduction and the employment of hyperthermic intraperitoneal chemotherapy in the intra-operative period is a true challenge to anesthesiologist.

Case Report: A 67 years old patient diagnosed with mucinous adenocarcinoma of the Appendix associated with mucinous carcinomatosis, was submitted to cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC), under general anesthesia and epidural block.

Effect of chromium supplementation on the glucose homeostasis and anthropometry of type 2 diabetic patients: Double blind, randomized clinical trial: Chromium, glucose homeostasis and anthropometry.

Objective: To evaluate the effect of chromium supplementation on the glucose homeostasis and anthropometry of type 2 diabetic patients.

Material And Methods: Fifty-six individuals with type 2 Diabetes were randomized on a double blind clinical trial into three groups: placebo (NC0), 50μg (NC50) and 200μg (NC200) of chromium nicotinate. Glucose homeostasis, anthropometry and physical activity intensity were evaluated at the beginning, at day 45 and at day 90.

Pubertal development profile in patients with Turner syndrome.

Introduction: Puberty can be divided into two independent events: adrenarche and gonadarche. In healthy children, adrenarche is followed by gonadarche, but in patients with gonadal dysgenesis there is partial or complete dissociation between these two events.

Objective: To evaluate the age and chronology of the development of secondary sexual characteristics and occurrence of these events and their relationship to the induction of puberty in patients with Turner syndrome (TS).

Chromium nicotinate has no effect on insulin sensitivity, glycemic control, and lipid profile in subjects with type 2 diabetes.

Objective: To investigate the effect of chromium nicotinate supplementation on insulin sensitivity, glycemic control, and lipid profile in subjects with type 2 diabetes.

Materials And Methods: In a double-blind clinical trial, 56 overweight individuals with type 2 diabetes were randomized into 3 groups: placebo (NC0), 50 μg (NC50), and 200 μg (NC200) of chromium as chromium nicotinate. Chromium status, sensitivity to insulin, glycemic control, and lipid profile were assessed at the beginning of the study and 45 days and 90 days after.

Turner syndrome patients' ultrasound profile.

Objective: Evaluate the uterus and ovary by ultrasonography, considering the genotype, pubertal development and hormonal levels.

Materials And Methods: Cross-sectional study of 53 (7-53 years old) patients with Turner syndrome considering pubertal development by Tanner stage, puberty induced or not and the ultrasound examination.

Results: The patients were 10 prepubertal and 43 with pubertal signs.

Leydig cell tumour in a 46,XX child with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

A 10-year-old male was referred to our institution due to short stature and bilateral cryptorchidism and reported pubic hair development and acne since the age of 4 years. Laboratory and molecular genetic tests indicated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. After treatment with prednisone, adrenal hormones normalised but testosterone remained elevated.

Endocrine diseases, perspectives and care in Turner syndrome.

Turner syndrome is a frequent chromosome disorder in clinical practice. It is characterized by short stature, gonadal dysgenesia and multisystemic involvement, responsible for a high morbidity and reduced life expectancy. The aim of the present paper is to describe the endocrinopathies and major problems at different ages, and to present suggestion for follow-up care in these patients.

Isolated premature pubarche: report of anthropometric and metabolic profile of a Brazilian cohort of girls.

Aims: Isolated premature pubarche (PP) is commonly caused by premature adrenarche (PA), and links between PA, children born small for gestational age (SGA) and insulin resistance have already been made in some populations.

Subjects And Methods: We assessed anthropometric data, pubertal landmarks and metabolic profile at diagnosis and during the study in 52 girls with the diagnosis of isolated PP from a Brazilian cohort.

Results: The prevalence of obesity (25%), dyslipidemia (63.

IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome.

Objectives. To evaluate, in children with Silver-Russell Syndrome, the response to the IGF-I and IGFBP-3 generation test and compare results to the growth response after 6 months of rhGH. Methods.

Septo-optic dysplasia.

Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. In 4 of the patients, we identified neuroimaging abnormalities of the hypothalamo-pituitary axis such as anterior pituitary hypoplasia (3/5), ectopic posterior pituitary (4/5), thin or absent stalk (3/5) and empty sella (1/5).

IGF-I, IGFBP-3 and ALS generation test in Turner syndrome.

Objectives: The pathophysiology of the short stature in girls with Turner syndrome (TS) is not well understood. The "IGF-I generation test" is used to assess the sensitivity to growth hormone. We compared the biochemical response to four days of growth hormone of TS and controls.

Insulin resistance and body composition in Turner syndrome: Effect of sequential change in the route of estrogen administration.

The aim of the present study was to examine the impact of sequential change in the route of estrogen administration on body composition and insulin resistance in patients with Turner syndrome (TS) using cyclical hormone replacement therapy (HRT) with conjugated equine estrogens (CEE) plus medroxyprogesterone acetate (MPA). We carried out a self-controlled study of nine non-obese patients with TS, with an average age of 23 +/- 4.9 years.

The correlation of the IGF-I, IGFBP-3, and ALS generation test to height velocity after 6 months of recombinant growth hormone therapy in girls with Turner syndrome.

Background/aims: Girls with Turner syndrome (TS) have short stature and benefit from growth hormone therapy (hGH). Some TS present a significant change in height velocity in response to hGH while others have only a mild increment. Our objective was to correlate the response to hGH (height velocity after 6 months of therapy) to biochemical data prior to and after the beginning of hGH to try to define a tool to predict the response to hGH.

[Congenital adrenal hyperplasia newborn screening: Rio de Janeiro experience].

Objective: To determine the 17OH progesterone (17OHP) levels in the neonatal screening for Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency (CAH-21OHD).

Casuistic And Method: The evaluation was performed using 76,360 paper filter samples, obtained from newborn screening in Rio de Janeiro from June 1992 to December 2000. The 17OHP were assayed by fluoroimmunoassay method using the blood collected onto filter paper cards.

Insulin resistance in adolescents with Down syndrome: a cross-sectional study.

Background: The prevalence of diabetes mellitus is higher in individuals with Down syndrome (DS) than in the general population; it may be due to the high prevalence of obesity presented by many of them. The aim of this study was to evaluate the insulin resistance (IR) using the HOMA (Homeostasis Model Assessment) method, in DS adolescents, describing it according to the sex, body mass index (BMI) and pubertal development.

Methods: 15 adolescents with DS (8 males and 7 females) were studied, aged 10 to 18 years, without history of disease or use of medication that could change the suggested laboratory evaluation.

Effect of puberty on the relationship between bone markers of turnover and bone mineral density in Turner's syndrome.

It has been suggested that the appropriate timing of puberty is necessary for normal bone mineral acquisition which may not be achieved amongst patients with Turner's syndrome (TS). The aim of this study was to assess bone mineral density (BMD) and bone turnover in 34 patients with TS (age range 2.2-39.

Association of Turner's syndrome and hypopituitarism: a patient report.

Turner's syndrome (TS) is associated with a wide spectrum of clinical features, such as short stature and gonadal dysgenesis. While it is a common chromosomal abnormality, the association of Turner's syndrome and hypopituitarism is an uncommon finding. We describe here a girl with concomitant pituitary insufficiency and gonadal dysgenesis.

The relationship between ovarian structure and serum insulin, insulin-like growth factor-I (IGF-I) and its binding protein (IGFBP-1 and IGFBP-3) levels in premature pubarche.

The aim of this study was to determine serum insulin, insulin-like growth factor-I (IGF-I) and its binding proteins (IGFBP-1 and IGFBP-3) levels and their relationship with androgen levels and ovarian structure in 23 girls with premature pubarche (PP). Fasting levels of testosterone, dehydroepiandrosterone (DHEA) and its sulfate (DHEAS), androstenedione (delta4A), sex hormone binding globulin (SHBG), glucose (G), insulin (I), IGF-I, IGFBP-1, IGFBP-3 were measured. Androgens or steroid hormone levels > 3 SD of normal postpubertal levels were considered as an exaggerated response to the ACTH test.