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Purpose: This study aimed to systematically review the available literature on "quality of life" (QoL) or "health-related quality of life" (HRQoL) in Turner syndrome (TS) patients and to analyze the relations among height, puberty, and the use of growth hormone (GH) and the QoL of TS patients.Methods: An electronic bibliographic search was conducted through the PubMed, Embase, Bireme, Scopus, and Web of Science databases. The main terms were "Quality of Life" and "Turner syndrome."Results: Among the databases, 559 articles were found; after the selection process, 13 studies were selected. A quality assessment was conducted, and all the studies were of high quality. Eight well-known QoL questionnaires were used, and the selected studies presented factors that may be related to the QoL of TS patients, such as height, puberty, and GH use. However, a more detailed understanding of which factors are associated with the QoL of TS patients is still needed, which may be due to the lack of specific QoL instruments involving important aspects related to TS.Conclusion: The QoL of TS patients appears to be compromised, but existing data regarding the relations among height, puberty, and GH and QoL are still controversial. Although these factors should be carefully considered in TS patients, it was not possible to determine whether they have a significant relation with the QoL of TS patients. [ABSTRACT FROM AUTHOR]

Bone mass acquisition may be compromised in survivors of childhood acute lymphocytic leukemia due to various factors, including adiposity. Fat accumulation can affect bone through the direct effect of adipokines or indirectly through the state of chronic inflammation. The aim of this study was to evaluate the effect of body composition and adipokines on bone mass in survivors of acute lymphocytic leukemia. This was a cross-sectional study of 56 survivors aged between 15 and 24 years, 44.6 % of whom received cranial radiotherapy (18-24 Gy), assessed according to body fat, lean mass, and bone mineral density (dual energy X-ray absorptiometry), computed tomography scan-derived abdominal adipose tissue, and adipokines by a multiple regression analysis. Both lumbar spine L1-L4 (trabecular bone) and total body (cortical bone) bone mineral density were positively correlated with visfatin (p < 0.050). Lean mass index was positively correlated, while waist-to-height ratio was negatively correlated with cortical bone (p < 0.010). Low bone mineral density for chronological age was detected in 5.4 % of patients in total body, and 8.9 % at the lumbar spine. In survivors of acute lymphocytic leukemia, visfatin may play an important role in the complex relationship between body composition and bone. At present, visfatin may represent a model for further study of bone metabolism, and could possibly explain the unknown mechanisms linking bone metabolism and cancer. [ABSTRACT FROM AUTHOR]

This study analyzes the body composition of young adult women with Turner syndrome (TS) either treated or not treated with recombinant human growth hormone (rhGH) and compares them with a group of healthy women. Fifty-two non-treated TS patients (23.0 ± 5.8 years), 30 treated with rhGH (21.5 ± 1.5 years), and 133 healthy young adult women (22.9 ± 3.2 years) were evaluated regarding height ( H) and weight, body mass index (BMI), brachial perimeter and tricipital cutaneous fold (fat and lean areas at the arm), sitting height (SRH = sitting height/ H × 100), leg length (leg/ H), waist and hip circumferences (waist/hip), and bioimpedance (percentages of water, lean mass, and fat mass). Age at start of rhGH therapy varied from 7.8 to 15.1 years (10.0 ± 1.3 years), duration of treatment from 2.8 to 8.2 years (3.7 ± 1.5 years), and the mean dose was 0.42 mg/kg/w (from 0.32 to 0.50 mg/kg/w). Body composition (except height) did not differ between TS groups, but there were differences when compared to the control group: weight and sitting height were lower in TS patients; and BMI, SHR, and leg/ H were higher. There was an association between all groups with regards to BMI, waist, SHR, and leg/ H, but not in percentage of fat mass. SHR was positively correlated with BMI, waist, hip, and percentage of fat mass. This sample of TS patients (with and without rhGH therapy) did not differ in BMI or body composition. However, there were differences between patients with TS patients and normal healthy women. Regardless of rhGH therapy, TS patients should be monitored, particularly for sitting height, SHR, leg length, leg/ H, and waist/hip. [ABSTRACT FROM AUTHOR]

The purpose of this study was to evaluate bone mass by phalanges ultrasound in healthy white and black schoolchildren in relationship to socioeconomic level, pubertal stage, and body composition. Included were 1,356 healthy schoolchildren aged from 6 to 11 years from different socioeconomic levels and both genders; all were placed into white and black groups. Weight, height, body mass index, fat percentage, fat mass, and lean mass were evaluated by anthropometric methods, and AD-SoS bone quantity and UBPI bone quality were evaluated using a third-generation IGEA phalanges DBM Sonic BP ultrasound. Data were compared using the Mann-Whitney, chi-squared, correlation coefficient, and analyses of multiple linear regression statistical tests with 5% significance. Black schoolchildren predominated in the low socioeconomic levels. Higher values of weight and height for black boys and girls were observed in the lean mass in relation to white children of the same gender and age. An increasing variation in the bone quantity mean was observed from 6 to 11 years of age and with pubertal stage for both genders and skin color. The white schoolchildren presented higher values of bone quantity and quality in relation to the black children. The anthropometric, gender, and socioeconomic level variables explained only 16 and 11% of the variability of bone quantity and quality, respectively. As such, the present study, carried out with healthy black and white Brazilian schoolchildren, demonstrated higher bone mass, as evaluated by ultrasound, in white than in black schoolchildren. [ABSTRACT FROM AUTHOR]

The aim of the present study was to evaluate quantitative ultrasound parameters of the finger phalanges bones (AD-SoS, amplitude-dependent speed of sound, and BTT, bone transmission time) of schoolchildren, using a DBM Sonic device (IGEA, Carpi, Italy), to obtain normative values for the Brazilian population. The sample consisted of 1,775 healthy schoolchildren, all females, aged 8-17 years. We observed a progressive increase for the variables of weight, height, body mass index (BMI), AD-SoS, and BTT with advancing age. Results for AD-SoS showed increasing and significant variation from 8 to 17 years old (1,938-2,103 m/s, an increase of 8.52%, P < 0.0001), and also for BTT (0.84-1.45 micros, an increase of 72.6%, P < 0.0001). A gradual increase in the values of AD-SoS and BTT was observed with advances in pubertal stages. There was an interaction between the variables of age, height, and pubertal stages, predicting AD-SoS (R (2) = 0.49) and BTT (R (2) = 0.53). The study showed that AD-SoS and BTT, evaluated by means of bone ultrasonometry of the phalanges in females, increase gradually with age, being more evident during puberty, probably as a reflex of the structural organization of bone growth and development, or changes in the content of the bone tissue. [ABSTRACT FROM AUTHOR]

Mutations of the steroid 5α-reductase type 2 ( SRD5A2) gene in 46,XY subjects cause masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In this study, sequence abnormalities of the SRD5A2 gene were assessed by polymerase chain reaction with specific primers and automated sequencing analysis in DNA samples from 20 patients with suspected steroid 5α-reductase type 2 deficiency from 18 Brazilian families. Eleven subjects presented SRD5A2 homozygous single-base mutations (two first cousins and four unrelated patients with G183S, two with R246W, one with del642T, one with G196S, and one with 217_218insC plus the A49T variant in heterozygosis), whereas four were compound heterozygotes (one with Q126R/IVS3+1G>A, one with Q126R/del418T, and two brothers with Q126R/G158R). Three patients were heterozygous for A207D, G196S, and R266W substitutions. The V89L polymorphism was found in heterozygosis in one of them (with A207D) and in one case with an otherwise normal gene sequence. The A49T variant was also detected in heterozygosis in the second case without other sequencing abnormalities. Four patients harbor yet non-described SRD5A2 gene mutations: a single nucleotide deletion (del642T), a G158R amino acid substitution, a splice junction mutation (IVS3+1G>A), and the insertion of a cytosine (217_218insC) occurring at a CCCC motif. This is the first report of a single-nucleotide insertion in the coding sequence of the SRD5A2 gene. In addition to these new mutations, this investigation reveals the prevalence of G183S substitution among a subset of African–Brazilian patients and presents evidences of the recurrence of already known mutations. [ABSTRACT FROM AUTHOR]

Unlabelled: About 50% of intersex cases are due to male pseudohermaphroditism, and of these cases, 50% are not clarified aetiologically. The association of idiopathic male pseudohermaphroditism and prenatal growth retardation has been recently reported. The aim of this study was to verify whether there was a difference in weight and/or length at birth between idiopathic and non-idiopathic male pseudohermaphroditism patients. A total of 70 patients with male pseudohermaphroditism were recruited; 35 non-idiopathic and 35 idiopathic. Birth weight and length were converted to z scores, and the severity of genital ambiguity was classified according to Prader grades: less virilized (Prader 1 to 3) and more virilized (Prader 4 or 5). Data were analysed using a Mann-Whitney test, odds ratio and logistic regression analysis. Birth weight (P = 0.028) and length (P = 0.01) z scores were lower in the idiopathic male pseudohermaphroditism group compared to the non-idiopathic group and were also significantly decreased among the less virilized patients, both in the sample as a whole (weight z score, P = 0.002; length z score, P = 0.0008) and in the group of idiopathic patients (weight z score, P = 0.013; length z score, P = 0.007). According to logistic regression analysis, only birth length z score significantly predicted the severity of the genital ambiguity in patients with idiopathic male pseudohermaphroditism ( P = 0.0007).Conclusion: There is an association between prenatal growth retardation and male pseudohermaphroditism which may be due to genetic factors not clarified yet or to environmental factors which act early in gestation. [ABSTRACT FROM AUTHOR]