Clinical and laboratory diagnosis and treatment of central precocious puberty (CPP) remain challenging due to lack of standardization. The aim of this revision was to address the diagnostic and therapeutic features of CPP in Brazil based on relevant international literature and availability of the existing therapies in the country. The diagnosis of CPP is based mainly on clinical and biochemical parameters, and a period of follow-up is desirable to define the "progressive" form of sexual precocity. This occurs due to the broad spectrum of pubertal development, including isolated premature thelarche, constitutional growth and puberty acceleration, progressive and nonprogressive CPP, and early puberty. Measurement of basal and stimulated LH levels remains challenging, considering that the levels are not always in the pubertal range at baseline, short-acting GnRH is not readily available in Brazil, and the cutoff values differ according to the laboratory assay. When CPP is suspected but basal LH values are at prepubertal range, a stimulation test with short-acting or long-acting monthly GnRH is a diagnostic option. In Brazil, the treatment of choice for progressive CPP and early puberty is a long-acting GnRH analog (GnRHa) administered once a month or every 3 months. In Brazil, formulations of GnRHa (leuprorelin and triptorelin) are available and commonly administered, including 1-month depot leuprorelin 3.75 mg and 7.5 mg, 1-month depot triptorelin 3.75 mg, and 3-month depot leuprorelin 11.25 mg. Monthly or 3-month depot GnRHa are effective and safe to treat CPP. Arch Endocrinol Metab. 2016;60(2):163-72
Background:In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking.Objective:To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis.Methods:Through the International Disorders of Sex Development Registry, clinical information was gathered on young men suspected of having PAIS (n = 52) who presented before the age of 16 years and had genetic analysis of AR.Results:The median ages at presentation and at the time of the study were 1 month (range, 1 day to 16 years) and 22 years (range, 16 to 52 years), respectively. Of the cohort, 29 men (56%) had 20 different AR mutations reported. At diagnosis, the median external masculinization scores were 7 and 6 in cases with and without AR mutation, respectively (P = .9), and median current external masculinization scores were 9 and 10, respectively (P = .28). Thirty-five men (67%) required at least one surgical procedure, and those with a mutation were more likely to require multiple surgeries for hypospadias (P = .004). All cases with an AR mutation had gynecomastia, compared to 9% of those without an AR mutation. Of the six men who had a mastectomy, five (83%) had an AR mutation.Conclusions:Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation. Routine genetic analysis of AR to confirm PAIS informs long-term prognosis and management.
ResumoObjetivo: Verificar o efeito da atividade física programada na escola sobre a composição corporal em escolares adolescentes durante 1 ano letivo.Métodos: Amostra foi composta por 383 alunos, divididos em dois grupos: caso com 186 (96 meninos e 90 meninas) e controle com 197 (108 meninos e 89 meninas), com idade entre 10 e 15 anos. Trata-se de estudo de intervenção com pré e pós-teste, no qual o grupo caso foi submetido a atividade física programada e o grupo-controle a aulas convencionais de educação física escolar. A composição corporal foi avaliada por medidas antropométricas e cálculos de índice de massa corporal, percentual de gordura e massas gorda e magra.Resultados: O grupo caso apresentou estabilidade na prega cutânea subescapular, índice de massa corporal, percentual de gordura e na massa gorda; redução significativa na prega cutânea triciptal, perímetro do abdome nas meninas e aumento significativo dos perímetros do braço, cintura e panturrilha e da massa magra. No grupo-controle houve aumento do índice de massa corporal, prega cutânea triciptal, perímetro do abdome e da massa gorda nas meninas. O grupo caso apresentou diminuição significativa na proporção de sobrepesos e obesos no pós em relação ao pré-teste, o mesmo não ocorrendo no grupo-controle. Conclusão:A atividade física programada resultou em melhoria e manutenção nas variáveis da composição corporal e redução da frequência de sobrepeso e obesidade no grupo que sofreu intervenção.J Pediatr (Rio J). 2009;85(1):28-34: Atividade motora, saúde escolar, composição corporal, obesidade, sobrepeso. AbstractObjective: To verify the influence of programmed physical activity on body composition among adolescent students during 1 school year. Methods:The sample included 383 students (age range: 10 to 15 years) separated into two groups: 186 cases (96 male and 90 female) and 197 controls (108 male and 89 female). This was an intervention study with pre-and post-test assessments in which interventions consisted of programmed physical activity; the control group had conventional school physical education. Body composition was assessed by anthropometric measurements, body mass index (BMI), body fat percentage and fat and lean body mass. Results:In the case group, subscapular skinfold thickness, BMI, body fat percentage and fat body mass remained stable; there were significant reductions in tricipital skinfold thickness and in abdominal perimeter among girls and significant increases in arm, waist and calf perimeters and in lean body mass. In the control group, there were significant increases in BMI, tricipital skinfold thickness, abdominal perimeter and fat body mass among girls. At post-test, overweight and obesity significantly decreased among case group subjects, but not among controls. Conclusion:Programmed physical activity resulted in improvement or maintenance of body composition parameters and in reduction of overweight and obesity in the intervention group. J Pediatr (Rio J). 2009;85(1):28-34: Motor activity, school health, body composition, o...
Nuclear receptor subfamily 5 group A member 1 (NR5A1), also named steroidogenic factor 1, is an essential transcription factor that regulates a number of target genes crucial for normal reproductive physiology and endocrine function. It is encoded by NR5A1 gene and is expressed in high doses mainly in steroidogenic tissues, where it controls several steps of adrenal and gonadal development. NR5A1 mutations are associated with a wide phenotypic spectrum of disorders/differences of sex development (DSD), a group of conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Here, we reviewed 188 NR5A1 mutations from 238 cases reported in literature so far. Additionally, we report the variations p.Ser4*, p.(Cys55Ser), p.(Met78Leu), and p.Met98Glyfs*45, which have not been annotated for NR5A1 before and were identified in some of the 205 46,XY patients of our own cohort. This is the first NR5A1 mutation review which includes both 46,XX and 46,XY karyotype, with the purpose of discussing the complexity of genotype–phenotype correlations among DSD and infertile male patients and also females with primary ovarian failure.
Summary Objective In adults, hypothalamic gliosis has been documented using quantitative T2 neuroimaging, whereas functional magnetic resonance imaging (fMRI) has shown a defective hypothalamic response to nutrients. No studies have yet evaluated these hypothalamic abnormalities in children with obesity. Methods Children with obesity and lean controls underwent quantitative MRI measuring T2 relaxation time, along with continuous hypothalamic fMRI acquisition to evaluate early response to glucose ingestion. Results Children with obesity (N = 11) had longer T2 relaxation times, consistent with gliosis, in the mediobasal hypothalamus (MBH) compared to controls (N = 9; P = 0.004). Moreover, there was a highly significant group*region interaction (P = 0.002), demonstrating that signs of gliosis were specific to MBH and not to reference regions. Longer T2 relaxation times correlated with measures of higher adiposity, including visceral fat percentage (P = 0.01). Mean glucose‐induced hypothalamic blood oxygen‐level dependent signal change did not differ between groups (P = 0.11). However, mean left MBH T2 relaxation time negatively correlated with glucose‐induced hypothalamic signal change (P < 0.05). Conclusion Imaging signs of hypothalamic gliosis were present in children with obesity and positively associated with more severe adiposity. Children with the strongest evidence for gliosis showed the least activation after glucose ingestion. These initial findings suggest that the hypothalamus is both structurally and functionally affected in childhood obesity.
BackgroundDisorders of sex development (DSD) is the term used for congenital conditions in which development of chromosomal, gonadal, or phenotypic sex is atypical. Nuclear receptor subfamily 5, group A, member 1 gene (NR5A1) encodes steroidogenic factor 1 (SF1), a transcription factor that is involved in gonadal development and regulates adrenal steroidogenesis. Mutations in the NR5A1 gene may lead to different 46,XX or 46,XY DSD phenotypes with or without adrenal failure. We report a Brazilian family with a novel NR5A1 mutation causing ambiguous genitalia in 46,XY affected individuals without Müllerian derivatives and apparently normal Leydig function after birth and at puberty, respectively. Their mother, who is also heterozygous for the mutation, presents evidence of primary ovarian insufficiency.Case presentationThree siblings with 46,XY DSD, ambiguous genitalia and normal testosterone production were included in the study. Molecular analyses for AR, SRD5A2 genes did not reveal any mutation. However, NR5A2 sequence analysis indicated that all three siblings were heterozygous for the p.Cys65Tyr mutation which was inherited from their mother. In silico analysis was carried out to elucidate the role of the amino acid change on the protein function. After the mutation was identified, all sibs and the mother had been reevaluated. Basal hormone concentrations were normal except that ACTH levels were slightly elevated. After 1 mcg ACTH stimulation test, only the older sib showed subnormal cortisol response.ConclusionThe p.Cys65Tyr mutation located within the second zinc finger of DNA binding domain was considered deleterious upon analysis with predictive algorithms. The identification of heterozygous individuals with this novel mutation may bring additional knowledge on structural modifications that may influence NR5A1 DNA-binding ability, and may also contribute to genotype-phenotype correlations in DSD. The slightly elevated ACTH basal levels in all three patients with 46,XY DSD and the subnormal cortisol response after 1 mcg ACTH stimulation in the older sib indicate that a long-term follow-up for adrenal function is important for these patients. Our data reinforce that NR5A1 analysis must also be performed in 46,XY DSD patients with normal testosterone levels without AR mutations.
Ten minutes can be used as an abbreviated alternative for IC measurements in healthy young adults, and values of the first 5-minute interval should be discarded.
Objective: To verify the influence of programmed physical activity on body composition among adolescent students during 1 school year. Methods:The sample included 383 students (age range: 10 to 15 years) separated into two groups: 186 cases (96 male and 90 female) and 197 controls (108 male and 89 female). This was an intervention study with pre-and post-test assessments in which interventions consisted of programmed physical activity; the control group had conventional school physical education. Body composition was assessed by anthropometric measurements, body mass index (BMI), body fat percentage and fat and lean body mass. Results:In the case group, subscapular skinfold thickness, BMI, body fat percentage and fat body mass remained stable; there were significant reductions in tricipital skinfold thickness and in abdominal perimeter among girls and significant increases in arm, waist and calf perimeters and in lean body mass. In the control group, there were significant increases in BMI, tricipital skinfold thickness, abdominal perimeter and fat body mass among girls. At post-test, overweight and obesity significantly decreased among case group subjects, but not among controls. Conclusion:Programmed physical activity resulted in improvement or maintenance of body composition parameters and in reduction of overweight and obesity in the intervention group. (Rio J). 2009;85(1):28-34: Motor activity, school health, body composition, obesity, overweight. J Pediatr
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