Co-occurrence of Noonan and Cardio-facio-cutaneous syndrome features in a patient with KRAS variant

We report the case of a 3-year-old girl, who is the third child of nonconsanguineous parents with short stature, hypertrophic cardiomyopathy and mild dysmorphic features; all suggestive of Noonan syndrome. In addition, the patient presents with feeding difficulties, deep palmar and plantar creases, sparse hair, and delayed psychomotor and language development, all characteristics frequently observed in Cardio-facio-cutaneous syndrome. Molecular analysis of the Ras/MAPK pathway genes using high resolution melting curve analysis and gene sequencing revealed a de novo KRAS amino acid substitution of leucine to tryptophan at codon 53 (p.L53W). This substitution was recently described in an Iranian patient with Noonan syndrome. The findings described in the present report expand the phenotypic heterogeneity observed in RASopathy patients harbouring a KRAS substitution, and advocate for the inclusion of genes with low mutational frequency in genetic screening protocols for Noonan syndrome and other RASophaties

Ideações e tentativas de suicídio em adolescentes com práticas sexuais hetero e homoeróticas

Esta pesquisa, que teve como população-alvo adolescentes com idade entre 12 e 20 anos, residentes em três municípios do interior Paulista, buscou conhecer as associações entre orientação sexual e ideações e tentativas de suicídio. Corroborando com as pesquisas internacionais, evidenciou-se que os não heterossexuais têm mais chances de pensarem e tentarem suicídio, comparativamente aos heterossexuais. Todavia, encontrou-se que, dentre o grupo de adolescentes que se assumiram não heterossexuais, os que estão mais vulneráveis são aqueles que se autodefiniram bissexuais e "outros", os quais constituem o grupo de pessoas menos assumidas, dentre os não heterossexuais. Do mesmo modo, constatou-se que os respondentes apresentam diversas opiniões e valores homofóbicos, sexistas e heterocentrados, o que revela ser o espaço escolar, onde se encontram esses jovens não heterossexuais, bastante carregado de posicionamentos discursivos discriminatórios. Conclui-se que a questão do suicídio é uma problemática de saúde pública e que a população de jovens não heterossexuais necessita de abordagens específicas para a prevenção e de atenção relativas a essa conduta.This survey, which had as the target population adolescents aged between 12 and 20 years living in three municipalities in São Paulo, sought to investigate the associations between sexual orientation and ideation and suicide attempts. Confirming international research findings, it is showed that non-heterosexuals are more likely to attempt and think about suicide, compared to heterosexuals. However, we found that among the group of teenagers who assumed to be non-heterosexuals, the most vulnerable are those who define themselves as bisexual and "other", which constitute the group of people less assumed, among non-heterosexuals. Similarly, it was found that the respondents have different homophobic, sexist and heterocentric opinions and values, which turn out to be the school environment, where these young non-heterosexual study, loaded with enough discriminatory discursive positions. We conclude that the issue of suicide is a public health problem and that the population of young non-heterosexual needs specific approaches for prevention and care in respect to this conduct

Puberty and ovarian function in girls with type 1 diabetes mellitus

Insulin is well known for its effects on carbohydrate metabolism, but this hormone also plays an important role in regulating ovarian function. Granulosa, theca and stromal ovarian cells may be affected by insulin deficiency or excess, which may be present in women with type 1 diabetes mellitus (T1D). Recent publications have shown that in spite of intensive insulin therapy, some delay in the age of thelarche, pubarche and menarche is still observed in girls with T1D. In addition, ovarian hyperandrogenism may be observed during late adolescence and an increased prevalence of hirsutism and polycystic ovarian syndrome (PCOS) has been described in adult women with T1D. These endocrine abnormalities may be related to nonphysiologic insulin replacement therapy and to hyperglycemia. This paper reviews the pubertal development and the clinical reproductive abnormalities observed in girls with type 1 diabetes mellitus, and shows that several significant clinical problems, such as pubertal del

Optimizing growth hormone therapy during puberty

During puberty, growth hormone (GH)-deficient children may experience difficulties achieving an appropriate pubertal growth spurt. We review the complex hormonal interactions which occur during puberty. At least two therapeutic strategies have been developed to optimize GH therapy during puberty. In the first strategy, the GH dose administered per kilogram of body weight is increased during puberty, in an attempt to mimic the physiological increase of GH which occurs during puberty. In the second strategy, luteinizing hormone-releasing hormone (LHRH) analogs are administered concomitantly with GH with the aim of delaying epiphyseal fusion. The efficacy of these strategies to increase final height has not previously been clearly demonstrated. © 1997 S. Karger AG, Basel

A rational approach to the diagnosis of polycystic ovarian syndrome during adolescence Uma abordagem racional do diagnóstico da síndrome dos ovários policísticos na adolescência

Polycystic ovarian syndrome (PCOS) is a lifelong disorder characterized by hyperandrogenism and ovulatory dysfunction, with a wide spectrum of clinical symptoms and signs. Three different sets of diagnostic criteria have been established in order to define this disease in adult women, but there is controversy regarding the use of these criteria in adolescence. During puberty, the adult criteria for ovulatory dysfunction does not seem applicable, because an irregular menstrual pattern and a decreased ovulatory rate is a physiologic event during this period of life. Also, a higher prevalence of polycystic ovarian morphology (PCOM) may be observed during this period, so PCOM is not a useful criterion to define PCOS in young women. These fn-dings suggest that a key factor to diagnose to PCOS during adolescence is hyperandrogenism. In addition, since PCOM is not clearly associated with hyperandrogenism during this period of life, the term "polycystic ovarian syndrome" during adolescence cr