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Advances in the Treatment of Sexual Precocity and Infertility
Pediatric - adolescent endocrinology and gynecology are entering a new era. Whole exome sequencing approaches with targeted gene panels have become widely available even for prenatal screening, leading to the elucidation of genetic etiologies in endocrine and gynecological diseases and opening the road for genetic precision medicine and the development of specific therapies. The transition from the end of puberty to the attainment of an adult phenotype may be a very long way - up to 10 years or even longer. Meanwhile, conventional approaches to hormone deficiencies are rapidly changing, as are the options for treatment of sexual precocity and infertility. Commercially available rLH/rFSH preparations in the form of pens - used mainly for fertility induction in women – are now being investigated in hypogonadotropic hypogonadism, aiming to a physiological replacement therapy not only at puberty, but also to the replacement of the missing mini-puberty - crucially important for fertility and the very essence of the male-sex identity itself. Furthermore, they provide an alternative to surgery especially for bilateral cryptorchidism, preserving future fertility.
Recurrent Pregnancy Loss and Endocrine Dysfunction
Recurrent pregnancy loss (RPL), defined by WHO as three or more consecutive pregnancy losses, bothers 1–5% of couples around the world, significantly impacting their partnership and quality of life. However, the causes for the occurrence of RPL are complicated and mysterious. Over the years, many factors have been described, studied, and criticized, including structural uterine abnormalities, genetic diseases, autoimmune disorders, endocrine dysfunction, and so on. Among these, endocrine factors, especially thyroid dysfunction, PCOS, insulin resistance, and hyperprolactinemia, accounts for an important part and can be easily screened and identified with simple tests. Nevertheless, there ar...
Biophysical Methods for Diagnosing Human Tissue Anomalies
Medical diagnosis of tissue anomalies, particularly cancer, is often limited by the constraints of current imaging technologies. This book introduces two approaches to address this issue: the imaging and the non-imaging methods. In the imaging category, the book unveils a pioneering technique based on radio tomosynthesis. Initially proven effective in detecting breast anomalies, this imaging method is now under evaluation for its potential in identifying brain anomalies. For non-imaging diagnostics, it delves into Fourier-transform infrared spectroscopy (FTIR), a technique known for its speed and reliability. The book demonstrates its successful application in diagnosing a range of cancers, including oral, uterine, ovarian, gastrointestinal, colorectal, and skin cancers. Furthermore, it explores its utility in predicting embryo quality and assessing pressure injuries. To augment these methods, the book employs machine learning algorithms, evaluating their efficacy in creating discriminative models for tissue anomalies.
