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Transition to Adulthood in Turner Syndrome
Turner syndrome (TS) occurs in approximately 1:2000 – 1:2500 live-born female infants. The diagnosis is based on a total or partial absence of an X chromosome. Besides the characteristic phenotype, TS is associated with multiple conditions. Leading symptoms in this syndrome are short stature and ovarian dysgenesis leading to infertility in most cases. Particular attention should be paid to congenital heart defects, which affect approximately 20–50% of girls and women with TS and are directly related to an increased mortality in this patient group. Additionally, there is an increased risk of autoimmune diseases, such as autoimmune thyroiditis and coeliac disease. The other disturbances are kidneys abnormalities, recurrent otitis leading to conductive hearing loss, vision problems, and mental health issues.
Hot Topics of Debate on Turner Syndrome: Growth, Puberty, Cardiovascular Risks, Fertility and Psychosocial Development
Turner syndrome (TS) is a relatively common chromosomal disorder affecting approximately 1 in 2000 live female births. Short stature is the most common clinical presentation of the syndrome; it is observed in 80 % to 100 % of the girls with TS. Growth is stunted to a variable degree at different phases of childhood and adolescence in TS. Although there is consensus on treating growth failure as early as possible, there is ongoing research to ameliorate final height in TS girls. The co-existence of primary ovarian failure in girls with TS further complicates the management of short stature. It remains to be determined what is the best age to begin treatment for pubertal induction and/or maint...
Endocrine Consequences of Prader-Willi Syndrome
Prader-Willi Syndrome has an estimated birth incidence of 1 in 10,000-30,000 people and affects male and females equally. The rare genetic disorder is caused by absent expression of the paternally-inherited genes on chromosome 15q11.2-q13 and presents implications on the endocrine system from early life as a result of associated hypothalamic dysfunction. Patients with Prader-Willi Syndrome experience endocrine disorders such as hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density. The features of Prader-Willi Syndrome are also consistent with those of growth hormone deficiency; patients also present with short stature and growth deceleration. Those with Prader-W...
Obesity in Childhood and Adolescence
Obesity in childhood and adolescence has reached epidemic proportions in all industrialized countries around the world. Its impact on individual lives as well as on health economics has to be recognized by physicians and the public alike. Among the most common consequences of obesity in the adolescent are hypertension, dyslipidemia, back pain and psychosocial problems. Therapeutic strategies include psychological and family therapy, lifestyle/behavior modification and nutrition education. The role of regular exercise and exercise programs is emphasized. Surgical procedures and drugs used in adult obesity are still not generally recommended for obese adolescents. This book aims to increase ph...
The Post-traumatic Theatre of Grotowski and Kantor
Despite its international influence, Polish theatre remains a mystery to many Westerners. This volume attempts to fill in current gaps in English-language scholarship by offering a historical and critical analysis of two of the most influential works of Polish theatre: Jerzy Grotowski’s ‘Akropolis’ and Tadeusz Kantor’s ‘Dead Class’. By examining each director’s representation of Auschwitz, this study provides a new understanding of how translating national trauma through the prism of performance can alter and deflect the meaning and reception of theatrical works, both inside and outside of their cultural and historical contexts.
Principles and Practice of Fertility Preservation
The specialty of fertility preservation offers patients with cancer, who are rendered infertile by chemo- and radiotherapy, the opportunity to realize their reproductive potential. This gold-standard publication defines the specialty. The full range of techniques and scientific concepts is covered in detail, and the author team includes many of the world's leading experts in the field. The book opens with introductions to fertility preservation in both cancer and non-cancer patients, followed by cancer biology, epidemiology and treatment, and reproductive biology and cryobiology. Subsequent sections cover fertility preservation strategies in males and females, including medical/surgical procedures, ART, cryopreservation and transplantation of both ovarian tissue and the whole ovary, and in-vitro follicle growth and maturation. Concluding chapters address future technologies, as well as ethical, legal and religious issues. Richly illustrated throughout, this is a key resource for all clinicians specializing in reproductive medicine, gynecology, oncology, hematology, endocrinology and infertility.
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