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New NR5A1 Mutations and Phenotypic Variations of Gonadal Dysgenesis
Abstract: Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a p.18DKVSG22del nonframeshift deletion in the DNA-binding domain and a familiar p.Y211Tfs*83 frameshift mutation. Functional analysis of the missense and nonframeshift mutation revealed a deleterious character with loss of DNA-binding and transactivation capacity. Both, the mutations in the DNA-binding domain, as well as the familiar frameshift mutation are associated with highly variable endocrine values and phenotypic appearance. Phenotypes vary from males with spontaneous puberty, substantial testosterone production and possible fertility to females with and without Müllerian structures and primary amenorrhea. Exome sequencing of the sibling's family revealed TBX2 as a possible modifier of gonadal development in patients with NR5A1 mutations
Diagnostics of Endocrine Function in Children and Adolescents
A multitude of new developments, not only in the rapidly advancing field of molecular genetics and steroid metabolism but in all traditional areas of pediatric endocrinology, have influenced the diagnostic approach in children and adolescents with endocrine disorders, thus warranting this 4th, revised and extended edition of 'Diagnostics of Endocrine Function in Children and Adolescents'. Several chapters have been revised completely and all have been thoroughly updated. In addition, new chapters dealing with the muscle-bone unit and bone metabolism have also been incorporated. The original format of the chapters, which are a combination of in-depth discussion of the diagnostic process, prac...
Ethics and the Endangerment of Children's Bodies
This book addresses the endangerment of children’s bodies in affluent societies. Bodily integrity is an important part of a child’s physical and mental well-being, but it can also be violated through various threats during childhood; not only affecting physical health but also causing mental damage and leading to distortions in the development of the self. The authors give an account of three areas, which present different serious dangers: (1) body and eating, (2) body and sexuality, and (3) body and violence. Through an in-depth examination of the available theoretical and empirical knowledge, as well as a thorough ethical analysis, the central injustices in the mentioned areas are identified and the agents with responsibilities towards children displayed. The authors conclude by providing invaluable insight into the necessity of an ethical basis for policies to safeguard children and their bodies.
Gender
This bestselling text presents research about gender and helps students think critically about the differences between research findings and gender stereotypes. It examines the biology and social context in which women and men express gendered behaviors. Defining gender as the behaviors and attitudes that relate to (but are not entirely congruent with) biological sex, the book focuses on research and scholarship to provide the material for a critical review and an overall picture of gender from a psychological perspective. To highlight how research findings can relate to people's lives, the book supplements the review of scholarly research with personal, narrative accounts of gender-relevant aspects of people's lives. To emphasize the cross-cultural perspective of gender, the book including a section on diversity in most chapters but also weaves diversity issues throughout the text. The personal narrative and diversity highlights help to balance the research-based scholarship with the personal experience of gender.
Pädiatrische Endokrinologie und Diabetologie
Seit Langem die erste Neuerscheinung zum Thema in deutscher Sprache, vereint das Werk die Subdisziplinen pädiatrische Endokrinologie und Diabetologie. Zwei Fachgebiete, die, trotz aller Eigenständigkeit, alleine schon durch die Weiterbildungsordnung zusammenwachsen. Die Autoren legen bei der Darstellung der Grundlagen sowie sämtlicher Krankheitsbilder großen Wert auf Verständlichkeit und Praxistauglichkeit. Die Herausgeber haben ein hochkarätiges Autorenteam versammelt und bürgen für Aktualität, Qualität und verlässliche Informationen.
Preacher Woman
"When people are committed to gender equality, what gets in their way of achieving it? Why do well-intentioned people reinforce sexist outcomes? Why does dissonance persist between organizational actors' good intentions of equality and sexist outcomes? This book provides answers to these questions by applying the critical lens of gendered organizations to moderate-liberal congregations that separated from their mainline denomination in support of women's equal leadership yet remain predominately male in positions of authority. This critical methodological study investigates congregations affiliated with the Cooperative Baptist Fellowship (CBF) with some dually aligned with The Alliance of Ba...
Where the Millennials Will Take Us
Are today's young adults gender rebels or returning to tradition? In Where the Millennials Will Take Us, Barbara J. Risman reveals the diverse strategies youth use to negotiate the ongoing gender revolution. Using her theory of gender as a social structure, Risman analyzes life history interviews with a diverse set of Millennials to probe how they understand gender and how they might change it. Some are true believers that men and women are essentially different and should be so. Others are innovators, defying stereotypes and rejecting sexist ideologies and organizational practices. Perhaps new to this generation are gender rebels who reject sex categories, often refusing to present their bo...
Pädiatrie
Das bewährte Standardwerk bietet für die Weiterbildung in der Kinder- und Jugendmedizin ein breites Spektrum an Störungen, Syndromen und Erkrankungen - gestrafft und auf den Punkt gebracht. Bei der Themenauswahl wurde speziell auf die Relevanz für die tägliche Praxis geachtet, chirurgische Aspekte sind in die Kapitel integriert. Eilige Leser finden sich schnell zurecht dank der einheitlichen und klaren Gliederung und erhalten konkrete Empfehlungen für Diagnostik und Therapie. Essenzielle Informationen sind auf einen Blick erkennbar.
The Science on Women and Science
In 2007, the National Academy of Sciences (NAS) released Beyond Bias and Barriers: Fulfilling the Promise of Women in Academic Science and Engineering, an influential study suggesting that women face a hostile environment in the laboratory. The NAS report dismissed the possibi...
