17β-hydroxysteroid dehydrogenase 3 deficiency (17β-HSD3) consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. Patients present female-like or with ambiguous genitalia at birth and most affected males are raised as females. Virilization in subjects with 17β-HSD3 deficiency occurs at the time of puberty and almost half change to be males. Maintenance of the testes in patients raised male is safe and recommended, except when the testes cannot be positioned inside the scrotum. The phenotype of 46,XY disorders of sex development (DSD) owing to 17β-HSD3 deficiency is extremely variable and is clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5α-reductase 2 deficiency. Laboratory diagnosis is based on elevated serum levels of androstenedione and estrone and low levels of testosterone and estradiol, resulting in elevated androstenedione:testosterone and estrone:estradiol ratios, indicating an impairment of the conversion of 17-keto into 17-hydroxysteroids. The disorder is due to homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17β-HSD3 isoenzyme. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review the reported and our own cases of 17β-HSD3 deficiency.
17β-hydroxysteroid dehydrogenase 3 deficiency (17β-HSD3) consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. Patients present female-like or with ambiguous genitalia at birth and most affected males are raised as females. Virilization in subjects with 17β-HSD3 deficiency occurs at the time of puberty and almost half change to be males. Maintenance of the testes in patients raised male is safe and recommended, except when the testes cannot be positioned inside the scrotum. The phenotype of 46,XY disorders of sex development (DSD) owing to 17β-HSD3 deficiency is extremely variable and is clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5α-reductase 2 deficiency. Laboratory diagnosis is based on elevated serum levels of androstenedione and estrone and low levels of testosterone and estradiol, resulting in elevated androstenedione:testosterone and estrone:estradiol ratios, indicating an impairment of the conversion of 17-keto into 17-hydroxysteroids. The disorder is due to homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17β-HSD3 isoenzyme. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review the reported and our own cases of 17β-HSD3 deficiency.
Introducing HEMATOPATHOLOGY, a definitive new diagnostic reference on diseases of the hematopoietic system by Dr. Elaine S. Jaffe and her fellow editors, all collaborators on the World Health Organization's classification of lymphoid and myeloid disorders. These experts provide you with today's most effective guidance in evaluating specimens from the lymph nodes, bone marrow, peripheral blood, and more, equipping you to deliver more accurate and actionable pathology reports. More than 1,100 high-quality color images mirror the findings you encounter in practice. Overcome the toughest diagnostic challenges with authoritative guidance from the world's leading experts. Make optimal use of the newest diagnostic techniques, including molecular, immunohistochemical, and genetic studies. Compare specimens to more than 1,100 high-quality color images to confirm or challenge your diagnostic interpretations. Search the full contents online and download any of the images at expertconsult.com.
The world's leading reference in hematopathology returns with this completely updated second edition. Authored by international experts in the field, it covers a broad range of hematologic disorders -- both benign and malignant -- with information on the pathogenesis, clinical and pathologic diagnosis, and treatment for each. Comprehensive in scope, it's a must-have resource for both residents and practicing pathologists alike. Authored by the chief architects of the WHO classification in neoplasms of hematopoietic and lymphoid tissue. Covers the newest diagnostic techniques, including molecular, immunohistochemical, and genetic studies. Confirm or challenge your diagnostic interpretations by comparing specimens to over 1,000 high-quality color images. Boasts detailed, practical advice from world leaders in hematopathology. Places an emphasis on pathologic diagnoses, including molecular and genetic testing. Updated with the most current WHO classifications of hematologic disease, including lymphoma and leukemia and peripheral T-cell lymphomas. Covers hot topics in hematopathology, such as the latest genetic insights into lymphoma and leukemia; the new nomenclature for myelodysplastic syndromes; new developments on the subject of Grey zone lymphoma; and much more.
Braver Leaders in Action explains why it is vital for ordinary leaders to be brave in the context of unprecedented global challenges. Exercises and practical examples from experienced leaders help to boost your awareness and understanding, ultimately increasing your potential to become a braver leader.
The past decade has brought important advances in our understanding of the brain, particularly its influence on the behavior, emotions, and personality of children and adolescents. In the tradition of its predecessors, the third edition of the Handbook of Clinical Child Neuropsychology enhances this understanding by emphasizing current best practice, up-to-date science, and emerging theoretical trends for a comprehensive review of the field. Along with the Handbook’s impressive coverage of normal development, pathology, and professional issues, brand-new chapters highlight critical topics in assessment, diagnostic, and treatment, including, The role and prevalence of brain dysfunction in ADHD, conduct disorder, the autistic spectrum, and other childhood disorders; The neuropsychology of learning disabilities; Assessment of Spanish-speaking children and youth; Using the PASS (planning, attention, simultaneous, successive) theory in neurological assessment; Forensic child neuropsychology; Interventions for pediatric coma. With singular range, timeliness, and clarity, the newly updated Handbook of Clinical Child Neuropsychology reflects and addresses the ongoing concerns of practitioners as diverse as neuropsychologists, neurologists, clinical psychologists, pediatricians, and physical and speech-language therapists.
This book is the new edition of this comprehensive guide to the medical and surgical management of kidney stones. Divided into three main sections, the text begins with discussion on the basic formation of kidney stones, followed by mineral metabolism and diseases that lead to the formation of stones, with the final section describing surgical management techniques. The second edition has been thoroughly revised and expanded with new topics including imaging methods, non invasive surgical techniques, and management in special cases such as pregnancy. This new edition also includes discussion on stones in children. With an internationally recognised author team led by US-based specialists, this 900-page text is highly illustrated with clinical photographs and diagrams. Previous edition published in 1995. Key Points Comprehensive guide to medical and surgical management of kidney stones Fully revised second edition, with many new topics Highly illustrated with clinical photographs and diagrams over 900 pages Internationally recognised, US-based author team
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