Marlene Inacio's Books

Genetic Steroid Disorders

Chapter 3K. 46,XY DSD due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

By: Berenice B. Mendonca,Elaine M.F. Costa,Marlene Inacio,Ari A. Oliveira Junior,Regina M. Martin,Mirian Y. Nishi,Aline Z. Machado,Filomena Marino Carvalho,Francisco Denes Tibor,Sorahia Domenice

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Genetic Steroid Disorders

Chapter 3K. 46,XY DSD due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

By: Berenice B. Mendonca,Elaine M.F. Costa,Marlene Inacio,Ari A. Oliveira Junior,Regina M. Martin,Mirian Y. Nishi,Aline Z. Machado,Filomena Marino Carvalho,Francisco Denes Tibor,Sorahia Domenice

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.

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Elsevier Inc. Chapters

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ISBN 10

0128072881

ISBN 13

9780128072882

Progress in Medical Genetics

By: Marlene A. Horry

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Progress in Medical Genetics

By: Marlene A. Horry

Over the past decade, medical genetics has emerged as an important and powerful medical speciality with increasing appreciation of its role and function among the medical specialities. This emergence is related to a great extent to the progress in the Human Genome Project which promises wide ranging applications in the diagnosis, treatment and prevention of human diseases. Nevertheless, discussions about the role of genetics in preventive medicine and public health rightfully lead to ethical, legal and social concerns about general applicability of genetic testing in the population. The interpretation of the word prevention in the context of genetic diseases leads to the unavoidable discussions of genetic engineering, prenatal diagnosis and selective termination, as well as broader concerns about discrimination in health care coverage, employment and in society.

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326

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Nova Publishers

Published Date

ISBN 10

1594544891

ISBN 13

9781594544897

Lonely Planet Portugal

By: Joana Taborda,Bruce and Sena Carvalho,Clarke Maria,Henriques Daniel,Marques Sandra,Marlene,

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Lonely Planet Portugal

By: Joana Taborda,Bruce and Sena Carvalho,Clarke Maria,Henriques Daniel,Marques Sandra,Marlene,

Lonely Planet's Portugal is our most comprehensive guide that extensively covers all the country has to offer, with recommendations for both popular and lesser-known experiences. Spend an evening in one of Lisbon's many fado houses, discover stunning architecture in Porto and soak up the sun in the Algarve; all with your trusted travel companion. Inside Lonely Planet's Portugal Travel Guide: Lonely Planet's Top Picks - a visually inspiring collection of the destination's best experiences and where to have them Itineraries help you build the ultimate trip based on your personal needs and interests Local insights give you a richer, more rewarding travel experience - whether it's history, people, music, landscapes, wildlife, politics Eating and drinking - get the most out of your gastronomic experience as we reveal the regional dishes and drinks you have to try Toolkit - all of the planning tools for solo travellers, LGBTQIA+ travellers, family travellers and accessible travel Colour maps and images throughout Language - essential phrases and language tips Insider tips to save time and money and get around like a local, avoiding crowds and trouble spots Covers Lisbon, the Algarve, the Altentejo, Estremadura, Ribatejo, the Beiras, Porto, the Douro, Tras-Os-Montes, the Minho and more! eBook Features: (Best viewed on tablet devices and smartphones) Downloadable PDF and offline maps prevent roaming and data charges Effortlessly navigate and jump between maps and reviews Add notes to personalise your guidebook experience Seamlessly flip between pages Bookmarks and speedy search capabilities get you to key pages in a flash Embedded links to recommendations' websites Zoom-in maps and images Inbuilt dictionary for quick referencing About Lonely Planet: Lonely Planet, a Red Ventures Company, is the world's number one travel guidebook brand. Providing both inspiring and trustworthy information for every kind of traveller since 1973, Lonely Planet reaches hundreds of millions of travellers each year online and in print and helps them unlock amazing experiences. Visit us at lonelyplanet.com and join our community of followers on Facebook (facebook.com/lonelyplanet), Twitter (@lonelyplanet), Instagram (instagram.com/lonelyplanet), and TikTok (@lonelyplanet). 'Lonely Planet. It's on everyone's bookshelves; it's in every traveller's hands. It's on mobile phones. It's on the Internet. It's everywhere, and it's telling entire generations of people how to travel the world.' Fairfax Media (Australia)

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