Release Date: 2024-04-04

Neonatal Screening for Congenital Adrenal Hyperplasia

Betul Ersoy (Author)

Release Date: 2024-04-04

Congenital adrenal hyperplasia (CAH) is a group of diseases characterized by genetic defects in the enzymes involved in adrenal steroidogenesis. The most common type is 21hydroxylase (OH) deficiency. In this disease, earlier diagnosis is possible because there is a ambigius genitalia girls. However, diagnosis may be delayed in boys. In addition, salt-wasting types can be [...]

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Work TypeBook Chapter
Published inNewborn and Childhood Screening Programmes
First Page43
Last Page54
DOIhttps://doi.org/10.69860/nobel.9786053358961.3
ISBN978-605-335-896-1 (PDF)
LanguageENG
Page Count12
Copyright HolderNobel Tıp Kitabevleri
Licensehttps://nobelpub.com/publish-with-us/copyright-and-licensing

Congenital adrenal hyperplasia (CAH) is a group of diseases characterized by genetic defects in the enzymes involved in adrenal steroidogenesis. The most common type is 21hydroxylase (OH) deficiency. In this disease, earlier diagnosis is possible because there is a ambigius genitalia girls. However, diagnosis may be delayed in boys. In addition, salt-wasting types can be fatal, especially in boys, as they are difficult to recognize. 17-hydroxyprogesterone (17OHP) is an important identifier for newborns at risk for 21OH deficiency. Therefore, earlier diagnosis of the disease may be possible by measuring 17OHP in newborn babies on the first week of life. Threshold 17(OH)P values for the disease are calculated based on birth weight and gestational age. In this section, neonatal screening methods for CAH, the reasons for false negative or positive screening results, the status of countries in the world that perform this screening, and the cost-effectiveness of screening are explained.

Betul Ersoy (Author)
Professor, Celal Bayar University
https://orcid.org/0000-0003-1696-8406
3Prof. Dr. Betül Ersoy is the head of the Division of Pediatric Endocrinology and Metabolism at Celal Bayar University, Faculty of Medicine. After graduating from Ankara University Faculty of Medicine, she completed her Pediatrics specialization training at Behçet Uz Children’s Hospital. She completed her master’s degree in Pediatric Endocrinology and Metabolism at Ege University Faculty of Medicine in 1997. In 1998, she started working as an assistant professor at Celal Bayar University Faculty of Medicine. Receiving the title of associate professor in 1999, Dr. Ersoy was appointed to the position of Professor in 2005. She currently works at Celal Bayar University Faculty of Medicine.

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