Diagnosis and management of CAH in the United Kingdom
Davies, K. (2018). Diagnosis and management of CAH in the United Kingdom. 2018 International Conference in Endocrinology. Capetown, South Africa Nov 2018
Congenital adrenal hyperplasia (CAH) is known as a group of autosomal recessive inherited conditions , with the most prevalent being 21-hydroxylase deficiency (21-OHD): the incidence in the United Kingdom is approximately 1 in every 15,000 live births. It is known internationally that males with 21-OHD usually present in the second week of life with a salt losing crisis, and females present with ambiguous genitalia at birth or in the neonatal period. This can sometimes be so severe that sex assignment can be difficult, and sometimes erroneous, and the involvement of a multi-professional multi disciplinary team is essential within a disorders of sex development (DSD) team.
The demand for paediatric advanced nursing practice education is rapidly increasing, with a focus on advanced physical assessment skills being paramount. The proposal for autonomous nursing practice within a paediatric DSD team is proposed, with the advent of a clinical diagnostic nursing pathway, in accordance with national and international DSD guidelines. This incorporates not only diagnostic procedures, but also family knowledge, support and education. It is envisaged that highlighting the advanced nursing role within the DSD team can enhance the family experience surrounding diagnosis and management.
Recent restropective diagnostic data will be discussed from a single centre, in order to compare and contrast to international data collections. Comparisons to international practice will be made with regards to CAH diagnosis, newborn screening, medical and nursing management, with reference to a case study, in the hope for a stimulated discussion in promoting the advanced nursing practice role.
|Keywords||CAH; adrenal; advanced practice; hydrocortisone|
|Accepted author manuscript|
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|Publication process dates|
|Deposited||12 Sep 2020|
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