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Advanced Practice in Endocrinology Nursing pp 39–61Cite as

Disorders of Sex Development (DSD)

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Abstract

The diagnosis of a DSD—a disorder of sex development—whether made in infancy or as a young person—involves a full multidisciplinary team. Progress has been made in recent years with the advances of nomenclature, treatment, and psychological approaches and the disorders have been categorized into more patient-friendly terminology, leaving behind confusing and upsetting labels and stigma. These predominant DSD will be discussed in accordance with the new categories, detailing clinical presentation, management and nursing considerations in order to implement best practice. Emphasis here is placed on a fully co-operative multidisciplinary team, but also the nurses’ role, who can offer continued support and guidance to the child/young person and their families.

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Abbreviations

11-DOC:

11-deoxycortisol

17-OHP:

17 alpha-hydroxyprogesterone

21-OHD:

21-hydroxylase deficiency

5αRD:

5 alpha reductase deficiency

A4:

Androstenedione

ACTH:

Adrenocorticotropic hormone

AIS:

Androgen insensitivity syndrome

AMH:

Anti-Mullerian hormone

CAH:

Congenital adrenal hyperplasia

CAIS:

Complete androgen insensitivity syndrome

CNS:

Clinical nurse specialist

DHEA:

Dehydroepiandrosterone

DHT:

Dihydrotestosterone

DSD:

Disorder of sex development

FISH:

Fluorescence in situ hybridization

FSH:

Follicle stimulating hormone

GnRH:

Gonadotrophin releasing hormone

GP:

General practitioner

HCG:

Human chorionic Gonadotrophin

LH:

Luteinizing hormone

MDT:

Multidisciplinary team

MIS:

Mullerian-inhibiting substance

MRKH:

Mayer-Rokitansky-Küster-Hauser syndrome

MURCS:

Mullerian, renal, cervicothoracic somite abnormalities

NICU:

Neonatal intensive care unit

PAIS:

Partial androgen insensitivity syndrome

PCOS:

Polycystic ovarian syndrome

PENS:

Paediatric endocrine nurse specialist

TS:

Turner syndrome

UK:

United Kingdom

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Author information

Authors and Affiliations

  1. Department of Advanced and Integrated Practice, London South Bank University, London, UK

    Kate Davies

Authors
  1. Kate Davies
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Correspondence to Kate Davies .

Editor information

Editors and Affiliations

  1. School of Health Sciences, City, University of London, London, UK

    Sofia Llahana

  2. Department of Oncology, Skåne University Hospital, Lund, Sweden

    Cecilia Follin

  3. Northwest Pituitary Center Oregon Health and Sciences University, Portland, OR, USA

    Christine Yedinak

  4. Churchill Hospital, University of Oxford, Oxford, UK

    Ashley Grossman

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Davies, K. (2019). Disorders of Sex Development (DSD). In: Llahana, S., Follin, C., Yedinak, C., Grossman, A. (eds) Advanced Practice in Endocrinology Nursing. Springer, Cham. https://doi.org/10.1007/978-3-319-99817-6_3

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  • DOI: https://doi.org/10.1007/978-3-319-99817-6_3

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-99815-2

  • Online ISBN: 978-3-319-99817-6

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