The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the differential diagnosis of DSD.
46,XY DSD
biochemical diagnosis
diagnostic algorithm
differences/disorders of sex development (DSD)
genetic diagnosis
Journal
Advances in laboratory medicine
ISSN: 2628-491X
Titre abrégé: Adv Lab Med
Pays: Germany
ID NLM: 9918284273306676
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
received:
14
12
2020
accepted:
20
02
2021
medline:
5
7
2021
pubmed:
5
7
2021
entrez:
26
6
2023
Statut:
epublish
Résumé
46,XY differences/disorders of sex development (DSD) involve an abnormal gonadal and/or genital (external and/or internal) development caused by lack or incomplete intrauterine virilization, with or without the presence of Müllerian ducts remnants. Useful biochemical markers for differential diagnosis of 46,XY DSD include hypothalamic-pituitary-gonadal hormones such as luteinizing and follicle-stimulating hormones (LH and FSH; in baseline or after LHRH stimulation conditions), the anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), adrenal and gonadal steroid hormones (including cortisol, aldosterone, testosterone and their precursors, dihydrotestosterone and estradiol) and the pituitary ACTH hormone. Steroid hormones are measured at baseline or after stimulation with ACTH (adrenal hormones) and/or with HCG (gonadal hormones). Different patterns of hormone profiles depend on the etiology and the severity of the underlying disorder and the age of the patient at diagnosis. Molecular diagnosis includes detection of gene dosage or copy number variations, analysis of candidate genes or high-throughput DNA sequencing of panels of candidate genes or the whole exome or genome. Differential diagnosis of 46,XX or 46,XY DSD requires a multidisciplinary approach, including patient history and clinical, morphological, imaging, biochemical and genetic data. We propose a diagnostic algorithm suitable for a newborn with DSD that focuses mainly on biochemical and genetic data.
Identifiants
pubmed: 37360892
doi: 10.1515/almed-2021-0043
pii: almed-2021-0043
pmc: PMC10197773
doi:
Types de publication
Journal Article
Review
Langues
eng
eng
Pagination
494-515Informations de copyright
© 2021 Maria Luisa Granada and Laura Audí, published by De Gruyter, Berlin/Boston.
Déclaration de conflit d'intérêts
Competing interests: Authors state no conflict of interest.
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