Rare forms of genetic steroidogenic defects affecting the gonads and adrenals.

Boettcher, Claudia; Flück, Christa E. (2022). Rare forms of genetic steroidogenic defects affecting the gonads and adrenals. Best practice & research. Clinical endocrinology & metabolism, 36(1), p. 101593. Elsevier 10.1016/j.beem.2021.101593

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Pathogenic variants have been found in all genes involved in the classic pathways of human adrenal and gonadal steroidogenesis. Depending on their function and severity, they cause characteristic disorders of corticosteroid and/or sex hormone deficiency, may result in atypical sex development at birth and/or puberty, and mostly lead to sexual dysfunction and infertility. Genetic disorders of steroidogenesis are all inherited in an autosomal recessive fashion. Loss of function mutations lead to typical phenotypes, while variants with partial activity may manifest with milder, non-classic, late-onset disorders that share similar phenotypes. Thus, these disorders of steroidogenesis are diagnosed by comprehensive phenotyping, steroid profiling and genetic testing using next generation sequencing techniques. Treatment comprises of steroid replacement therapies, but these are insufficient in many aspects. Therefore, studies are currently ongoing towards newer approaches such as lentiviral transmitted enzyme replacement therapy and reprogrammed stem cell-based gene therapy.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Endocrinology/Metabolic Disorders
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)

UniBE Contributor:

Böttcher, Claudia, Flück Pandey, Christa Emma

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1878-1594

Publisher:

Elsevier

Language:

English

Submitter:

Anette van Dorland

Date Deposited:

07 Dec 2021 16:00

Last Modified:

05 Dec 2022 15:55

Publisher DOI:

10.1016/j.beem.2021.101593

PubMed ID:

34711511

Uncontrolled Keywords:

adrenals disorders/differences of sexual development (DSD) genetic disorders ovary steroidogenesis testis

BORIS DOI:

10.48350/161528

URI:

https://boris.unibe.ch/id/eprint/161528

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