[Hermaphroditos in Greek mythology--DSD in moderne medicine]

Oestmann, A; Mullis, P E; Stanga, Z (2009). [Hermaphroditos in Greek mythology--DSD in moderne medicine]. Praxis - schweizerische Rundschau für Medizin, 98(1), pp. 31-4. Bern: Huber

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We report a case of 34 year old woman how has been hospitalized at the age of 6 month with persistent vomitus. The vomitus was found to be caused by adrenal insufficiency with lack of all hormones of steroidobiosynthesis. The phenotypical femal child was diagnosed to have congenital lipoid adrenal hyperplasia with 46,XY DSD. 24 years later a homozygote mutation in the StAR-gene (L260P), which was first described in Switzerland, has been identified.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Endocrinology, Diabetology and Clinical Nutrition
04 Faculty of Medicine > Department of General Internal Medicine (DAIM) > Clinic of General Internal Medicine > Centre of Competence for General Internal Medicine
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Oestmann, Andreas; Mullis, Primus-Eugen and Stanga-Nodari, Zeno

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1661-8157

Publisher:

Huber

Language:

German

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 15:12

Last Modified:

01 Oct 2020 12:43

PubMed ID:

19374207

URI:

https://boris.unibe.ch/id/eprint/31852 (FactScience: 196618)

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