[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, Stanga, Zeno
Subjects:	600 Technology > 610 Medicine & health
ISSN:	1661-8157
Publisher:	Huber
Language:	German
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 15:12
Last Modified:	02 Mar 2023 23:23
PubMed ID:	19374207
URI:	https://boris.unibe.ch/id/eprint/31852 (FactScience: 196618)