Publication year
2008Source
Acta Paediatrica, 97, 1, (2008), pp. 129-32ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Paediatrics - OUD tm 2017
Intensive Care
Journal title
Acta Paediatrica
Volume
vol. 97
Issue
iss. 1
Page start
p. 129
Page end
p. 32
Subject
IGMD 1: Functional imaging; IGMD 6: Hormonal regulation; IGMD 8: Mitochondrial medicine; UMCN 5.2: Endocrinology and reproductionAbstract
Persistent Mullerian Duct Syndrome (PMDS) is a rare disorder of the anti-mullerian hormone (AMH) synthesis or receptor, which due to the visual contrast of normal masculine external genitalia and female internal genitalia can raise confusion, sometimes during surgery for cryptorchidism or hernia inguinalis. For an acute and accurate analysis of such a situation a thorough knowledge of gonadal embryology is mandatory. The diagnosis is made on finding Mullerian structures in an individual with complete virilization without signs of hypocortisolism or exposition to maternal androgens during foetal life. Karyotyping and gonadal biopsy provide additional information to confirm the diagnosis. As the risk of malignant transformation is not clear, orchidopexy is advised in patients with cryptorchidism, with lifelong palpatory follow-up. In case of urologic symptoms, surgical removal of the Mullerian remnants can be considered, with careful attention for the vulnerable ductus deferens. Despite optimal treatment the prognosis regarding fertility remain uncertain.
This item appears in the following Collection(s)
- Academic publications [227942]
- Faculty of Medical Sciences [86237]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.