Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/12252
Title: Malformation syndromes associated with disorders of sex development.
Authors: Hutson, John M;Grover, Sonia R;O'Connell, Michele;Pennell, Samuel D
Affiliation: Department of Urology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, Australia.
Department of Gynaecology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, Australia.
Department of Endocrinology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, Australia.
Department of Surgery, Austin Hospital, Studley Park Road, Heidelberg, Melbourne, VIC 3058, Australia.
Issue Date: 10-Jun-2014
Citation: Nature Reviews. Endocrinology 2014; 10(8): 476-87
Abstract: When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia.
Internal ID Number: 24913517
URI: http://ahro.austin.org.au/austinjspui/handle/1/12252
DOI: 10.1038/nrendo.2014.83
URL: http://www.ncbi.nlm.nih.gov/pubmed/24913517
Type: Journal Article
Subjects: Animals
Cleft Palate.genetics
Denys-Drash Syndrome.genetics
Disorders of Sex Development.genetics
Esophagus.abnormalities
Female
Frasier Syndrome.genetics
Genetic Diseases, X-Linked.genetics
Genitalia.abnormalities
Gonadal Dysgenesis.genetics
Gonadal Dysgenesis, 46,XY.genetics
Humans
Hypertelorism.genetics
Hypogonadism.genetics
Hypospadias.genetics
Male
Mental Retardation, X-Linked.genetics
Turner Syndrome.genetics
WAGR Syndrome.genetics
alpha-Thalassemia.genetics
Appears in Collections:Journal articles

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