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2013 ; 11
(1
): 19-26
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Disorders of sexual differentiation: I Genetics and pathology
#MMPMID26579240
El-Sherbiny M
Arab J Urol
2013[Mar]; 11
(1
): 19-26
PMID26579240
show ga
OBJECTIVES: To provide a summary of the recent major advances in the field of
molecular genetics and understanding of psychosexual development, as these
developments have resulted in changes in terminology and classification of
disorders of sexual differentiation (DSD)/intersex; and to provide a quick and
simplified review of the basic information. METHODS: Recent publications (over
the last 10 years) were identified by a PubMed search, as were relevant previous
studies, using the keywords; 'sex chromosomes', 'psychosexual development',
'classifications', 'disorders of sexual differentiation', 'Chicago consensus',
'gonadal malignancy', 'intersex' and 'ambiguous genitalia'. RESULTS: The newly
proposed terminology and classification has eliminated some confusion for both
patient and family, as well as among health professionals. The new advances have
facilitated the categorisation of gonadal malignancy in patients with DSD into
high-, intermediate- and low-risk groups. CONCLUSIONS: The major changes in
terminology and classification of DSD should be considered as the first steps on
a long road of research effort. The current available data remain far from
sufficient. More molecular genetics studies will allow a better understanding of
the causes of each condition of DSD.