الفهرس 
SEXUAL DEVELOPMENT AND DIFFERENTIATIONOnly 14 pages are availabe for public view
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Abstract
R
ecently the term ”disorders of sexual differentiation” (DSD) was proposed which is defined as a congenital condition associated with atypical chromosomal, gonadal or anatomical sex. DSD is not a rare disorder requiring prompt investigation and early gender assignment that is logically based on a sound knowledge of normal sex determination and differentiation. The complexity of the problem requires a multidisciplinary team working together, including a pediatric urologist, pediatric endocrinologist, psychiatrist, clinical geneticist, neonatologist, gynaecologist, social workers and medical ethics for the proper management of patients with DSD.
The aim of this review is identifying the various causes of DSD, identifying the current management strategies for DSD, elucidating the importance of psychological evaluation of patients with DSD during the process of planning the management and reviewing the psychological outcomes of pediatric patients with DSD after management has been done.
According to the international consensus conference 2006, DSD has been categorized into (1) sex chromosome DSDs for example: 45X Turner and variants, 47XXY Klinefelter and variants, 45X/46XY Mixed gonadal dysgenesis, choromosomal ovotesticular DSD (46XX/46XY chimeric type). (2) 46, XY disorders of sex development (46, XYDSD) for example: disorders of gonadal (testicular) development, disorders in androgen synthesis or action and others. (3) 46, XX disorders of sex development (46, XX DSD) for example: disorders of gonadal (ovarian) development, fetal androgen excess and others.
Treatment strategies include: gender assignment based on diagnosis and consultation, sex hormone replacement therapy, the surgical correction technique. As the most of DSDs patients are vulnerable to develop anxiety disorders and depression, suicidal thoughts and severe mental problems, so they are in need for psychological counseling, and psychiatric treatment and thus it is essential to treat the patients with any diagnosis of a psychiatric disorder for better treatment compliance in the endocrinology department and being without severe psychiatric complaints for building a stable gender identity.
from the psychosocial aspects of (DSDs) we should remember that the ability of children to fully understand relevant aspects of their condition and give proper informed consent is especially important when they have to decide on medical interventions.
The surgical correction technique and the timing of operation need to be individualized according to medical conditions, experience of the surgeon and the complexity of each case. The general trend is towards the early reconstruction with subsequent early and long-term management of the patient.
DSD is not a rare disorder in Egypt. Its frequency was about 3.15% among the patients registered at the Medical Genetics Center in the Pediatrics Hospital, Faculty of Medicine, Ain-Shams University and was 0.14% (1.4/1000) among all patients attending the Pediatrics Hospital during the period of 1966-2009. In other localities in Egypt (Alexandria and Giza), DSD represented 7.3% and 7% respectively of the total referred cases which is considered high. Mazen et al. also reported an incidence of 2/10,000 in Great Cairo and Qalyubiyah governo-rates in newborns and infants up to the age of 6 months.
from this review we conclude that DSD is a complex problem requires a multidisciplinary team working together to determine a definitive diagnosis as quickly as possible. This may reflect the effect of exposure to numerous diagnostic procedures, as well as psychosocial consequences of the disorder per se. Thus, with the aim of reducing the degree of social and psychological problems and improving patients’ quality of life, psychological counseling should be available to all patients diagnosed with DSD and their families.