Discussion DSDs affect individuals between the neonatal period and adulthood, with various phenotypes and degrees of severity, however all have a significant psychological and clinical impact. Due to a probably low risk of gonadal tumour in these patients, an increasing number of adult women with CAIS prefer to retain their gonads indefinitely Her clinical and hormonal profile could be defined only after the first weeks of life, when the CYP21A2 study had already been started.
The external genitalia ranged from predominantly female with clitoromegaly and labial fusion to predominantly male with micropenis and hypospadias. In the third patient, the deletion of the SRY gene region with a 46,XY karyotype was demonstrated; in this case, the presence of SRYas detected by FISH, suggests the probable alteration of the gene by mutation in the annealing region, atypical prenatal sex differentiation disorders in San Bernardino has an effect on the function of the gene, and is likely to be the cause of the DSDs phenotype The features in different affected family members can be variable.
What is new in cryptorchidism and hypospadias—a critical review on the testicular dysgenesis hypothesis. In both cases the diagnosis was established only during midgestation by the demonstration of an enlarged pseudophallus structure and ambiguous external genitalia.
The major indications for surgery in DSD are gonadectomy generally to mitigate increased risk of malignancy and genital reconstructive surgery, and both carry significant controversy. Open in new tab Download slide. Sign In. Atypical prenatal sex differentiation disorders in San Bernardino genetics of human androgen insensitivity.
Our results highlight that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to possibly achieve a precise etiological diagnosis in every patient.
InHughes et al. Since the discovery of SRY inwe have significantly increased our knowledge of genes and gene networks involved in gonad development and the etiology of DSD. In humans, mutations in EMX2 have been found in patients with schizencephaly a rare condition in which a person is born with clefts in the brain that are filled with liquor but no gonadal phenotype have been described.
However, molecular characterization cannot be reached in a consistent number of cases, due to the still limited knowledge of etiological determinants. A simple, detailed and comprehensive explanation about what to expect regarding integration in social life, sexual activity, need of hormonal and surgical treatment and the possibility or not of fertility according to the sex of rearing, should also be discussed with the parents, before the attainment of final social sex.
National Center for Biotechnology Information , U. This patient had abnormalities found in different craniosynostosis syndromes short stature, brachycephaly, proptosis, downslanting palpebral fissures, low-set dorsally rotated ears, reduced extension at the elbows but absence of hand and feet anomalies and a specific syndromic diagnosis was not established.
Introduction In mammals, biological differences between males and females are determined genetically during embryonic development. Most of our patients present satisfactory sexual performance as long as they present a penis size of at least 6 cm.