Method Patients were examined, diagnosed and treated DSD or ambiguous sex at (NHP) from 31/07/2002 to 31/7/2012. Criteria that suggest DSD include 1. overt genital ambiguity (eg, cloacal exstrophy) 2. apparent female genitalia with an enlarged clitoris, posterior labial fusion, or an inguinal/labial mass 3. apparent male genitalia with bilateral undescended testes, micropenis, isolated perineal...

"woe,, " ,, " "women or men-our chromosomes, our genitalia, how we (and others) are brought up to think about ourselves, or all of the above? One of the first responses to the birth of a child of ambiguous sex by clinicians, and parents, is to seek to "disambiguate" the situation: to assign the newborns identity as either female or male, surgically modify the child's genitalia to conform believ...

BACKGROUND 46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD. METHODOLOGY/PRINCIPAL FINDINGS To clarify the role of cryptic rearrangements in the development of 46,XY DSD, we performed array-based comparative genomic hybridization analysis for 24...

Chimerism is defined as the presence in a subject of more than one stable and genetically distinct cell line; cases reported so far include both patients with ambiguous genitalia and healthy subjects. The biological mechanisms, which may give origin to chimeras, are complex, and can be understood by analyzing DNA samples of the patients and their parents using molecular techniques. The objectiv...

BACKGROUND/PURPOSE Gender assignment to a neonate with ambiguous genitalia is crucial. Patients with an absent vagina require the construction of an artificial vagina. In an effort to improve care, the authors have categorized their experience with this group of children. METHODS Since 1974, we cared for 114 patients with anomalies of the genitalia. There were 53 genotypic girls with congenit...

Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner...

holoprosencephaly (hpe) is a rare congenital brain malformation associated with multiple midline facial defects. this anomaly is resulted from the failure of diverticulation and cleavage of primitive prosencephalon during weeks 4-8 of gestation. hpe is the most common forebrain developmental anomaly in human with the incidence rate of 0.49-1.2 cases per 10,000-20,000 term births. in this study,...