Ambiguous genitalia: an overview of 7 years experience at the Children's Hospital and Institute of Child Health, Lahore, Pakistan
Pakistan Journal of Medical Sciences. 2019; 35 (1): 151-155
in En
| IMEMR
| ID: emr-202999
Responsible library:
EMRO
Objective: To determine the classification and etiological diagnosis of children presented with ambiguous genitalia/atypical genitalia according to the newer classification system of Disorder of Sex Development [DSD]
Methods: This observational, cross-sectional study was conducted at the Department of Pediatric Endocrinology and Diabetes at The Children's Hospital and Institute of Child Health, Lahore from January, 2007 to December; 2014. Files of all the children with ambiguous genitalia were retrospectively analyzed and relevant data was retrieved. All the information was recorded on predesigned proforma and analyzed accordingly
Results: A total of 300 cases of ambiguous genitalia classified according to the new DSD classification. 46, XX DSD were 54.3% [n=163], 46, XY DSD were 43.7% [n=131], sex chromosome DSD were 2% [n=6]. Among 46, XX DSD cases, the most common cause was congenital adrenal hyperplasia [97%, n=158]. However, in 46, XY DSD partial androgen insensitivity/5?-reductase deficiency [62%. n=81] constituted the most commonest disorder. Other causes of 46XY DSD include testosterone synthesis defect[23%], congenital adrenal hyperplasia [CAH,12%], testis regression syndrome [1.5%] and persistent mullerian duct syndrome [PMDS,1.5%]. Sex chromosome disorder constituted one case of iso-chromosome X turner syndrome, mixed gonadal dysgenesis [n=3], ovotesticular DSD/chimerism [n=2]
Conclusion: Ambiguous genitalia have varied etiologies, 46; XXDSD found being the commonest of all, showing predominance of CAH especially salt loosing type. The early detection and prompt treatment of cases of ambiguous genitalia plays a pivotal role in the management of acute life threatening condition and gender assignment
Methods: This observational, cross-sectional study was conducted at the Department of Pediatric Endocrinology and Diabetes at The Children's Hospital and Institute of Child Health, Lahore from January, 2007 to December; 2014. Files of all the children with ambiguous genitalia were retrospectively analyzed and relevant data was retrieved. All the information was recorded on predesigned proforma and analyzed accordingly
Results: A total of 300 cases of ambiguous genitalia classified according to the new DSD classification. 46, XX DSD were 54.3% [n=163], 46, XY DSD were 43.7% [n=131], sex chromosome DSD were 2% [n=6]. Among 46, XX DSD cases, the most common cause was congenital adrenal hyperplasia [97%, n=158]. However, in 46, XY DSD partial androgen insensitivity/5?-reductase deficiency [62%. n=81] constituted the most commonest disorder. Other causes of 46XY DSD include testosterone synthesis defect[23%], congenital adrenal hyperplasia [CAH,12%], testis regression syndrome [1.5%] and persistent mullerian duct syndrome [PMDS,1.5%]. Sex chromosome disorder constituted one case of iso-chromosome X turner syndrome, mixed gonadal dysgenesis [n=3], ovotesticular DSD/chimerism [n=2]
Conclusion: Ambiguous genitalia have varied etiologies, 46; XXDSD found being the commonest of all, showing predominance of CAH especially salt loosing type. The early detection and prompt treatment of cases of ambiguous genitalia plays a pivotal role in the management of acute life threatening condition and gender assignment
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Index:
IMEMR
Type of study:
Observational_studies
/
Screening_studies
Language:
En
Journal:
Pak. J. Med. Sci.
Year:
2019