Abstract
Methodology This study was conducted in National Institute of Child Health at Department of Pediatrics, Division of Endocrinology from January 2008 to December 2010. A Total of 127 Patient under age of 14 years with ambiguity, micropenis, hypospadias, cryptorchism and delayed puberty were selected and studied.USG Pelvis, HCG Stimulation test and Chromosomal analysis were carried out in all patients. Two types of HCG stimulation test were performed. Short HCG was done in children ten and less than ten years of age. Prolong HCG was performed in children more than ten years of age. Laproscopy and biopsy were carried out in patients who had mullerian duct structure on USG and also in patients with no gonads. FISH analysis was done in patients who were 46XX karyotype with testes.
Highlights
FISH analysis was done in patients who were 46XX karyotype with testes
Laproscopy and biopsy performed in 4(3%) patients and proved ovotesticular DSD on histopathology
The diagnosis of Gonadal dysgenesis considered in patients who have partial testosterone response, androgen insensitivity in high testosterone response and testicular biosynthetic defect in flat pre and post testosterone response to HCG
Summary
Hormonal and chromosomal analysis in undervirilized male / 46XY DSD. A Total of 127 Patient under age of 14 years with ambiguity, micropenis, hypospadias, cryptorchism and delayed puberty were selected and studied.USG Pelvis, HCG Stimulation test and Chromosomal analysis were carried out in all patients. Prolong HCG was performed in children more than ten years of age. Laproscopy and biopsy were carried out in patients who had mullerian duct structure on USG and in patients with no gonads. 8(6%) 46 XY DSD patients had both wolffian and mullerian duct structure on ultrasonography. Laproscopy and biopsy performed in 4(3%) patients and proved ovotesticular DSD on histopathology. Laproscopy was done in 2(1.5%) 46 XY patients with no gonads on ultrasonography and diagnosed as a case of testicular regression syndrome on per-operative findings. The diagnosis of Gonadal dysgenesis considered in patients who have partial testosterone response, androgen insensitivity in high testosterone response and testicular biosynthetic defect in flat pre and post testosterone response to HCG
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