Year: 2024 | Month: February | Volume: 14 | Issue: 2 | Pages: 70-75
DOI: https://doi.org/10.52403/ijhsr.20240209
Biochemical, Cytogenetic and Molecular Evaluation of Ambiguous Genitalia in Pediatric Patients
Ankur Jindal1, Lakshay Rana2, Komal Uppal3, Sunil Kumar Polipalli4, Somesh Kumar5, Sreshta Vulla6, Bhavya Bhutani7, Seema Kapoor8
1,2,3,4,5,6,7,8Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College (Delhi University), Delhi 110002.
Corresponding Author: Sunil Kumar Polipalli
ABSTRACT
Objective- Ambiguity in genitalia is a rare phenotypic presentation of genitourinary system which needs immediate attention to evaluate the life-threatening disorder CAH (Congenital Adrenal Hyperplasia) and sex assignment. Hence determining the underlying etiology as soon as ambiguity is observed holds significant importance. The aim of the current study was to investigate the genesis and characteristics of ambiguous genitalia concerning the newborn.
Materials and methods- Biochemical, cytogenetic and molecular assessment was carried out in this study. A total of 100 cases were evaluated for CAH by biochemical analysis. GTG Karyotyping was done for cytogenetic analysis. The patients were further evaluated for Y chromosomal loci (SRY) with Polymerase Chain Reaction. PCR and sequencing based assay were further carried out in one of the case with CAH for CYP21A2 gene mutation analysis.
Result – A total of 100 cases were successfully screened. Biochemical testing for 17- OH progesterone was done and 4 patients were found positive for CAH. On cytogenetic analysis, out of 100 cases, 4cases (4%) demonstrated mosaicism, rest 96 cases (96%) demonstrated a 46,XX or 46,XY karyotype. 6 cases (6%) carried a Y chromosome (46, XY) but were phenotypically female and 5 cases (5%) depicted female karyotype (46, XX) but were phenotypically male. Out of the 11 sex reversed cases, 7 were found positive for SRY gene.
Conclusion- In cases of children with suspected chromosomal anomalies to reveal the contribution of chromosomal disorders in the genesis of sexual ambiguity, molecular cytogenetic assessment can provide valuable insights to solve the problem of sexual ambiguity so that the problem can be resolved as soon as possible to enable effective genetic counseling.
Key words: Ambiguous genitalia, SRY gene, karyotype, CAH