{Reference Type}: Case Reports
{Title}: Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia.
{Author}: Kumar KCP;Banik S;Joy P;Sahoo S;
{Journal}: Int J Appl Basic Med Res
{Volume}: 14
{Issue}: 2
{Year}: 2024 Apr-Jun
暂无{DOI}: 10.4103/ijabmr.ijabmr_473_23
{Abstract}: A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation. There was no history of consanguinity, and a physical examination raised concerns about possible disorders of sexual development (DSD). Karyotyping and fluorescence in situ hybridization results were consistent with the presence of two X chromosomes, revealing the patient to be a genotypic female. Sanger sequencing showed a heterozygous pathogenic mutation in the CYP21A2 gene known to be associated with 21-hydroxylase deficiency, thus confirming the diagnosis of congenital adrenal hyperplasia (CAH), Prader stage V. DSD with CAH is distressing for the patient and their families, and the management needs a multidimensional approach involving diverse medical, genetic, and psychological considerations. Cytogenetic and molecular genetic studies play an essential role in diagnosis and decision-making and should be made affordable in developing countries for better patient care.