title: A novel androgen receptor gene mutation in a patient with congenital adrenal hyperplasia associated with penoscrotal hypospadias.
abstract: Congenital adrenal hyperplasia (CAH) associated with penoscrotal hypospadias is a rare case of disorders of sex development. Here, we report clinical, genetic, biochemical, and molecular findings in a 2-year-old infant with CAH and penoscrotal hypospadias. Chromosomal analysis revealed 46,XX karyotype. Hormonal investigations indicated low levels of cortisol and elevated levels of testosterone, 17-hydroxyprogesterone, and androstenedione hormone. Molecular genetic testing of androgen receptor (AR) gene identified a novel homozygous missense mutation of single nucleotide transition G to A at position 2058 (GenBank accession number GU784855), resulting in amino acid interchange alanine to threonine at codon 566 in exon 2 (Ala566Thr) (GenBank Protein_id ADD26777.1). The nature of the mutation presented is in the highly conserved DNA-binding domain of the AR gene. The novel mutation identified in the rare genetic disorder provides additional support to the previously reported genotype-phenotype correlations, and our finding has expanded the spectrum of known mutations of the AR gene.
authors.affiliation: Department of Biotechnology, University College of Science, Osmania University, Hyderabad, India. Electronic address: drvikasonline@gmail.com.
authors.forename: Vikas
authors.initials: V
authors.lastname: Sharma
authors.affiliation: Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
authors.affiliation: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
authors.forename: Akka
authors.initials: A
authors.lastname: Jyothy
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007021:Hypospadias / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011944:Receptors, Androgen / Q000235:genetics / Q000378:metabolism*
chemical_list: D011944:Receptors, Androgen