A novel androgen receptor gene mutation in a patient with congenital adrenal hyperplasia associated with penoscrotal hypospadias.

[congenital adrenal hyperplasia]

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 GU 784855 ), resulting in amino acid interchange alanine to threonine at codon 566 in exon 2 (Ala 566 Thr ) (GenBank Protein _id ADD 2 6777 .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 .

Diseases
Validation

Diseases presenting "rare genetic disorder" symptom

aniridia

aromatase deficiency

cohen syndrome

congenital adrenal hyperplasia

cushing syndrome

fabry disease

familial hypocalciuric hypercalcemia

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kindler syndrome

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

oculocutaneous albinism

oligodontia

papillon-lefèvre syndrome

proteus syndrome

triple a syndrome

werner syndrome

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