• PMID: 24012728
• Gene Name: SRD5A2
• Condition: 5? reductase 2 deficiency
• Association: Associated
• Mutation: insertion of nucleotides TA in exon 1 (c.188_189)
• Sex: Male
• Infertility type: Male infertility

Novel nucleotide insertions in two unrelated Indian patients with 5? reductase 2 deficiency leading to premature termination of SRD5A2 enzyme

Shabir I, Khurana ML, Marumudi E, Khadgawat R, Ammini AC.

T is converted to a more potent androgen, DHT by the action of microsomal membrane enzyme 5α reductase 2. Defects in 5α reductase 2 isozyme results in incomplete virilisation of external male genitalia. Mutations in SRD5A2 gene leads to diminished enzyme activity, thus hampering DHT synthesis from T. We describe two unrelated patients from India with 5αRD2 due to novel insertion of nucleotides in the exon 1 of SRD5A2 gene that lead to premature termination of protein. Master S (case 1; III.8) was 3 years old at initial evaluation, had perineoscrotal hypospadias, microphallus and both testes were palpable in the inguinal region. Master P (case 2; III.9) was born as normal full term baby. He had primary complaint of microphallus, penoscrotal hypospadias and gonads in the inguinal region. Diagnosis of 5αRD2 was made, as T/DHT ratio in the two cases was 41 and 131.2 respectively. Sequence analysis of SRD5A2 gene showed an insertion of nucleotides TA in exon 1 (c.188_189). This resulted in premature termination of the protein due to stop codon at amino acid position 7. The protein formed is drastically truncated and inadequate protein synthesized explains the phenotypic characteristics of our patients. CI - Copyright © 2013 Elsevier Inc. All rights reserved. FAU - Shabir, Iram AU - Shabir I AD - Department of Endocrinology & Metabolism, All India Institute of Medical Sciences, New Delhi 29, India. FAU - Khurana, Madan L AU - Khurana ML FAU - Marumudi, Eunice AU - Marumudi E FAU - Khadgawat, Rajesh AU - Khadgawat R