Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A<G mutation of the SRD5A2 gene in an adolescent girl presented with primary amenorrhea

Nicos Skordis, Christos Shammas, Elisavet Efstathiou, Amalia Sertedaki, Vassos Neocleous, Leonidas Phylactou

Research output: Contribution to journalArticlepeer-review

Abstract

BACKGROUND: The clinical spectrum of 5α-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genitalia at birth to nearly complete male phenotype. CASE REPORT: A 14-year-old girl presented with primary amenorrhea (PA) and lack of breast development. She was 173 cm in height, had an increased amount of pubic hair and clitoromegaly (3 cm), with a 4 cm blind vaginal pouch. Gonads were palpable in the inguinal canal bilaterally and no uterus was identified on ultrasound. Chromosomal analysis showed a 46,XY karyotype. The Testosterone/DHT ratio was high (16.5) and further increased to 29.4 after stimulation with hCG, thus favouring the diagnosis of 5α-reductase deficiency. Since the issue of gender change was not considered, gonadectomy was performed followed by successful feminisation with hormonal replacement therapy. GENETIC STUDIES: Molecular analysis of the SRD5A2 gene by DNA sequencing of all 5 exons revealed the presence of the splice mutation A>G at position-2 of the acceptor site of intron 1/exon 2 (IVS1-2A>G) in homozygosity. Both non-consanguineous parents were found to be heterozygotes for this mutation. CONCLUSIONS: Although rare, SRD5A2 gene defect should be suspected in any girl presenting with PA and virilisation at puberty. The IVS1-2A>G mutation of the SRD5A2 gene predominates in Greek-Cypriot patients with 5α-reductase deficiency and very likely reflects a founder effect.

Original languageEnglish
Pages (from-to)230-235
Number of pages6
JournalHormones
Volume10
Issue number3
Publication statusPublished - Jul 2011

Keywords

  • 46
  • 5α-reductase
  • Male pseudohermaphroditism
  • SRD5A2 gene
  • XY disorder of sex development (DSD)

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