5 alpha steroid reductase deficiency in Turkey

Area of Science:

• Endocrinology
• Human Genetics
• Molecular Biology

Background:

• 5 alpha steroid reductase 2 (5 alpha SR2) deficiency is an autosomal recessive disorder.
• It results in male pseudohermaphroditism (MPH) due to impaired conversion of testosterone to dihydrotestosterone (DHT).
• DHT is crucial for the proper differentiation of external male genitalia.

Observation:

• This study investigates 5 alpha SR2 gene mutations in the Turkish population.
• Eight Turkish patients with MPH were analyzed, along with a large pedigree.
• The Leu 55 Gln mutation in exon 1 was found in six of eight patients, indicating high prevalence.

Findings:

• A large pedigree revealed 49.41% of 85 members carried the Leu 55 Gln mutation.
• Eleven individuals were homozygous for the mutation, including 8 genetic males and 3 asymptomatic females.
• The delta Met 157 mutation in exon 3 was also observed in additional Turkish patients, suggesting increased prevalence.

Implications:

• The Leu 55 Gln mutation appears to be a hotspot in Turkish patients with 5 alpha SR2 deficiency.
• Genetic analysis for Leu 55 Gln and delta Met 157 mutations is recommended for Turkish patients with MPH.
• Homozygous asymptomatic female carriers pose a risk for transmitting the condition, especially in consanguineous populations.