ESPE Abstracts

Introduction: 5-α-Reductase type 2 deficiency (5αRD2) is 46,XY disorder of sex development that requires androgen treatment for normal male external genitalia development. Despite concerns regarding precocious puberty and stunted growth associated with androgen treatment, limited research has been conducted on its effects on individuals with 5αRD2. The present study aims to evaluate the impact of androgen treatment on bone age (BA) and height status in children with 5αRD2.

Methods: The study involved 19 participants who were followed up for an average of 10.6 years (range 1.4 to 20.0 years). Out of these, 12 received androgen treatment. We compared BA and height SDS between the treatment and non-treatment groups, as well as between the dihydrotestosterone (DHT) treatment and testosterone enanthate (TE) treatment groups.

Results: Although the height of the 19 patients with 5αRD2 was above average, the height standard deviation scores (SDS) relative to BA were below average, particularly in the androgen treatment group. This can be attributed to the advancement of BA after androgen treatment. The DHT treatment did not lead to BA advancement and an increase in height SDS for BA, whereas TE treatment resulted in a tendency for BA advancement and a decrease in height SDS for BA. The increase in height SDS for BA during DHT treatment was greater whereas the height SDS for BA during TE treatment was reduced in prepubertal period.

Conclusion: Based on the findings, DHT treatment is more favorable for height, while TE treatment leads to BA advancement, particularly during the prepubertal period in patients with 5αRD2. Therefore, the age and type of androgen used should be carefully considered to minimize the risk of height reduction in these patient groups.