ESPE Abstracts

Introduction: Disorders of sex development are challenging conditions for patients, parents and the interdisciplinary health care team. Sex assignment of these patients needs optimal hormonal profile and molecular diagnosis. This study aimed at finding a new tool for differentiation between partial androgen insensitivity and 5 alpha reductase deficiency especially when the molecular diagnosis is unavailable or highly expensive if available.

Methods and Subjects: Forty-four boys were included in this study through a year form Jan 2020 to Jan 2021. They were divided into two groups: partial androgen insensitivity (22 patients) and 5 alpha reductase deficiency (22 patients). All patients were assessed with emphasis on detailed history and thorough clinical examination including stretched penile length and glans diameter. Karyotype and hormonal profile were done for all of them. Imaging studies including ultra-sound for pelvic and inguinoscrotal region were done. All included boys received three intramuscular injections of testosterone enanthate 25 mg every four weeks as a preparation for masculinizing genitoplasty. Stretched penile length and glans diameter were measured again after injections. Moreover, the predicted side effects such as darkening of genital skin and appearance of pubic hair were monitored if they appear during treatment.

Results: The mean stretched penile length (SPL) before testosterone injections was 2.70 ± 0.72 cm, and after injections was 3.99 ± 1.05 cm. while comparing the effect of testosterone injections in the two groups of patients, there was statistically significant relation between the etiology of disorder of sex development and the effect of testosterone injections on penile length. Adverse effects like pubic hair and darkening of genital skin were noticed in only six patients (13.6%). Six boys needed to repeat the course of treatment to improve the penile length before the surgery.

Conclusion: Preoperative testosterone injections can help the treating team to reach an accurate diagnosis as they can differentiate between partial androgen insensitivity and 5 alpha reductase deficiency especially when the molecular diagnosis is unavailable. Therefore, more clear decision of sex assignment can be reached.