Surgical Management bests Medical Therapy for Gynecomastia in Partial Androgen Insensitivity Syndrome: Study

Partial Androgen Insensitivity Syndrome is a very rare genetic disorder where patients with the XY chromosome have partial resistance to androgens. Gynecomastia in PAIS patients is among the most common symptoms and causes serious deterioration in the quality of life and psychosocial well-being. The purpose of the study was an assessment of management strategies used in the treatment of gynecomastia in PAIS patients and a definition of the efficacy of medical treatment versus surgical intervention.

This was a retrospective analysis using the I-DSD registry. For this review, only males with PAIS who were above 10 years of age were included, and data from 13 centers were available. In this population, the variant in the androgen receptor gene confirmed the diagnosis of PAIS. A total of 205 cases were considered eligible, while information on 57 of those patients was available. Researchers evaluated age at onset of gynecomastia, various treatment methods, and outcomes related to the effectiveness of medical versus surgical interventions.

Results

• Data were available on 45 genetically confirmed PAIS cases in 79%. Median age at first presentation was 1 year, range 0.1, 26.0 years.

• Of these, 41 patients, 91%, developed gynecomastia at a median age of 13.5 years, range 11.0, 29.0 years.

• Four patients, 9%, did not develop gynecomastia with median age at last review of 15.7 years, range 10.6, 17.0 years.

• Among 30 cases in whom detailed information was available, 23 patients (77%) had presented with micropenis along with gynecomastia.

• As for treatment, among 35 patients with available data, spontaneous resolution of gynecomastia occurred in 2 patients between ages 15 and 21 years.

• The majority, however, required surgical intervention.

• Among 35 patients, 25 patients (71%) underwent breast surgery, and the median age at the time of surgery was 15.7 years of age, range 14.0, 23.0 years.

• Of these, 9 patients (26%) had previously tried medical therapy before opting for surgery.

• Medical therapy was less effective, with a median clinician effectiveness score of 3 (range 1, 8), where surgical therapy was much more effective, with a median effectiveness score of 10 (range 3, 10) (P < .0001).

• The remaining 31 cases, where psychological support was given for 13 patients, 42%, reflects the possible psychological impact that gynecomastia may have in this population.

Gynecomastia is an extremely common, though not universal, finding in affected males with PAIS. Surgical intervention has proven to be significantly more successful than medical management in the treatment of gynecomastia, with a dramatically higher effectiveness score in this series. Though medical intervention can be considered, surgery often proves necessary for long-term resolution. Further study should define standardized approaches to the management of gynecomastia in PAIS individuals.

Reference:

Patjamontri, S., Angela K Lucas-Herald, Bryce, J., van den Akker, E., Cools, M., Globa, E., Guerra-Junior, G., Hiort, O., Hofman, P., Holterhus, P.-M., Hughes, I. A., Juul, A., Nordenstrom, A., Russo, G., Stancampiano, M. R., Seneviratne, S. N., Tadokoro-Cuccaro, R., Thankamony, A., Weintrob, N., … Ahmed, S. F. (2024). Gynecomastia and its management in boys with partial androgen insensitivity syndrome. The Journal of Clinical Endocrinology and Metabolism, dgae562. https://doi.org/10.1210/clinem/dgae562