Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome

• Published in: The journal of clinical endocrinology and metabolism
• Main Authors: Patjamontri, Supitcha, Lucas-Herald, Angela K, Bryce, Jillian, van den Akker, Erica, Cools, Martine, Globa, Evgenia, Guerra-Junior, Gil, Hiort, Olaf, Hofman, Paul, Holterhus, Paul-Martin, Hughes, Ieuan A, Juul, Anders, Nordenstrom, Anna, Russo, Gianni, Stancampiano, Marianna R, Seneviratne, Sumudu N, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Weintrob, Naomi, Zelinska, Natalia, Ahmed, S Faisal
• Format: Journal Article
• Language: English
• Published: United States 30.08.2024
• Subjects: disorders of sex development; I-DSD registry; gynecomastia; androgen insensitivity syndrome
• ISSN: 1945-7197
• DOI: 10.1210/clinem/dgae562

Partial androgen insensitivity syndrome (PAIS) is a rare condition that is reported to be commonly associated with gynecomastia in males. To assess the management of gynecomastia in male PAIS. Retrospective review of males with PAIS over the age of 10 years in the I-DSD registry. Of the 205 eligible cases, information was available for 57 from 13 centers. An androgen receptor gene variant was confirmed in 45 (79%) with a median age at first presentation of 1.0 year (range 0.1, 26.0). Of the 45 genetically confirmed cases, gynecomastia was present in 41 (91%) with a median age at the time of gynecomastia development of 13.5 years (11.0, 29.0). In the other 4 (9%) with no gynecomastia, the median age at last assessment was 15.7 years (10.6, 17.0). In 30 cases with information available, micropenis was present at the time of gynecomastia development in 23 (77%). Of the 35 with information available, 2 (6%) exhibited spontaneous resolution between the ages of 15 and 21 years and 25 (71%) had breast surgery at a median age of 15.7 years (14.0, 23.0). Of these 25, 9 (26%) had previously received medical therapy. The median clinician score of effectiveness for medical therapy was 3 (1, 8) compared to 10 (3, 10) for surgery (P < .0001). In 31 with information available, 13 (42%) had received psychology support. Gynecomastia is common in PAIS but not universal. Surgical management may be more effective than medical therapy, but there is a need for further standardized and systematic studies.