Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.
Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.
Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.
Results: Of the 205 cases in the I-DSD Registry from 26 centres who were over 10 yrs of age, information was available in 64 cases from 13 centres with a median number of cases per centre of 4 (range 1,16). The median age at first presentation was 0.9yrs (0.1,41.0). The median external masculinisation score (EMS) at presentation was 6 (2,12). Of the 64 participants, atypical genitalia were the presenting feature in 40 (63%), an AR variant had been identified in 48 (75%) and gynaecomastia was reported in 49 (77%). Of the 48 AR variant+ve cases, only 5 (10%) had no gynaecomastia at a median age at last presentation of 14.4 yrs (9.2,17.0). On the other hand, 6 of 13 (46%) cases in whom AR analysis had excluded a variant, had no gynaecomastia at a median age of 16.0yrs (13.0,20.0) (P=0.002). Median age at onset of puberty and at time of development of gynaecomastia were 12.0yrs (10.5,14.0) and 13.5yrs (11.0, 29.0), respectively. Median EMS at time of gynaecomastia development was 9 (3,12). In the cases with biochemistry available, serum testosterone was reported to be raised in 17/32 (53%) and LH and FSH were raised in 14/29 (48%) and 9/28 (32%), respectively. Of the 43 cases in whom information was available, 30 (70%) had either undergone surgery or were awaiting surgery (n,3) and 11 of these 30 had a poor response to a wide range of medical therapy. Median age at time of surgery was 16yrs (13,34). Median clinician score for therapy effectiveness was reported as 10 out of 10 (3,10) in those who had undergone surgery compared to 4.5 (1,9) in those who had medical therapy (P<0.001). Of 43 participants, 12 (28%) were reported to have received clinical psychology support and there was one report of gender dysphoria.
Conclusion: Gynaecomastia is common in PAIS but not necessary universal and may present without the typical biochemical signs of AIS. The current data suggest that surgical management may be more effective than medical therapy but there is a need for further systematic studies.
15 Sep 2022 - 17 Sep 2022