ESPE Abstracts (2015) 84 P-1-58

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

Angela K Lucas-Heralda, S Faisal Ahmeda, Silvano Bertellonib, Anders Juulc, Jillian Brycea, Jipu Jianga, Martina Rodiea, Marie L Johansenc, Olaf Hiortd, Paul-Martin Holterhuse, Martine Coolsf, An Deslooveref, Naomi Weintrobg, Sabine E Hannemah, Tulay Gurani, Feyzad Darendelilerj, Anna Nordenstromk & Ieuan Hughesl

aUniversity of Glasgow, Glasgow, UK; bUniversity Hospital Pisa, Pisa, Italy; cUniversity of Copenhagen, Copenhagen, Denmark; dUniversity of Luebeck, Luebeck, Germany; eUniversity Hospital Schleswig-Holstein, Kiel, Germany; fUniversity Hospital Ghent, Ghent, Belgium; gTel Aviv University, Tel Aviv, Israel; hErasmus MC Sophia Children’s Hospital, Rotterdam, The Netherlands; iMarmara University, Istanbul, Turkey; jIstanbul University, Istanbul, Turkey; kKarolinska Institutet, Stockholm, Sweden; lUniversity of Cambridge, Cambridge, UK

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.

Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.

Methods: The I-DSD Registry and its users were approached to identify all male participants over the age of 14 years and registered as having PAIS. Data were collected regarding date of initial presentation with PAIS, presence/absence of an AR mutation, clinical characteristics, biochemical characteristics and treatment received.

Results: A total of 60 men with a median age of 24 years (range, 15–60) were reported as having PAIS at the time of data collection. Of these 60, 37 (62%) had a confirmed AR mutation. Of those with a confirmed AR mutation, median external masculinisation scores at first and last presentation were seven and nine (3–12), respectively. Median FSH levels at first and last presentation were 2.0 IU/l (0.1–50) and 5.2 IU/l (1.15–89) respectively. Median LH at first and last presentation were 4.8 IU/l (0.04–36) and 9.3 IU/l (1.15–89). 18 (49%) of these men received testosterone therapy at some point between diagnosis and data collection. Regards surgical intervention, 7 (19%) had 1 or 2 hypospadias operations in childhood, whilst 7 (19%) had >2 hypospadias operations. Two (5%) and 11 (30%) males, had unilateral orchidopexy and bilateral orchidopexy, respectively. Although, gynaecomastia was a universal finding, 4 (11%) required mastectomy. Only one subject (2%) was reported to have required treatment for testicular cancer.

Conclusion: Over 50% of boys with PAIS and a confirmed AR mutation virilise without the need for testosterone therapy but many have a high likelihood of multiple operations for hypospadias and biochemical evidence of primary gonadal failure in adulthood. Gynaecomastia that is severe enough to require mastectomy is not uncommon. These data will aid in the long-term management of boys and men with PAIS and a confirmed AR mutation.

Funding: International DSD Registry Travel Grant.