Pubertal development and hypogonadism in males with APECED - a retrospective study.

The aim of this study was to describe the course of puberty and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Finnish APECED cohort followed 1970-2020. Anthropometry, testicular volumes, and FSH, LH, and testosterone concentrations were analysed retrospectively. Forty-three males were followed until the median age of 42.5 years (range, 16.2-74.8). All subjects fulfilled the clinical criteria of APECED. The median age at the onset of spontaneous puberty was 13.3 years (10.8-14.8). Testosterone medication was used to promote pubertal development from the median age of 14.9 years (13.5-15.7), for 0.7-3.3 years in eight patients. The median adult height was 173.0 cm and differed from the mid-parental target height on average -1.3 SDS (P < 0.001). Hypogonadism was treated in six patients (14%). Azoospermia was found in three patients. Further studies are required to explore the role of AIRE in sperm production and testicular insufficiency.