Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: 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 a Finnish APECED cohort followed up between 1970 and 2020. Anthropometry, testicular volumes and FSH, LH, and testosterone concentrations were analyzed retrospectively. Forty-three males were followed up until the median age of 42.5 years (range, 16.2-74.8). All subjects fulfilled the clinical criteria for 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 8 patients. The median adult height was 173.0cm and differed from the mid-parental target height on average -1.3 SDS (P < .001). Hypogonadism was treated in 6 patients (14%). Azoospermia was found in 3 patients. Further studies are required to explore the role of the autoimmune regulator in sperm production and testicular insufficiency.

Automated summary

The aim of this study was to investigate the puberty and hypogonadism in males with APECED. Forty-three males were followed up until adulthood, and the onset of spontaneous puberty was found to occur at a median age of 13.3 years. Testosterone medication was used to promote pubertal development in some patients. The study also identified hypogonadism and azoospermia in a subset of patients.