Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a...

Area of Science:

• Endocrinology
• Genetics
• Immunology

Background:

• Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disorder.
• Understanding the endocrine manifestations, particularly pubertal development and hypogonadism, in males with APECED is crucial for patient management.

Purpose of the Study:

• To describe the course of puberty and hypogonadism in males with APECED.
• To analyze anthropometric data, testicular volumes, and hormone levels (FSH, LH, testosterone) in a long-term Finnish cohort.

Main Methods:

• Retrospective analysis of anthropometric data, testicular volumes, and hormone concentrations.
• Follow-up of 43 males with APECED from 1970 to 2020, with a median follow-up age of 42.5 years.

Main Results:

• The median age of spontaneous puberty onset was 13.3 years.
• Testosterone medication was administered to 8 patients to promote pubertal development.
• Median adult height was 173.0 cm, with a significant difference from mid-parental target height (-1.3 SDS).
• Hypogonadism was diagnosed and treated in 14% of patients (6 individuals).
• Azoospermia was identified in 3 patients.

Conclusions:

• Males with APECED may experience delayed puberty and altered adult height.
• Hypogonadism and impaired sperm production are significant concerns in this population.
• Further research is needed to elucidate the role of the autoimmune regulator (AIRE) in testicular function and sperm production.