Case 2: An unusual case of delayed puberty

Abstract

An 18-year-old man was referred for evaluation of delayed puberty. History revealed that he had never grown facial, axillary or pubic hair, his voice had not changed, and he rarely had acne or body odour. His mother recalled that he was quite small as a young child but, after five years of age, seemed to grow normally. She also reported that his energy level was quite low and he rarely left the house except for school. He missed approximately five days of school each month because of illness. The patient had a difficult delivery requiring admission to the neonatal intensive care unit, but the details surrounding this event were unclear. His mother reported that his “heart stopped”. He was subsequently seen by paediatricians at three years of age for speech delay, nine years of age for undescended testes and 14 years of age for cognitive delay. No other concerns were noted at these visits. The patient’s vitals were normal. His height was within 3 cm of his mid-parental height. His body mass index was in the 85th percentile. He appeared younger than his actual age. His fundi and visual fields were normal. His thyroid gland was not enlarged. He had no axillary or pubic hair. His phallus measured 3 cm and both testes were palpable and approximately 2 mL in volume. He was Tanner Stage 1 for pubertal development. Blood work and imaging revealed the diagnosis.