University of Nottingham, UK
Precocious puberty is uncommon in males and presents an interesting differential that can be narrowed down by an understanding of endocrine physiology. This case illustrates this and also led the author to explore the research basis for the treatment goals in this condition.
A boy of 4 1/2 years was referred to paediatric endocrinology clinic due to concerns about tall stature and pubic hair growth noted over the last 2 months. His past medical history was unremarkable although his father reported a longer recovery time from minor illness than the rest of the family. There was no significant family history and his parents were average height and underwent puberty at average ages. He was above the 99.6th percentile for height and on the 98th for weight. Examination was unremarkable besides the fact that he was at Tanner stage 2-3 for genital development and 2 for pubic hair. Testes were prepubertal. Blood results revealed a low FSH (<0.5 IU/L), low cortisol (73 ?mol/L), raised androstenodione (4.4 nmol/L) and his bone age was 10 years. These, alongside clinical presentation and urine steroid profile, confirmed the diagnosis of simple virilising congenital adrenal hyperplasia.
Precocious puberty is defined as the appearance of signs of puberty before the age 9 in boys. Its estimated incidence is 1:5000-1:10000 (both sexes) but is far rarer in males. It presents an interesting differential and requires swift diagnosis to prevent adverse effects on the child's growth, development and future physical and mental health. Assumptions are made about the importance of 'normal' stature to quality of life, however evidence for this is lacking in the literature. Likewise, many beliefs on the impact of precocious puberty on male children are based on studies on female patients. The author has concluded that there may be further scope for research in these areas.
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