Bassa statura non sindromica e ritardo puberale: non solo ritardo costituzionale di crescita e pubertà

A 14-year-old boy with suspected constitutional delay of growth and puberty (CDGP) presented with short stature, absence of secondary sex characteristics, bone age delayed by one year and family history of CDGP in his mother. The external genitalia were normal. Re-evaluated at the age of 17 years and 7 months (as he missed several visits), he presented with a short near-final height (bone age consistent with chronological age) below the target height, signs of progressed virilization, but insufficient testicular volume. The prevalence of nonsyndromic 46,XX testicular disorder is estimated at 1:20,000 males. In 80% of cases the condition is due to the presence of the SRY gene on the X chromosome, resulting from abnormal paternal meiosis. It is characterized by short stature, hypergonadotropic hypogonadism and sterility. The need for routine screening of gonadal cancer is still a matter of debate. Treatment of this condition consists of testosterone replacement from the pubertal age. Psychological support should also be warranted since the communication of the diagnosis. The case suggests that non-syndromic 46,XX testicular disorder should be considered when evaluating a boy with hypogonadism and short stature, especially in patients with suspected CDGP who have progressive virilization and advancement of bone age, despite no increase in testicular volume.