Reversal of congenital hypogonadotropic hypogonadism in a man with Kallmann syndrome due to SOX10 mutation

Abstract

Congenital hypogonadotropic hypogonadism (CHH) with either normal olfaction or anosmia (Kallmann syndrome (KS)) is a cause of pubertal failure secondary to pituitary gonadotropin deficiency. It appears during fetal life and persists throughout the postnatal, pre- and post-pubertal periods (1). For many years KS was considered to be a genetic disorder in which CHH persists throughout life, but case series of KS/CHH reported over the past 15 years show that gonadotropin and testicular functions can recover spontaneously, partially or completely (2,3).

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