Puberty in individuals with a disorder of sex development
Abstract
Disorders of sex development (DSDs) may affect the gonadal function and thereby the puberty. The pubertal development may be absent, incomplete, or the hormonal effects may be different than anticipated. Because of a high risk of malignancy, gonadectomy is often performed. Hormone secretion from a gonadal tumor may even be the presenting symptom complicating the diagnosis. A need for treatment with testosterone or estrogen is not uncommon, also in cases with a spontaneous start of puberty. This review will focus on the clinical presentations during puberty in different types of DSDs, with the aim to facilitate identification of individuals with an atypical pubertal development indicative of a DSD and to ensure proper referrals and initiation of adequate investigations and treatments.
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