When anorexia nervosa symptoms mask Kallmann syndrome

Although anorexia nervosa might delay puberty, a structured assessment at its onset remains crucial in excluding congenital delayed puberty diseases.

During the follow-up of a 15-year-old girl suffering from anorexia nervosa, a change of treatment has led to a thorough medical history revealing the absence of the olfactory bulb. Kallmann syndrome diagnosis was made on a blood analysis and the patient was treated with a multidisciplinary approach.

After the diagnosis, our patient was relieved as it has clarified some of her symptoms including anosmia, poor height and maturational delay. Too often a delayed puberty is attributed to anorexia nervosa itself without considering medical history. This case definitely shows the importance of performing a case history and early diagnosis in pre-pubertal AN to rule out other rare diseases and avoid mid- and long-term sequelae.

IV (case study).