Langerhans cell histiocytosis presenting as isolated hypothalamic involvement

Abstract

Background: Obesity and associated primary amenorrhea are common presentations in the endocrinology outpatient department. Hypothalamic obesity is rare, and Langerhans cell histiocytosis (LCH) causing hypothalamic dysfunction is even more rare. Clinical Description: A 16-year-old girl presented with rapid weight gain over preceding 2 years, associated with headache for 2 months and primary amenorrhea. On examination, she had a weight and body mass index corroborating with obesity, while her height was age-appropriate. In addition, she had acanthosis nigricans but no Cushingoid features or intellectual disability. Systemic examination was normal. Management and Outcome: Considering a possibility of neuroendocrine cause of obesity, investigations were carried out. Bone age was delayed. Hormonal work-up revealed low estradiol, luteinizing hormone, and follicular stimulating hormone while thyroid function tests, growth hormone, and cortisol were normal, suggestive of hypogonadotropic hypogonadism. Magnetic resonance imaging of the brain revealed a mass in the hypothalamus region with a normal pituitary gland and stalk which was confirmed to be LCH on a stereotactic biopsy. Fluorodeoxyglucose-positron emission tomography showed no other sites of abnormal uptake. Thus, the child was diagnosed with a low-risk single-system LCH and treated accordingly. Conclusion: This case creates the awareness regarding the rare possibility of isolated hypothalamic involvement in LCH, causing obesity and primary amenorrhea, confirmed by biopsy.

Keywords

• amenorrhea
• hypogonadism
• obesity