Endocrine Abstracts

Introduction: Childhood-onset hypopituitarism is an uncommon yet increasingly diagnosed disorder. As endocrinologists, we generally deal with the complexities of hormonal replacement and, when required, follow these patients to detect tumor recurrences. However, some causes of childhood- onset-hypopituitarism have comorbidities which can significantly increase morbi-mortality. We present the case of a 21-year-old girl who was diagnosed with ROHHAD syndrome.

Case report: A 3-year-old female child presented to a Pediatric Clinic in Madrid because of rapid-onset-hyperphagia and increased-body-weight. The patient did not receive hormonal assessment at that stage and was discharged with dietary advice. One year later the patient developed episodes of unprovoked respiratory arrest but could be resuscitated. Respiratory assessment revealed central apnea that required ongoing ventilatory support and nocturnal-oxygen airflow. The patient also showed impaired language skills and mild mental retardation, and continued surveillance detected a mediastinal neuroblastoma (successfully resected), and autonomic-dysfunction-related chronic diaphoresis and intermittent diarrhea.

The hyperphagic behaviour persisted and, on reporting growth arrest, the patient, aged 8, was finally referred to a Pediatric Endocrinology Department (PED). Hormonal profile confirmed GH deficiency, hypogonadotropic hypogonadism and secondary hypothyroidism, which were duly replaced. Genetic study did not find PHOX2B mutations, but the patient was nonetheless diagnosed with ROHHAD syndrome on clinical grounds.

The patient is now a 23-years-old adult female who follows daily outdoor activities at a specialised educational centre. She still receives estrogen–progestin replacement, levothyroxine, and she is about to restart GH after her transition from a PED to our Adult Endocrinology clinic was delayed for 2 years.

Conclusion: We present a case of ROHHAD syndrome, an uncommon cause of early-onset-hypopituitarism whose cardinal features include hyperphagia, neuroblastomas, autonomic dysfunction and life-threatening central apnea. Early recognition dramatically reduces morbimortality. These patients also need transition schedules to ensure that proper surveillance strategies continue through adult life.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.