Supplementary Material for: Prader Willi Syndrome diagnosis in adulthood: a case report

The Prader-Willi Syndrome is a rare complex multisystem genetic disorder characterized by neonatal hypotonia and feeding difficulties in early infancy, cognitive impairment, psychiatric disease and multiple dysmorphic features. Hypothalamic dysfunction is the main endocrinological complication, leading to hyperphagia, with severe obesity, and hypopituitarism, among other abnormalities. Even though manifestations are present from birth, affected individuals can remain undiagnosed until adulthood. In this case, we described a 40-year-old woman with cognitive impairment and previously diagnosed hypothyroidism, referred to endocrinology due to morbid obesity, insatiable appetite and food voracity. She reported menarche after the age of 20, oligomenorrhea and recurrent episodes of asthenia, lethargy and hypothermia, especially when she had respiratory infections. On physical examination, she had short stature, almond-shaped eyes, thin upper lip, lip inversion, small hands and centripetal obesity. Her lab tests showed normal free-T4 levels under levothyroxine, low morning serum cortisol and low IGF-1. Pituitary magnetic resonance showed a small pituitary gland. The diagnosis of hypopituitarism was established, and she started prednisolone, with resolution of the lethargy and hypothermia episodes and improvement of her general condition. Prader-Willi Syndrome was suspected and confirmed by a genetic test. This case highlights the importance of the physician to be attentive to the patient at each consultation, taking a holistic view of the patient, and avoid assuming their previous diagnoses as definitive. Furthermore, this case draws attention to the delayed diagnosis of a genetic syndrome, despite the patient having received specialized care at a tertiary center.