The Case of Hellmuth in The Autistic Psychopathy – Suffering from Cushing Syndrome?

Autism spectrum disorders are increasingly linked to an altered endocrine metabolism and it was hypothesized that any disturbances in Hypothalamus-Pituitary adrenal gland axis respectively steroid hormone metabolism is reflected in the habitus of affected autistic individuals. One case described by Hans Asperger [1] was Hellmuth – at the time of description an 11-year-old boy – for whom strong indicators concerning an endocrine pathology can be found. If comparing with Cushing syndrome remarkable similarities can be identified. Weak bones would be in line with a glucocorticoid induced osteoporosis or even rachitis with involvement of thyroid and parathyroid glands. Interestingly, Hellmuth was treated with thyroid and hypothalamus hormones not having substantial effects. He was described having a face with hanging chops and with a small head remembering of a microcephalus, which can be further interpreted as signs of a typical Cushing Habitus. Laboratory parameters are missing, but the clinical signs are relatively straight forward, and an endocrinology involvement was explicitly mentioned by Hans Asperger [1]. Probably, hormones from different classes’ glucocorticoids, mineralocorticoids and androgens were involved. Furthermore, mentioned sleep disturbances are in line with a dysregulation of Melatonin Stimulating Hormone on pineal gland level and the abnormal diet might be a result of a dysregulation of Insulin and Glucagon homeostasis in line with a general endocrine dysregulation in this autistic individual suffering from Asperger Syndrome. These metabolites are characterized through cholesterol as precursor allowing to suggest that all steroids are involved in autism. A link between cholesterol, vitamin D, and steroid hormones which subsequently impacts on the development of at least some cases of autism have already been suggested.