Elevated Cord Human Chorionic Gonadotropin in Leprechaunism

Abstract

Many of the distinguishing features of leprechaunism (Donohue's syndrome) suggest abnormalities of endocrine regulation. Prominent genitalia, rugation of the labioscrotal folds, polycystic ovaries, and precocious puberty are associated with leprechaunism,1 and these characteristics indicate possible pathology in the hypothalamic-pituitary-gonadal axis. In the few reported cases of leprechaunism in which this area has been evaluated, no consistent biochemical abnormalities have emerged. A review by Elders et al1 describes three cases in which baseline gonadotropin levels were normal, and gonadotropin-releasing hormone response in the one patient tested was normal.1 Szilagyi et al, however, reported a single case in which baseline luteinizing hormone was extremely elevated (385 mIU/mL) and did not respond to luteinizing hormone-releasing hormone, whereas baseline follicle-stimulating hormone was slightly elevated (13.0 mIU/mL) and had an exaggerated response to luteinizing hormone-releasing hormone.2