Robinow’s Syndrome: Partial Primary Hypogonadism in Pubertal Boys, With Persistence of Micropenis

We studied four patients with Robinow’s syndrome. New findings included the following: (1) normal pubertal virilization with persistence of micropenis; (2) elevated basal serum follicle-stimulating hormone levels and a hyperresponse of serum luteinizing hormone to gonadorelin hydrochloride (Factrel) stimulation among postpubertal male patients, suggesting partial primary hypogonadism; (3) normal 5α-reductase and androgen receptor activity in genital skin fibroblasts; and (4) normal to borderline adult height.