title: A syndrome of primary gonadal failure, short stature, mitral valve prolapse, and mental retardation.
abstract: Two brothers referred for hypogonadism presented with short stature, mild mental retardation, and minor anomalies. In addition, both patients had hypogonadism due to primary gonadal failure and mitral valve prolapse, in the absence of other heart defects. A complete hormonal evaluation in one of the patients showed abnormal growth hormone (GH) and gonadotropin responses to different stimuli, findings suggestive of a disorder of hypothalamic-pituitary regulation. Both patients had normal chromosomes (46,XY) as did their mother (46,XX), who had some of the clinical manifestations found in her sons but in a milder form. We propose that this is a new syndrome.
authors.affiliation: Cattedra di Semeiotica Medica I, Università di Milano, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Cantalamessa
authors.forename: M
authors.initials: M
authors.lastname: Baldini
authors.forename: B
authors.initials: B
authors.lastname: Ambrosi
authors.forename: M
authors.initials: M
authors.lastname: Fraccaro
mesh_terms: D000328:Adult; D002675:Child, Preschool; D006130:Growth Disorders; D013007:Growth Hormone-Releasing Hormone / Q000494:pharmacology; D006728:Hormones / Q000032:analysis; D006801:Humans; D007006:Hypogonadism; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008945:Mitral Valve Prolapse; D009634:Noonan Syndrome / Q000175:diagnosis; D013577:Syndrome
chemical_list: D006728:Hormones; D013007:Growth Hormone-Releasing Hormone