A syndrome of primary gonadal failure, short stature, mitral valve prolapse, and mental retardation

American Journal of Medical Genetics
L CantalamessaM Fraccaro

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.

References

Nov 4, 1974·JAMA : the Journal of the American Medical Association·F A BaughmanM J Demaray
Jan 1, 1966·The Journal of Pediatrics·W R ForneyD J Pascoe
Jan 1, 1981·American Journal of Medical Genetics·W J DuncanR D Rowe

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Citations

Jun 1, 1991·American Journal of Medical Genetics·G NeriJ F Reynolds
Aug 1, 1990·American Journal of Medical Genetics·H V TorielloD F Waterman
Oct 26, 2013·Journal of Diabetes Research·Xin JiangYaqin Qu

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