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

L. Cantalamessa, M. Baldini, B. Ambrosi, M. Fraccaro

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)117-120
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume33
Issue number1
Publication statusPublished - 1989

ASJC Scopus subject areas

  • Genetics(clinical)

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