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 journalArticle

2 Citations (Scopus)

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

Fingerprint

Hypogonadism
Pituitary Diseases
Mitral Valve Prolapse
Nuclear Family
Gonadotropins
Intellectual Disability
Growth Hormone
Siblings
Chromosomes
Mothers
Cantalamessa Baldini Ambrosi syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A syndrome of primary gonadal failure, short stature, mitral valve prolapse, and mental retardation. / Cantalamessa, L.; Baldini, M.; Ambrosi, B.; Fraccaro, M.

In: American Journal of Medical Genetics, Vol. 33, No. 1, 1989, p. 117-120.

Research output: Contribution to journalArticle

@article{7a10a566bca04bdba196c2883fc2803e,
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.",
author = "L. Cantalamessa and M. Baldini and B. Ambrosi and M. Fraccaro",
year = "1989",
language = "English",
volume = "33",
pages = "117--120",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - A syndrome of primary gonadal failure, short stature, mitral valve prolapse, and mental retardation

AU - Cantalamessa, L.

AU - Baldini, M.

AU - Ambrosi, B.

AU - Fraccaro, M.

PY - 1989

Y1 - 1989

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0024403449&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0024403449&partnerID=8YFLogxK

M3 - Article

VL - 33

SP - 117

EP - 120

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -