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 language | English |
|---|---|
| Pages (from-to) | 117-120 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 33 |
| Issue number | 1 |
| Publication status | Published - 1989 |
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ASJC Scopus subject areas
- Genetics(clinical)
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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 journal › Article
}
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 -