LH-RH TESTING IN MEN WITH DOWN'S SYNDROME

1978 ◽  
Vol 88 (3) ◽  
pp. 594-600 ◽  
Author(s):  
Richard F. Horan ◽  
Inese Z. Beitins ◽  
Hans Henning Bode
Keyword(s):  
Single Dose ◽  
Sexual Development ◽  
Trisomy 21 ◽  
Cell Function ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Control Group ◽  
Stimulation Tests ◽  
Lh Rh ◽  
Leydig Cell Function

ABSTRACT Males with Down's syndrome frequently present incomplete sexual development and are presumed to be sterile. The intent of this study is to clarify the aetiology of diminished sexual function in men with trisomy 21. Single dose LH-RH stimulation tests were performed in 6 men with Down's syndrome. Compared to a control group of 6 mentally retarded, institutionalized males, the subjects with Down's syndrome had markedly elevated basal FSH and slightly elevated basal LH concentrations. The FSH response to LH-RH stimulation was notably increased in the Down's syndrome group, while the LH response showed a lesser increase. Testosterone concentrations were found to be comparable in the two groups. The results are consistent with the clinical assumption that males with Down's syndrome have decreased spermatogenesis and infertility and that their Leydig cell function is less affected.

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

1995 ◽  
Vol 59 (3) ◽  
pp. 253-269 ◽  
Author(s):  
G. E. DAVIES ◽  
C. M. HOWARD ◽  
M. J. FARRER ◽  
M. M. COLEMAN ◽  
L. B. BENNETT ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Congenital Heart Defects ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome

Trisomy 21 in One of Twin Fetuses

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 52-53
Author(s):  
Richard H. Heller ◽  
Lee S. Palmer
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Healthy Infant ◽  
The Other ◽  
Technical Problems ◽  
The Family ◽  
Successful Execution

Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twin fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.

Cast aside

2021 ◽  
pp. 191-196
Author(s):  
Michael Obladen
Keyword(s):  
Trisomy 21 ◽  
Homo Sapiens ◽  
Down's Syndrome ◽  
Scientific Progress ◽  
Down’S Syndrome ◽  
Chromosomal Anomalies ◽  
Additional Chromosome ◽  
Ethnic Classification ◽  
The Right ◽  
Invasive Techniques

Trisomy 21 originated with Homo sapiens, or even before, as it exists in other primates. However, in antiquity, Down’s syndrome was rare: mothers were younger, and children failed to reach adulthood. For centuries, trisomy 21 and hypothyreosis were confused. Scientific reports originated from asylums for the mentally retarded. In 1866, John Langdon Down at Earlswood published a description of symptoms in his ‘Ethnic classification of idiots’ and coined the term ‘Mongolian’. Jerôme Lejeune identified an additional chromosome 21 causing the disorder. Maternal age rose markedly for various reasons, as did the prevalence of trisomy 21. From 1968, high-risk pregnancies were screened and interrupted because of Down’s syndrome. Non-invasive techniques now enable all pregnancies to be screened to detect chromosomal anomalies early and precisely. The topic is hotly debated and consensus unlikely. Legislation will not halt scientific progress, but it should ensure that in the same society contradictory attitudes can be held and mutually respected: the right to accept a disabled infant and the right not to accept it.

scholarly journals Coincidence of myotonic dystrophy and Down's syndrome (trisomy 21)

1987 ◽  
Vol 50 (1) ◽  
pp. 110-111 ◽  
Author(s):  
J R Ara ◽  
M Tamparillas ◽  
M Montori ◽  
J L Capablo ◽  
A Oliveros
Keyword(s):  
Myotonic Dystrophy ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome

TRISOMY 21 OR 22 IN DOWN'S SYNDROME ?

The Lancet ◽  
1967 ◽  
Vol 289 (7504) ◽  
pp. 1389 ◽  
Author(s):  
M. Fraccaro ◽  
J. Lindsten ◽  
L. Tiepolo
Keyword(s):  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome

scholarly journals Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient.

1994 ◽  
Vol 31 (5) ◽  
pp. 418-419 ◽  
Author(s):  
I M Thomas ◽  
R Sayee ◽  
L Shavanthi ◽  
H Sridevi
Keyword(s):  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Trisomy 18 ◽  
Syndrome Patient

Abnormal leukocyte kinetics: An explanation for the enzyme abnormalities observed in trisomy-21 (Down's syndrome)

1966 ◽  
Vol 69 (5) ◽  
pp. 952-953 ◽  
Author(s):  
Spencer O. Raab ◽  
W.J. Mellman ◽  
F.A. Oski ◽  
D. Baker
Keyword(s):  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome

Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism

1994 ◽  
Vol 255 (4) ◽  
pp. 213-216 ◽  
Author(s):  
L. -H. Tseng ◽  
S. -M. Chuang ◽  
T. -Y. Lee ◽  
Tsang-Ming Ko
Keyword(s):  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome
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