scholarly journals Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency

2011 ◽  
Vol 14 (2) ◽  
Author(s):  
T Milenkovic ◽  
M Guc-Scekic ◽  
D Zdravkovic ◽  
V Topic ◽  
T Liehr ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Y Chromosome ◽  
Molecular Analysis ◽  
Gonadal Dysgenesis ◽  
Hormone Deficiency ◽  
Mixed Gonadal Dysgenesis

Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Ritesh K. Agrawala ◽  
Arun K. Choudhury ◽  
Binoy K. Mohanty ◽  
Anoj K. Baliarsinha
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Gonadal Dysgenesis ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Hormone Deficiency ◽  
Clinical Report ◽  
Perrault Syndrome

AbstractPerrault syndrome is a rare genetically heterogeneous autosomal recessive group of disorders described in 1951 by Perrault as gonadal dysgenesis with deafness. Here we present a rare case of sporadic Perrault syndrome with short stature and growth hormone deficiency (GHD). Although there was a report on partial GHD in Perrault, our case is a first of its kind with documented GHD (Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. The Perrault syndrome: clinical report and review. Am J Med Genet 1988;31:623–9). We report this case because of the rarity of keeping this condition as a differential diagnosis while evaluating for short stature with amenorrhea.

Genetic and molecular analysis of familial isolated growth hormone deficiency

1993 ◽  
Vol 92 (3) ◽  
Author(s):  
Rosal�a Ruiz-Pacheco ◽  
Pierre Chatelain ◽  
PierreC. Sizonenko ◽  
Michel Bost ◽  
Patrick Garandau ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Molecular Analysis ◽  
Hormone Deficiency ◽  
Isolated Growth Hormone Deficiency

Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency

1991 ◽  
Vol 119 (3) ◽  
pp. 392-397 ◽  
Author(s):  
Mary Ellen Conley ◽  
A. Wesley Burks ◽  
Henry G. Herrod ◽  
Jennifer M. Puck
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Molecular Analysis ◽  
Hormone Deficiency
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