scholarly journals 45,X/47,XXX Mosaicism and Short Stature

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Erica Everest ◽  
Laurie A. Tsilianidis ◽  
Anzar Haider ◽  
Douglas G. Rogers ◽  
Nouhad Raissouni ◽  
...  

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.

2013 ◽  
Vol 33 (1) ◽  
pp. 74-76
Author(s):  
S Basnet ◽  
A Eleena ◽  
AK Sharma

Many children are frequently brought to the paediatric clinic for evaluation of short stature. Evaluation for these children does not go beyond x-ray for bone age estimation and growth hormone analysis. Most of them are considered having constitutional or genetic cause for their short stature. However, shuttle dysmorphic features could be missed in many of them. Hence, many children might be having chromosomal anomaly as an underlying cause. We report a case of 40 months who had been evaluated several times in the past for pneumonia, otitis media and short stature is finally diagnosed to have Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i1.8174 J Nepal Paediatr Soc. 2013;33(1):74-76


Author(s):  
Anna Krawczyk

Turner syndrome (TS) is a chromosomal abnormality that affects exclusively girls and always results in a short stature . This article is based on an ethnographic research whose main objective was to look into the narratives and daily practices of Polish girls diagnosed with TS . The article describes strategies adopted towards the bodily manifes- tations of TS in everyday life of Polish teenagers diagnosed with this condition . In this paper, I explore the meanings and practices around normalization of Turner Syndrome which are being negotiated in the process of socialization of children with TS .    


Author(s):  
Gerhard Binder ◽  
Laura Frank ◽  
Julian Ziegler ◽  
Gunnar Blumenstock ◽  
Roland Schweizer

AbstractBackground:Knowledge concerning energy metabolism in Turner syndrome (TS) is lacking. We compared the resting energy expenditure per fat-free mass (REE/FFM) in TS with other girls with short stature treated with growth hormone (GH) and age-related controls.Methods:We measured prospectively REE by spirometry under fasting conditions in the morning in 85 short prepubertal girls at the start of GH treatment. Diagnoses were TS (n=20), GH deficiency (GHD) (n=38) and small for gestational age (SGA) short stature (n=27). Additionally, 20 age-related controls were studied. Mean ages were 8.3 (TS), 7.1 (GHD), 6.9 (SGA) and 8.5 years (controls). Mean heights were −2.90 (TS), −3.32 (GHD), −3.69 (SGA) and −0.03 standard deviation scores (SDS) (controls). FFM was measured by bioelectrical impedance analysis (BIA).Results:At the start of GH girls with TS showed insignificantly higher REE per FFM (REE/FFM) (mean±SD; 65±9 kcal/kg×day) than did the other female patients (62±9 kcal/kg×day) (p>0.23). The healthy controls had significantly lower REE/FFM (35±4 kcal/kg×day) (p<0.001). Follow-up examination of the patients after 6 or 12 months revealed decreasing REE/FFM in TS (62±9 kcal/kg×day) resulting in comparable REE/FFM in all three patient groups.Conclusions:At baseline short girls with TS had insignificantly higher REE/FFM than short children with SGA or GHD, but in follow-up this difference was not detectable any more. Future studies are necessary to understand this observation.


1980 ◽  
Vol 96 (1) ◽  
pp. 176-177 ◽  
Author(s):  
Nikolaus Stahnke ◽  
Rolf P. Willig

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